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</ul> </li> </ul> </li> <li id="toc-Clinical_significance" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Clinical_significance"> <div class="vector-toc-text"> <span class="vector-toc-numb">4</span> <span>Clinical significance</span> </div> </a> <button aria-controls="toc-Clinical_significance-sublist" class="cdx-button cdx-button--weight-quiet cdx-button--icon-only vector-toc-toggle"> <span class="vector-icon mw-ui-icon-wikimedia-expand"></span> <span>Toggle Clinical significance subsection</span> </button> <ul id="toc-Clinical_significance-sublist" class="vector-toc-list"> <li id="toc-Mutations" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Mutations"> <div class="vector-toc-text"> <span class="vector-toc-numb">4.1</span> <span>Mutations</span> </div> </a> <ul id="toc-Mutations-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Marfan_syndrome" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Marfan_syndrome"> <div class="vector-toc-text"> <span class="vector-toc-numb">4.2</span> <span>Marfan syndrome</span> </div> </a> <ul id="toc-Marfan_syndrome-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Role_of_TGF-β" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Role_of_TGF-β"> <div class="vector-toc-text"> <span class="vector-toc-numb">4.3</span> <span>Role of TGF-β</span> </div> </a> <ul id="toc-Role_of_TGF-β-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Losartan" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Losartan"> <div class="vector-toc-text"> <span class="vector-toc-numb">4.4</span> <span>Losartan</span> </div> </a> <ul id="toc-Losartan-sublist" class="vector-toc-list"> </ul> </li> </ul> </li> <li id="toc-See_also" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" 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href="https://bs.wikipedia.org/wiki/Fibrilin-1" title="Fibrilin-1 – Bosnian" lang="bs" hreflang="bs" data-title="Fibrilin-1" data-language-autonym="Bosanski" data-language-local-name="Bosnian" class="interlanguage-link-target"><span>Bosanski</span></a></li><li class="interlanguage-link interwiki-cy mw-list-item"><a href="https://cy.wikipedia.org/wiki/FBN1" title="FBN1 – Welsh" lang="cy" hreflang="cy" data-title="FBN1" data-language-autonym="Cymraeg" data-language-local-name="Welsh" class="interlanguage-link-target"><span>Cymraeg</span></a></li><li class="interlanguage-link interwiki-es mw-list-item"><a href="https://es.wikipedia.org/wiki/Fibrilina_1" title="Fibrilina 1 – Spanish" lang="es" hreflang="es" data-title="Fibrilina 1" data-language-autonym="Español" data-language-local-name="Spanish" class="interlanguage-link-target"><span>Español</span></a></li><li class="interlanguage-link interwiki-fa mw-list-item"><a href="https://fa.wikipedia.org/wiki/%D9%81%DB%8C%D8%A8%D8%B1%DB%8C%D9%84%DB%8C%D9%86_%DB%B1" title="فیبریلین ۱ – Persian" lang="fa" hreflang="fa" data-title="فیبریلین ۱" data-language-autonym="فارسی" data-language-local-name="Persian" class="interlanguage-link-target"><span>فارسی</span></a></li><li class="interlanguage-link interwiki-fr mw-list-item"><a href="https://fr.wikipedia.org/wiki/Fibrilline_1" title="Fibrilline 1 – French" lang="fr" hreflang="fr" data-title="Fibrilline 1" data-language-autonym="Français" data-language-local-name="French" class="interlanguage-link-target"><span>Français</span></a></li><li class="interlanguage-link interwiki-gl mw-list-item"><a href="https://gl.wikipedia.org/wiki/Fibrilina-1" title="Fibrilina-1 – Galician" lang="gl" hreflang="gl" data-title="Fibrilina-1" data-language-autonym="Galego" data-language-local-name="Galician" class="interlanguage-link-target"><span>Galego</span></a></li><li class="interlanguage-link interwiki-ko mw-list-item"><a href="https://ko.wikipedia.org/wiki/%ED%94%BC%EB%B8%8C%EB%A6%B4%EB%A6%B0-1" title="피브릴린-1 – Korean" lang="ko" hreflang="ko" data-title="피브릴린-1" data-language-autonym="한국어" data-language-local-name="Korean" class="interlanguage-link-target"><span>한국어</span></a></li><li class="interlanguage-link interwiki-id mw-list-item"><a href="https://id.wikipedia.org/wiki/FBN1" title="FBN1 – Indonesian" lang="id" hreflang="id" data-title="FBN1" data-language-autonym="Bahasa Indonesia" data-language-local-name="Indonesian" class="interlanguage-link-target"><span>Bahasa Indonesia</span></a></li><li class="interlanguage-link interwiki-arz mw-list-item"><a href="https://arz.wikipedia.org/wiki/%D8%A7%D9%81_%D8%A8%D9%89_%D8%A7%D9%86_1" title="اف بى ان 1 – Egyptian Arabic" lang="arz" hreflang="arz" data-title="اف بى ان 1" data-language-autonym="مصرى" data-language-local-name="Egyptian Arabic" class="interlanguage-link-target"><span>مصرى</span></a></li><li class="interlanguage-link interwiki-ja 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<div class="vector-body-before-content"> <div class="mw-indicators"> <div id="mw-indicator-Journal_Icon.svg" class="mw-indicator"><div class="mw-parser-output"><span typeof="mw:File"><a href="https://doi.org/10.1016/J.GENE.2016.07.033" title="This article was updated by an external expert under a dual publication model. The corresponding peer-reviewed article was published in the journal Gene. Click to view." rel="nofollow"><img alt="This article was updated by an external expert under a dual publication model. The corresponding peer-reviewed article was published in the journal Gene. Click to view." src="//upload.wikimedia.org/wikipedia/commons/thumb/6/63/Journal_Icon.svg/20px-Journal_Icon.svg.png" decoding="async" width="20" height="18" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/6/63/Journal_Icon.svg/30px-Journal_Icon.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/6/63/Journal_Icon.svg/40px-Journal_Icon.svg.png 2x" data-file-width="525" data-file-height="479" /></a></span></div></div> </div> <div id="siteSub" class="noprint">From Wikipedia, the free encyclopedia</div> </div> <div id="contentSub"><div id="mw-content-subtitle"><span class="mw-redirectedfrom">(Redirected from <a href="/w/index.php?title=FBN1&redirect=no" class="mw-redirect" title="FBN1">FBN1</a>)</span></div></div> <div id="mw-content-text" class="mw-body-content"><div class="mw-content-ltr mw-parser-output" lang="en" dir="ltr"><div class="shortdescription nomobile noexcerpt noprint searchaux" style="display:none">Protein found in humans</div> <p class="mw-empty-elt"> </p> <table class="infobox" style="width:26.4em"><tbody><tr><th colspan="4" style="text-align:center;font-size:125%;font-weight:bold">FBN1</th></tr><tr><td colspan="4" style="text-align:center"><span typeof="mw:File"><a href="/wiki/File:Protein_FBN1_PDB_1apj.png" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/9/95/Protein_FBN1_PDB_1apj.png/250px-Protein_FBN1_PDB_1apj.png" decoding="async" width="250" height="240" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/9/95/Protein_FBN1_PDB_1apj.png/500px-Protein_FBN1_PDB_1apj.png 1.5x" data-file-width="630" data-file-height="606" /></a></span></td></tr><tr><td colspan="4" style="text-align:center;background-color:light-dark(#eee, #27292d) !important;color:inherit"><table style="padding:0;border:none;margin:0;width:100%;text-align:left"><tbody><tr><th colspan="4" style="text-align:center;background-color:light-dark(#ddd, #404244) !important;color:inherit">Available structures</th></tr><tr><th rowspan="2" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit;width:43px"><a href="/wiki/Protein_Data_Bank" title="Protein Data Bank">PDB</a></th><td colspan="2" style="background-color:light-dark(#eee, #27292d) !important;color:inherit">Ortholog search: <span class="plainlinks"><a rel="nofollow" class="external text" href="https://www.ebi.ac.uk/pdbe/searchResults.html?display=both&term=Q61554%20or%20P35555">PDBe</a> <a rel="nofollow" class="external text" href="https://www.rcsb.org/search?q=rcsb_polymer_entity_container_identifiers.reference_sequence_identifiers.database_name:UniProt%20AND%20rcsb_polymer_entity_container_identifiers.reference_sequence_identifiers.database_accession:Q61554,P35555">RCSB</a> </span></td></tr><tr><td><table class="collapsible collapsed" style="padding:0;border:none;margin:0;width:100%;text-align:left"><tbody><tr style="text-align:center"><th colspan="2" style="background-color:light-dark(#ddd, #404244) !important;color:inherit">List of PDB id codes</th></tr><tr><td colspan="2" style="background-color:light-dark(#eee, #27292d) !important;color:inherit"><p><span class="plainlinks"><a rel="nofollow" class="external text" href="https://www.rcsb.org/structure/1APJ">1APJ</a>, <a rel="nofollow" class="external text" href="https://www.rcsb.org/structure/1EMN">1EMN</a>, <a rel="nofollow" class="external text" href="https://www.rcsb.org/structure/1EMO">1EMO</a>, <a rel="nofollow" class="external text" href="https://www.rcsb.org/structure/1LMJ">1LMJ</a>, <a rel="nofollow" class="external text" href="https://www.rcsb.org/structure/1UZJ">1UZJ</a>, <a rel="nofollow" class="external text" href="https://www.rcsb.org/structure/1UZK">1UZK</a>, <a rel="nofollow" class="external text" href="https://www.rcsb.org/structure/1UZP">1UZP</a>, <a rel="nofollow" class="external text" href="https://www.rcsb.org/structure/1UZQ">1UZQ</a>, <a rel="nofollow" class="external text" href="https://www.rcsb.org/structure/2M74">2M74</a>, <a rel="nofollow" class="external text" href="https://www.rcsb.org/structure/2W86">2W86</a></span></p></td></tr></tbody></table></td></tr></tbody></table></td></tr><tr><th colspan="4" style="text-align:center;background-color:light-dark(#ddd, #404244) !important;color:inherit">Identifiers</th></tr><tr><th scope="row" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit"><span class="plainlinks"><a href="/wiki/Gene_nomenclature" title="Gene nomenclature">Aliases</a></span></th><td colspan="3" style="background:light-dark(#eee, #27292d) !important;color:inherit"><span class="plainlinks"><a rel="nofollow" class="external text" href="https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/3603">FBN1</a></span>, ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFS1, OCTD, SGS, SSKS, WMS, WMS2, MFLS, fibrillin 1</td></tr><tr><th scope="row" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit">External IDs</th><td colspan="3" style="background-color:light-dark(#eee, #27292d) !important;color:inherit"><span class="plainlinks"><a href="/wiki/Mendelian_Inheritance_in_Man" class="mw-redirect" title="Mendelian Inheritance in Man">OMIM</a>: <a rel="nofollow" class="external text" href="https://omim.org/entry/134797">134797</a>; <a href="/wiki/Mouse_Genome_Informatics" title="Mouse Genome Informatics">MGI</a>: <a rel="nofollow" class="external text" href="http://www.informatics.jax.org/marker/MGI:95489">95489</a>; <a href="/wiki/HomoloGene" title="HomoloGene">HomoloGene</a>: <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=homologene&dopt=HomoloGene&list_uids=30958">30958</a>; <a href="/wiki/GeneCards" title="GeneCards">GeneCards</a>: <a rel="nofollow" class="external text" href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=FBN1">FBN1</a>; <a href="/wiki/Orthologous_MAtrix" title="Orthologous MAtrix">OMA</a>:<a rel="nofollow" class="external text" href="https://omabrowser.org/oma/vps/ENSG00000166147">FBN1 - orthologs</a></span></td></tr><tr><td colspan="4" style="text-align:center;background-color:light-dark(#eee, #27292d) !important;color:inherit"><table class="collapsible collapsed" style="padding:0;border:none;margin:0;width:100%;text-align:left"><tbody><tr><th colspan="4" style="text-align:center;background-color:light-dark(#ddd, #404244) !important;color:inherit">Gene location (<a href="/wiki/Human_genome" title="Human genome">Human</a>)</th></tr><tr><td colspan="4" style="text-align:center;background-color:light-dark(#eee, #27292d) !important;color:inherit"><span typeof="mw:File"><a href="/wiki/File:Ideogram_human_chromosome_15.svg" class="mw-file-description" title="Chromosome 15 (human)"><img alt="Chromosome 15 (human)" src="//upload.wikimedia.org/wikipedia/commons/thumb/0/07/Ideogram_human_chromosome_15.svg/330px-Ideogram_human_chromosome_15.svg.png" decoding="async" width="300" height="120" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/0/07/Ideogram_human_chromosome_15.svg/450px-Ideogram_human_chromosome_15.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/0/07/Ideogram_human_chromosome_15.svg/600px-Ideogram_human_chromosome_15.svg.png 2x" data-file-width="474" data-file-height="189" /></a></span></td></tr><tr><th scope="row" width="15%" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit"><a href="/wiki/Chromosome" title="Chromosome">Chr.</a></th><td colspan="3" width="85%" style="background-color:light-dark(#eee, #27292d) !important;color:inherit"><span class="plainlinks"><a href="/wiki/Chromosome_15_(human)" class="mw-redirect" title="Chromosome 15 (human)">Chromosome 15 (human)</a><sup id="cite_ref-refGRCh38Ensembl_1-0" class="reference"><a href="#cite_note-refGRCh38Ensembl-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup></span></td></tr><tr><td colspan="4" style="text-align:center;background-color:light-dark(#eee, #27292d) !important;color:inherit"><div align="center"><div style="position: relative; width: 300px;"><span typeof="mw:File"><a href="/wiki/File:Human_chromosome_15_ideogram.svg" class="mw-file-description" title="Chromosome 15 (human)"><img alt="Chromosome 15 (human)" src="//upload.wikimedia.org/wikipedia/commons/thumb/5/5c/Human_chromosome_15_ideogram.svg/300px-Human_chromosome_15_ideogram.svg.png" decoding="async" width="300" height="58" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/5/5c/Human_chromosome_15_ideogram.svg/450px-Human_chromosome_15_ideogram.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/5/5c/Human_chromosome_15_ideogram.svg/600px-Human_chromosome_15_ideogram.svg.png 2x" data-file-width="1125" data-file-height="216" /></a></span><div style="position: absolute; left: 134.54744974161px; top: 2px; padding: 0;"><span typeof="mw:File"><a href="/wiki/File:HSR_1996_II_3.5e.svg" class="mw-file-description" title="Genomic location for FBN1"><img alt="Genomic location for FBN1" src="//upload.wikimedia.org/wikipedia/commons/thumb/d/d8/HSR_1996_II_3.5e.svg/14px-HSR_1996_II_3.5e.svg.png" decoding="async" width="14" height="14" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/d/d8/HSR_1996_II_3.5e.svg/21px-HSR_1996_II_3.5e.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/d/d8/HSR_1996_II_3.5e.svg/28px-HSR_1996_II_3.5e.svg.png 2x" data-file-width="142" data-file-height="142" /></a></span></div><div style="position: absolute; left: 140.5px; top: 19px; padding: 0;"><span typeof="mw:File"><a href="/wiki/File:Red_rectangle_2x18.png" class="mw-file-description" title="Genomic location for FBN1"><img alt="Genomic location for FBN1" src="//upload.wikimedia.org/wikipedia/commons/6/6a/Red_rectangle_2x18.png" decoding="async" width="2" height="18" class="mw-file-element" data-file-width="2" data-file-height="18" /></a></span></div></div></div></td></tr><tr><th scope="row" rowspan="2" width="15%" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit"><a href="/wiki/Locus_(genetics)" title="Locus (genetics)">Band</a></th><td rowspan="2" width="35%" style="background-color:light-dark(#eee, #27292d) !important;color:inherit"><span class="plainlinks">15q21.1</span></td><th scope="row" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit">Start</th><td style="background-color:light-dark(#eee, #27292d) !important;color:inherit"><span class="plainlinks">48,408,313 <a href="/wiki/Base_pair" title="Base pair">bp</a><sup id="cite_ref-refGRCh38Ensembl_1-1" class="reference"><a href="#cite_note-refGRCh38Ensembl-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup></span></td></tr><tr><th scope="row" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit">End</th><td style="background-color:light-dark(#eee, #27292d) !important;color:inherit"><span class="plainlinks">48,645,721 <a href="/wiki/Base_pair" title="Base pair">bp</a><sup id="cite_ref-refGRCh38Ensembl_1-2" class="reference"><a href="#cite_note-refGRCh38Ensembl-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup></span></td></tr></tbody></table></td></tr><tr><td colspan="4" style="text-align:center;background-color:light-dark(#eee, #27292d) !important;color:inherit"><table class="collapsible collapsed" style="padding:0;border:none;margin:0;width:100%;text-align:left"><tbody><tr><th colspan="4" style="text-align:center;background-color:light-dark(#ddd, #404244) !important;color:inherit">Gene location (<a href="/wiki/Laboratory_mouse" title="Laboratory mouse">Mouse</a>)</th></tr><tr><td colspan="4" style="text-align:center;background-color:light-dark(#eee, #27292d) !important;color:inherit"><span typeof="mw:File"><a href="/wiki/File:Ideogram_house_mouse_chromosome_2.svg" class="mw-file-description" title="Chromosome 2 (mouse)"><img alt="Chromosome 2 (mouse)" src="//upload.wikimedia.org/wikipedia/commons/thumb/b/bb/Ideogram_house_mouse_chromosome_2.svg/330px-Ideogram_house_mouse_chromosome_2.svg.png" decoding="async" width="260" height="111" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/b/bb/Ideogram_house_mouse_chromosome_2.svg/390px-Ideogram_house_mouse_chromosome_2.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/b/bb/Ideogram_house_mouse_chromosome_2.svg/520px-Ideogram_house_mouse_chromosome_2.svg.png 2x" data-file-width="470" data-file-height="200" /></a></span></td></tr><tr><th scope="row" width="15%" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit"><a href="/wiki/Chromosome" title="Chromosome">Chr.</a></th><td colspan="3" width="85%" style="background-color:light-dark(#eee, #27292d) !important;color:inherit"><span class="plainlinks">Chromosome 2 (mouse)<sup id="cite_ref-refGRCm38Ensembl_2-0" class="reference"><a href="#cite_note-refGRCm38Ensembl-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup></span></td></tr><tr><td colspan="4" style="text-align:center;background-color:light-dark(#eee, #27292d) !important;color:inherit"><div align="center"><div style="position: relative; width: 300px;"><span typeof="mw:File"><a href="/wiki/File:Ideogram_of_house_mouse_chromosome_2.svg" class="mw-file-description" title="Chromosome 2 (mouse)"><img alt="Chromosome 2 (mouse)" src="//upload.wikimedia.org/wikipedia/commons/thumb/b/b4/Ideogram_of_house_mouse_chromosome_2.svg/330px-Ideogram_of_house_mouse_chromosome_2.svg.png" decoding="async" width="300" height="58" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/b/b4/Ideogram_of_house_mouse_chromosome_2.svg/500px-Ideogram_of_house_mouse_chromosome_2.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/b/b4/Ideogram_of_house_mouse_chromosome_2.svg/960px-Ideogram_of_house_mouse_chromosome_2.svg.png 2x" data-file-width="1200" data-file-height="231" /></a></span><div style="position: absolute; left: 196.88662562494px; top: 2px; padding: 0;"><span typeof="mw:File"><a href="/wiki/File:HSR_1996_II_3.5e.svg" class="mw-file-description" title="Genomic location for FBN1"><img alt="Genomic location for FBN1" src="//upload.wikimedia.org/wikipedia/commons/thumb/d/d8/HSR_1996_II_3.5e.svg/14px-HSR_1996_II_3.5e.svg.png" decoding="async" width="14" height="14" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/d/d8/HSR_1996_II_3.5e.svg/21px-HSR_1996_II_3.5e.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/d/d8/HSR_1996_II_3.5e.svg/28px-HSR_1996_II_3.5e.svg.png 2x" data-file-width="142" data-file-height="142" /></a></span></div><div style="position: absolute; left: 202.9px; top: 19px; padding: 0;"><span typeof="mw:File"><a href="/wiki/File:Red_rectangle_2x18.png" class="mw-file-description" title="Genomic location for FBN1"><img alt="Genomic location for FBN1" src="//upload.wikimedia.org/wikipedia/commons/6/6a/Red_rectangle_2x18.png" decoding="async" width="2" height="18" class="mw-file-element" data-file-width="2" data-file-height="18" /></a></span></div></div></div></td></tr><tr><th scope="row" rowspan="2" width="15%" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit"><a href="/wiki/Locus_(genetics)" title="Locus (genetics)">Band</a></th><td rowspan="2" width="35%" style="background-color:light-dark(#eee, #27292d) !important;color:inherit"><span class="plainlinks">2 F1|2 61.38 cM</span></td><th scope="row" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit">Start</th><td style="background-color:light-dark(#eee, #27292d) !important;color:inherit"><span class="plainlinks">125,142,514 <a href="/wiki/Base_pair" title="Base pair">bp</a><sup id="cite_ref-refGRCm38Ensembl_2-1" class="reference"><a href="#cite_note-refGRCm38Ensembl-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup></span></td></tr><tr><th scope="row" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit">End</th><td style="background-color:light-dark(#eee, #27292d) !important;color:inherit"><span class="plainlinks">125,349,913 <a href="/wiki/Base_pair" title="Base pair">bp</a><sup id="cite_ref-refGRCm38Ensembl_2-2" class="reference"><a href="#cite_note-refGRCm38Ensembl-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup></span></td></tr></tbody></table></td></tr><tr><td colspan="4" style="text-align:center;background-color:light-dark(#eee, #27292d) !important;color:inherit"><table class="collapsible collapsed" style="padding:0;border:none;margin:0;width:100%;text-align:left"><tbody><tr><th colspan="4" style="text-align:center;background-color:light-dark(#ddd, #404244) !important;color:inherit"><a href="/wiki/Gene_expression" title="Gene expression">RNA expression</a> pattern</th></tr><tr><th scope="row" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit"><a rel="nofollow" class="external text" href="https://www.bgee.org/">Bgee</a></th><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:left"><tbody><tr><th><b><a href="/wiki/Human_genome" title="Human genome">Human</a></b></th><th><b><a href="/wiki/Laboratory_mouse" title="Laboratory mouse">Mouse</a> (ortholog)</b></th></tr><tr><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:center"><tbody><tr><td colspan="1"><span class="plainlinks" style="margin:-3px"><a rel="nofollow" class="external text" href="https://www.bgee.org/gene/ENSG00000166147">Top expressed in</a></span></td></tr><tr><td colspan="1"><div class="plainlinks" style="margin:-12px 0px -10px 0px"><ul style="line-height:15%;margin:9px"><li style="line-height: 137%;">synovial joint</li><br /><li style="line-height: 137%;">skin of hip</li><br /><li style="line-height: 137%;">decidua</li><br /><li style="line-height: 137%;">stromal cell of endometrium</li><br /><li style="line-height: 137%;">vulva</li><br /><li style="line-height: 137%;">pericardium</li><br /><li style="line-height: 137%;">periodontal fiber</li><br /><li style="line-height: 137%;">vena cava</li><br /><li style="line-height: 137%;">parietal pleura</li><br /><li style="line-height: 137%;">saphenous vein</li></ul></div></td></tr></tbody></table></td><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:center"><tbody><tr><td colspan="1"><span class="plainlinks" style="margin:-3px"><a rel="nofollow" class="external text" href="https://www.bgee.org/gene/ENSMUSG00000027204">Top expressed in</a></span></td></tr><tr><td colspan="1"><div class="plainlinks" style="margin:-12px 0px -10px 0px"><ul style="line-height:15%;margin:9px"><li style="line-height: 137%;">external carotid artery</li><br /><li style="line-height: 137%;">ascending aorta</li><br /><li style="line-height: 137%;">umbilical cord</li><br /><li style="line-height: 137%;">semi-lunar valve</li><br /><li style="line-height: 137%;">aortic valve</li><br /><li style="line-height: 137%;">gastrula</li><br /><li style="line-height: 137%;">internal carotid artery</li><br /><li style="line-height: 137%;">ciliary body</li><br /><li style="line-height: 137%;">dermis</li><br /><li style="line-height: 137%;">efferent ductule</li></ul></div></td></tr></tbody></table></td></tr><tr><td colspan="4" style="text-align:center;background-color:light-dark(#eee, #27292d) !important;color:inherit"><span class="plainlinks"><a rel="nofollow" class="external text" href="https://www.bgee.org/gene/ENSG00000166147">More reference expression data</a></span></td></tr></tbody></table></td></tr><tr><th scope="row" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit"><a rel="nofollow" class="external text" href="http://biogps.org/">BioGPS</a></th><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:left"><tbody><tr><td colspan="4" style="text-align:center;background-color:light-dark(#eee, #27292d) !important;color:inherit"><span typeof="mw:File"><a href="/wiki/File:PBB_GE_FBN1_202765_s_at_fs.png" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/8/86/PBB_GE_FBN1_202765_s_at_fs.png/250px-PBB_GE_FBN1_202765_s_at_fs.png" decoding="async" width="250" height="181" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/8/86/PBB_GE_FBN1_202765_s_at_fs.png/500px-PBB_GE_FBN1_202765_s_at_fs.png 1.5x" data-file-width="732" data-file-height="530" /></a></span><br /><br /><span typeof="mw:File"><a href="/wiki/File:PBB_GE_FBN1_202766_s_at_fs.png" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/a/a0/PBB_GE_FBN1_202766_s_at_fs.png/250px-PBB_GE_FBN1_202766_s_at_fs.png" decoding="async" width="250" height="181" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/a/a0/PBB_GE_FBN1_202766_s_at_fs.png/375px-PBB_GE_FBN1_202766_s_at_fs.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/a/a0/PBB_GE_FBN1_202766_s_at_fs.png/500px-PBB_GE_FBN1_202766_s_at_fs.png 2x" data-file-width="732" data-file-height="530" /></a></span></td></tr><tr><td colspan="4" style="text-align:center;background-color:light-dark(#eee, #27292d) !important;color:inherit"><span class="plainlinks"><a rel="nofollow" class="external text" href="http://biogps.org/gene/2200/">More reference expression data</a></span></td></tr></tbody></table></td></tr></tbody></table></td></tr><tr><td colspan="4" style="text-align:center;background-color:light-dark(#eee, #27292d) !important;color:inherit"><table class="collapsible collapsed" style="padding:0;border:none;margin:0;width:100%;text-align:left"><tbody><tr><th colspan="4" style="text-align:center;background-color:light-dark(#ddd, #404244) !important;color:inherit"><a href="/wiki/Gene_ontology" class="mw-redirect" title="Gene ontology">Gene ontology</a></th></tr><tr><td style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit;font-weight:bold">Molecular function</td><td style="background-color:light-dark(#eee, #27292d) !important;color:inherit"><div class="plainlinks"> <ul><li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0005509">calcium ion binding</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0030023">extracellular matrix constituent conferring elasticity</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0044877">protein-containing complex binding</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0005201">extracellular matrix structural constituent</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0005178">integrin binding</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0005515">protein binding</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0005179">hormone activity</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0008201">heparin binding</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0042802">identical protein binding</a></li></ul> </div></td></tr><tr><td style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit;font-weight:bold">Cellular component</td><td style="background-color:light-dark(#eee, #27292d) !important;color:inherit"><div class="plainlinks"> <ul><li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0031012">extracellular matrix</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0005604">basement membrane</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0070062">extracellular exosome</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0005622">intracellular anatomical structure</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0005576">extracellular region</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0001527">microfibril</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0005615">extracellular space</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0005788">endoplasmic reticulum lumen</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0062023">collagen-containing extracellular matrix</a></li></ul> </div></td></tr><tr><td style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit;font-weight:bold">Biological process</td><td style="background-color:light-dark(#eee, #27292d) !important;color:inherit"><div class="plainlinks"> <ul><li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0071560">cellular response to transforming growth factor beta stimulus</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0001501">skeletal system development</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0001822">kidney development</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0048048">embryonic eye morphogenesis</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0048050">post-embryonic eye morphogenesis</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:1990314">cellular response to insulin-like growth factor stimulus</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0022617">extracellular matrix disassembly</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0030198">extracellular matrix organization</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0007507">heart development</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0043010">camera-type eye development</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0001656">metanephros development</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0090287">regulation of cellular response to growth factor stimulus</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0010737">protein kinase A signaling</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0034199">activation of protein kinase A activity</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0006006">glucose metabolic process</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0033627">cell adhesion mediated by integrin</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0042593">glucose homeostasis</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0035582">sequestering of BMP in extracellular matrix</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0035583">sequestering of TGFbeta in extracellular matrix</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0045671">negative regulation of osteoclast differentiation</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:2001205">negative regulation of osteoclast development</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0043687">post-translational protein modification</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0010469">regulation of signaling receptor activity</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0007165">signal transduction</a></li></ul> </div></td></tr><tr><td colspan="4" style="background-color:light-dark(#eee, #27292d) !important;color:inherit;text-align:center">Sources:<a rel="nofollow" class="external text" href="http://amigo.geneontology.org/">Amigo</a> / <a rel="nofollow" class="external text" href="https://www.ebi.ac.uk/QuickGO/">QuickGO</a></td></tr></tbody></table></td></tr><tr><td colspan="4" style="text-align:center;background-color:light-dark(#eee, #27292d) !important;color:inherit"><table class="collapsible" style="padding:0;border:none;margin:0;width:100%;text-align:left"><tbody><tr><th colspan="4" style="text-align:center;background-color:light-dark(#ddd, #404244) !important;color:inherit"><a href="/wiki/Orthologs" class="mw-redirect" title="Orthologs">Orthologs</a></th></tr><tr><th scope="row" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit">Species</th><td><b>Human</b></td><td><b>Mouse</b></td></tr><tr><th scope="row" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit"><a href="/wiki/Entrez" title="Entrez">Entrez</a></th><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:right"><tbody><tr><th colspan="1"><span class="plainlinks"></span></th></tr><tr><td colspan="1"><p class="plainlinks"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene&cmd=retrieve&dopt=default&list_uids=2200&rn=1">2200</a></p></td></tr></tbody></table></td><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:right"><tbody><tr><th colspan="1"><span class="plainlinks"></span></th></tr><tr><td colspan="1"><p class="plainlinks"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene&cmd=retrieve&dopt=default&list_uids=14118&rn=1">14118</a></p></td></tr></tbody></table></td></tr><tr><th scope="row" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit"><a href="/wiki/Ensembl" class="mw-redirect" title="Ensembl">Ensembl</a></th><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:right"><tbody><tr><th colspan="1"><span class="plainlinks"></span></th></tr><tr><td colspan="1"><p class="plainlinks"><a rel="nofollow" class="external text" href="http://www.ensembl.org/Homo_sapiens/geneview?gene=ENSG00000166147;db=core">ENSG00000166147</a></p></td></tr></tbody></table></td><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:right"><tbody><tr><th colspan="1"><span class="plainlinks"></span></th></tr><tr><td colspan="1"><p class="plainlinks"><a rel="nofollow" class="external text" href="http://www.ensembl.org/Mus_musculus/geneview?gene=ENSMUSG00000027204;db=core">ENSMUSG00000027204</a></p></td></tr></tbody></table></td></tr><tr><th scope="row" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit"><a href="/wiki/UniProt" title="UniProt">UniProt</a></th><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:right"><tbody><tr><th colspan="1"><span class="plainlinks"></span></th></tr><tr><td colspan="1"><p class="plainlinks"><a rel="nofollow" class="external text" href="https://www.uniprot.org/uniprot/P35555">P35555</a></p></td></tr></tbody></table></td><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:right"><tbody><tr><th colspan="1"><span class="plainlinks"></span></th></tr><tr><td colspan="1"><p class="plainlinks"><a rel="nofollow" class="external text" href="https://www.uniprot.org/uniprot/Q61554">Q61554</a></p></td></tr></tbody></table></td></tr><tr><th scope="row" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit">RefSeq (mRNA)</th><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:right"><tbody><tr><th colspan="1" class="plainlinks"></th></tr><tr><td colspan="1"><p><span class="plainlinks"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000138">NM_000138</a></span></p></td></tr></tbody></table></td><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:right"><tbody><tr><th colspan="1" class="plainlinks"></th></tr><tr><td colspan="1"><p><span class="plainlinks"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_007993">NM_007993</a></span></p></td></tr></tbody></table></td></tr><tr><th scope="row" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit">RefSeq (protein)</th><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:right"><tbody><tr><th colspan="1" class="plainlinks"></th></tr><tr><td colspan="1"><p><span class="plainlinks"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NP_000129">NP_000129</a></span></p></td></tr></tbody></table></td><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:right"><tbody><tr><th colspan="1" class="plainlinks"></th></tr><tr><td colspan="1"><p><span class="plainlinks"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NP_032019">NP_032019</a></span></p></td></tr></tbody></table></td></tr><tr><th scope="row" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit">Location (UCSC)</th><td><span class="plainlinks"><a rel="nofollow" class="external text" href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&position=chr15:48408313-48645721">Chr 15: 48.41 – 48.65 Mb</a></span></td><td><span class="plainlinks"><a rel="nofollow" class="external text" href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Mouse&db=mm0&position=chr2:125142514-125349913">Chr 2: 125.14 – 125.35 Mb</a></span></td></tr><tr><th scope="row" style="background-color:light-dark(#c3fdb8, #003500) !important;color:inherit"><a href="/wiki/PubMed" title="PubMed">PubMed</a> search</th><td><span class="plainlinks"><sup id="cite_ref-3" class="reference"><a href="#cite_note-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup></span></td><td><span class="plainlinks"><sup id="cite_ref-4" class="reference"><a href="#cite_note-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup></span></td></tr></tbody></table></td></tr><tr><td colspan="4" style="text-align:center;background-color:light-dark(#eee, #27292d) !important;color:inherit"><a href="/wiki/Wikidata" title="Wikidata">Wikidata</a></td></tr><tr><td colspan="4" style="text-align:center;background-color:light-dark(#eee, #27292d) !important;color:inherit"><table style="padding:0;border:none;margin:0;width:100%;text-align:center"><tbody><tr><td colspan="2" style="background-color:light-dark(#eee, #27292d) !important;color:inherit;text-align:center"><a href="https://www.wikidata.org/wiki/Q17927651" class="extiw" title="d:Q17927651">View/Edit Human</a></td><td colspan="2" style="background-color:light-dark(#eee, #27292d) !important;color:inherit;text-align:center"><a href="https://www.wikidata.org/wiki/Q18250532" class="extiw" title="d:Q18250532">View/Edit Mouse</a></td></tr></tbody></table></td></tr></tbody></table> <p><b>Fibrillin-1</b> is a <a href="/wiki/Protein" title="Protein">protein</a> that in humans is encoded by the <i>FBN1</i> <a href="/wiki/Gene" title="Gene">gene</a>, located on <a href="/wiki/Chromosome_15" title="Chromosome 15">chromosome 15</a>.<sup id="cite_ref-Biery_1999_5-0" class="reference"><a href="#cite_note-Biery_1999-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Faivre_2003_6-0" class="reference"><a href="#cite_note-Faivre_2003-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup> It is a large, <a href="/wiki/Extracellular_matrix" title="Extracellular matrix">extracellular matrix</a> <a href="/wiki/Glycoprotein" title="Glycoprotein">glycoprotein</a> that serves as a structural component of 10–12 nm calcium-binding <a href="/wiki/Microfibril" title="Microfibril">microfibrils</a>. These microfibrils provide force bearing structural support in elastic and nonelastic connective tissue throughout the body. Mutations altering the protein can result in a variety of phenotypic effects differing widely in their severity, including fetal death, developmental problems, <a href="/wiki/Marfan_syndrome" title="Marfan syndrome">Marfan syndrome</a> or in some cases <a href="/wiki/Weill-Marchesani_syndrome" class="mw-redirect" title="Weill-Marchesani syndrome">Weill-Marchesani syndrome</a>. </p> <meta property="mw:PageProp/toc" /> <div class="mw-heading mw-heading2"><h2 id="Gene">Gene</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fibrillin-1&action=edit&section=1" title="Edit section: Gene"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p><i>FBN1</i> is a 230-kb gene with 65 coding <a href="/wiki/Exons" class="mw-redirect" title="Exons">exons</a> that encode a 2,871-amino-acid long <a href="/wiki/Proprotein" class="mw-redirect" title="Proprotein">proprotein</a> called profibrillin which is proteolytically cleaved near its C-terminus by the enzyme <a href="/wiki/Furin_convertase" class="mw-redirect" title="Furin convertase">furin convertase</a> to give fibrillin-1, a member of the <a href="/wiki/Fibrillin" title="Fibrillin">fibrillin</a> family, and the 140-amino-acid long protein hormone <a href="/wiki/Asprosin" title="Asprosin">asprosin</a>.<sup id="cite_ref-7" class="reference"><a href="#cite_note-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-8" class="reference"><a href="#cite_note-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Structure">Structure</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fibrillin-1&action=edit&section=2" title="Edit section: Structure"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The sequence of fibrillin-1 includes 47 six-cysteine <a href="/wiki/EGF-like_domain" title="EGF-like domain">EGF-like domains</a>, 7 eight-cysteine domains homologous with <a href="/wiki/Latent_TGF-beta_binding_protein" title="Latent TGF-beta binding protein">latent TGF-beta binding protein</a>, and a <a href="/wiki/Proline" title="Proline">proline</a>-rich region.<sup id="cite_ref-Ramachandra_2015_9-0" class="reference"><a href="#cite_note-Ramachandra_2015-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Function">Function</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fibrillin-1&action=edit&section=3" title="Edit section: Function"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <div class="mw-heading mw-heading3"><h3 id="Fetal_cardiovascular_development">Fetal cardiovascular development</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fibrillin-1&action=edit&section=4" title="Edit section: Fetal cardiovascular development"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The FBN-1 gene is involved in a variety of embryonic developmental programs. The microfibrils that are made from fibrillin-1 contribute to both elastic and non-elastic structures. The formation of the elastic fibers in the heart valves and the aorta require the involvement of both FBN-1 and FBN-2.<sup id="cite_ref-10" class="reference"><a href="#cite_note-10"><span class="cite-bracket">[</span>10<span class="cite-bracket">]</span></a></sup> It has been shown that both FBN-1 and FBN-2, along with the other components of elastic fibers, are expressed in the embryonic semilunar valves as early as 4 weeks of gestation.<sup id="cite_ref-Votteler_2013_11-0" class="reference"><a href="#cite_note-Votteler_2013-11"><span class="cite-bracket">[</span>11<span class="cite-bracket">]</span></a></sup> These molecules interact to form the elastic fibers in the ventricularis layer of the semilunar valves. Fibrillin-1 and fibrillin-2 are also crucial for the development of elastic fibers in the aorta. While expression of fibrillin-2 decreases significantly after fetal development, the expression of fibrillin-1 continues into adulthood. This supports the idea that fibrilin-2 dictates the development of early elastic fibers, while fibrillin-1 provides the structural support of mature elastic fibers.<sup id="cite_ref-Votteler_2013_11-1" class="reference"><a href="#cite_note-Votteler_2013-11"><span class="cite-bracket">[</span>11<span class="cite-bracket">]</span></a></sup> </p><p>When mutations in the FBN-1 or FBN-2 genes occur, significant deformations can result from the damage to the extracellular matrix. Marfan syndrome is a congenital disease that arises from a mutation in the FBN-1 gene. This leads to the malformation and subsequent weakening of the microfibrils in the patient’s body, including the structures of the cardiovascular system. The weakened elastic fibers will result in an impaired durability and distensibility in the heart valves and aorta. This provides the explanation for the aortic aneurysms and prolapsed valves that are commonly associated with Marfan syndrome.<sup id="cite_ref-12" class="reference"><a href="#cite_note-12"><span class="cite-bracket">[</span>12<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Clinical_significance">Clinical significance</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fibrillin-1&action=edit&section=5" title="Edit section: Clinical significance"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Mutations in the <i>FBN1</i> gene are associated with <a href="/wiki/Marfan_syndrome" title="Marfan syndrome">Marfan syndrome</a> and its variant <a href="/wiki/Marfanoid%E2%80%93progeroid%E2%80%93lipodystrophy_syndrome" title="Marfanoid–progeroid–lipodystrophy syndrome">Marfanoid–progeroid–lipodystrophy syndrome</a>, autosomal dominant <a href="/wiki/Weill%E2%80%93Marchesani_syndrome" title="Weill–Marchesani syndrome">Weill–Marchesani syndrome</a>, isolated <a href="/wiki/Ectopia_lentis" title="Ectopia lentis">ectopia lentis</a>, <a href="/wiki/MASS_phenotype" class="mw-redirect" title="MASS phenotype">MASS phenotype</a>, and <a href="/wiki/Shprintzen%E2%80%93Goldberg_syndrome" title="Shprintzen–Goldberg syndrome">Shprintzen–Goldberg syndrome</a>.<sup id="cite_ref-13" class="reference"><a href="#cite_note-13"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-14" class="reference"><a href="#cite_note-14"><span class="cite-bracket">[</span>14<span class="cite-bracket">]</span></a></sup> </p><p>Mutations in FBN1 and <a href="/wiki/FBN2" class="mw-redirect" title="FBN2">FBN2</a> are associated with <a href="/wiki/Idiopathic_scoliosis" class="mw-redirect" title="Idiopathic scoliosis">adolescent idiopathic scoliosis</a>.<sup id="cite_ref-15" class="reference"><a href="#cite_note-15"><span class="cite-bracket">[</span>15<span class="cite-bracket">]</span></a></sup> </p><p>Clinical symptoms of MFS such as aortic root dilation, pulmonary emphysema, atrioventricular valve changes and skeletal muscle myopathy are induced by altered TGF-β activation and signalling.<sup id="cite_ref-Matt_2009_16-0" class="reference"><a href="#cite_note-Matt_2009-16"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup> Aortic specific symptoms are closely related to excessive TGF-β signalling in the aortic root wall.<sup id="cite_ref-Matt_2009_16-1" class="reference"><a href="#cite_note-Matt_2009-16"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup> TGF-β antagonism via systemic administration of TGF-β neutralising antibody (NAb) averted the development of aortic pathologies associated with MDS, more specifically changes in the aortic wall and progressive aortic dilation.<sup id="cite_ref-Matt_2009_16-2" class="reference"><a href="#cite_note-Matt_2009-16"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup> Antagonism of TGF-β also further reduced MFS symptoms where it helped muscle regeneration, architecture and strength, pulmonary alveolar septation and mitral valve morphology.<sup id="cite_ref-Matt_2009_16-3" class="reference"><a href="#cite_note-Matt_2009-16"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Mutations">Mutations</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fibrillin-1&action=edit&section=6" title="Edit section: Mutations"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p><i>FBN1</i> is a gene approximately 200kb and is made up of a large coding sequence divided into 65 exons located on chromosome 15. This gene encodes for Fibrillin-1 protein.<sup id="cite_ref-Hayward_1997_17-0" class="reference"><a href="#cite_note-Hayward_1997-17"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup> Fibrillin-1 is a large cysteine rich-glycoprotein approximately 350 kDa mainly composed of tandemly repeating domains of epidermal growth factor (EGF)-like modules. These domains are homologous to calcium binding epidermal growth factor module (cbEGF-like motifs) and of distinct 8-cysteine modules to make up elastic and non-elastic tissue.<sup id="cite_ref-Von_Kodolitsch_2007_18-0" class="reference"><a href="#cite_note-Von_Kodolitsch_2007-18"><span class="cite-bracket">[</span>18<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Bergman_2014_19-0" class="reference"><a href="#cite_note-Bergman_2014-19"><span class="cite-bracket">[</span>19<span class="cite-bracket">]</span></a></sup> These elastic and non-elastic tissues are microfibrillar bundles, heteropolymers of both Fibrillin-1 and fibrillin-2.<sup id="cite_ref-Keene_1997_20-0" class="reference"><a href="#cite_note-Keene_1997-20"><span class="cite-bracket">[</span>20<span class="cite-bracket">]</span></a></sup> <a href="/wiki/Elastogenesis" class="mw-redirect" title="Elastogenesis">Elastogenesis</a> is a biological process where microfibrils and elastic fibres are self-assembled via organised deposition by several macromolecules.<sup id="cite_ref-Martinez-Quintana_2014_21-0" class="reference"><a href="#cite_note-Martinez-Quintana_2014-21"><span class="cite-bracket">[</span>21<span class="cite-bracket">]</span></a></sup> Polymerised fibrillins can be characterised by their ‘beads-on-a-string’ microfibril structure; giving rise to a microfibril lattice via lateral communication of the individual polymers and structural components.<sup id="cite_ref-Martinez-Quintana_2014_21-1" class="reference"><a href="#cite_note-Martinez-Quintana_2014-21"><span class="cite-bracket">[</span>21<span class="cite-bracket">]</span></a></sup> </p><p>Fibrillin-1 mutations are the main mutated protein causing MFS. This mutation usually interferes with the assembly of microfibrils resulting in a dominant-negative mechanism <sup id="cite_ref-Von_Kodolitsch_2007_18-1" class="reference"><a href="#cite_note-Von_Kodolitsch_2007-18"><span class="cite-bracket">[</span>18<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Charbonneau_2010_22-0" class="reference"><a href="#cite_note-Charbonneau_2010-22"><span class="cite-bracket">[</span>22<span class="cite-bracket">]</span></a></sup> </p><p>Mutations can include: </p> <ol><li>Missense mutations caused by single base substitutions such as cysteine or those associated with calcium binding in Fibrillin-1.<sup id="cite_ref-Hayward_1997_17-1" class="reference"><a href="#cite_note-Hayward_1997-17"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup></li> <li>Premature terminations caused by nonsense mutations or frameshifts.<sup id="cite_ref-Hayward_1997_17-2" class="reference"><a href="#cite_note-Hayward_1997-17"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup></li> <li>Mutations within the exonic splice site allowing for insertions or deletions due to creations of cryptic splice sites.<sup id="cite_ref-Hayward_1997_17-3" class="reference"><a href="#cite_note-Hayward_1997-17"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup></li> <li>Intronic splice site base changes leading to alternative splicing and in-frame exon skipping or deletion.<sup id="cite_ref-Hayward_1997_17-4" class="reference"><a href="#cite_note-Hayward_1997-17"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup></li></ol> <p>The combination of the four types of mutations results in Fibrillin-1 being expressed incorrectly. There is no correlation between phenotype and genotype at a molecular level <sup id="cite_ref-Hayward_1997_17-5" class="reference"><a href="#cite_note-Hayward_1997-17"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup> </p><p>The mutations of the FBN-1 gene at six chromosomal loci, TAAD1 at 5q13-14, FAA1 at 11q23-24, TAAD2 at 3p24-25, TAAD3 at 15q24-26, TAAD4 at 10q23-24 and MYH11 at 16p12-13 are known to be triggers of MFS.<sup id="cite_ref-Barett_2012_23-0" class="reference"><a href="#cite_note-Barett_2012-23"><span class="cite-bracket">[</span>23<span class="cite-bracket">]</span></a></sup> These loci tend to have genes that are involved in vascular function.<sup id="cite_ref-Barett_2012_23-1" class="reference"><a href="#cite_note-Barett_2012-23"><span class="cite-bracket">[</span>23<span class="cite-bracket">]</span></a></sup> The MYH11 gene is responsible for the smooth muscle myosin heavy chain and ACTA2 at TAAD4 loci encodes for smooth muscle alpha-actin.<sup id="cite_ref-Barett_2012_23-2" class="reference"><a href="#cite_note-Barett_2012-23"><span class="cite-bracket">[</span>23<span class="cite-bracket">]</span></a></sup> </p><p>A nonsynonymous amino acid change affecting conserved cysteine of the CaB-EGF-like domain encoded by exon 13 of the FBN1 gene can cause MFS to develop.<sup id="cite_ref-Martinez-Quintana_2014_21-2" class="reference"><a href="#cite_note-Martinez-Quintana_2014-21"><span class="cite-bracket">[</span>21<span class="cite-bracket">]</span></a></sup> Higher frequency and severity of MFS occurs when there are incorrect substitutions at the C1–C2 or C3–C4 disulphide bonds, therefore, correct cysteine localisation and disulphide bonding at these loci are critical to structural integrity.<sup id="cite_ref-Martinez-Quintana_2014_21-3" class="reference"><a href="#cite_note-Martinez-Quintana_2014-21"><span class="cite-bracket">[</span>21<span class="cite-bracket">]</span></a></sup> Mutations in the FBN1 gene resulting in incorrect bonding at the C5–C6 disulphide bond generally results in MFS of lesser severity.<sup id="cite_ref-Martinez-Quintana_2014_21-4" class="reference"><a href="#cite_note-Martinez-Quintana_2014-21"><span class="cite-bracket">[</span>21<span class="cite-bracket">]</span></a></sup> Concentrated mutations of the CaB-EGF domain along the FBN1 polypeptide affects MFS severity phenotype.<sup id="cite_ref-Martinez-Quintana_2014_21-5" class="reference"><a href="#cite_note-Martinez-Quintana_2014-21"><span class="cite-bracket">[</span>21<span class="cite-bracket">]</span></a></sup> Localised substitution mutations of the cysteine substitution at C538P on exon 13, C570R on exon 14 or C587Y on exon 15 result in MFS symptoms related to the eyes, specifically ectopia lentis.<sup id="cite_ref-Martinez-Quintana_2014_21-6" class="reference"><a href="#cite_note-Martinez-Quintana_2014-21"><span class="cite-bracket">[</span>21<span class="cite-bracket">]</span></a></sup> Microfibrils themselves can support the hemodynamic load in the circulatory systems of invertebrates and lesser vertebrates.<sup id="cite_ref-Martinez-Quintana_2014_21-7" class="reference"><a href="#cite_note-Martinez-Quintana_2014-21"><span class="cite-bracket">[</span>21<span class="cite-bracket">]</span></a></sup> Elastin and the development of the ECM system integrated with surrounding VSMC are needed for higher vertebrates to function correctly.<sup id="cite_ref-Martinez-Quintana_2014_21-8" class="reference"><a href="#cite_note-Martinez-Quintana_2014-21"><span class="cite-bracket">[</span>21<span class="cite-bracket">]</span></a></sup> Fibrillin-1 is not essential in the stabilisation of the elastic unit but instead in the assembly of the microfibril. Up-regulation of activin A works in conjunction with Fibrillin-1 and TGF-β signalling molecules to produce a fibroproliferative response.<sup id="cite_ref-Martinez-Quintana_2014_21-9" class="reference"><a href="#cite_note-Martinez-Quintana_2014-21"><span class="cite-bracket">[</span>21<span class="cite-bracket">]</span></a></sup> CYR61 induction also functions to support cell adhesion and regulate matrix remodelling and is fundamental in the formation of large vessels and their integrity.<sup id="cite_ref-Martinez-Quintana_2014_21-10" class="reference"><a href="#cite_note-Martinez-Quintana_2014-21"><span class="cite-bracket">[</span>21<span class="cite-bracket">]</span></a></sup> </p><p>Common variants in FBN1 can have effects on the gene and human phenotypes as well. For example, a common variant in Peruvian populations (E1297G) can cause a 2.2 cm reduction in height.<sup id="cite_ref-24" class="reference"><a href="#cite_note-24"><span class="cite-bracket">[</span>24<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Marfan_syndrome">Marfan syndrome</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fibrillin-1&action=edit&section=7" title="Edit section: Marfan syndrome"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p><a href="/wiki/Marfan_syndrome" title="Marfan syndrome">Marfan syndrome</a> (MFS) is an autosomal dominant disorder that affects the connective tissues of bodily systems such as the eyes, cardiovascular system, skeletal system, skin, pulmonary system and the dura. MFS affects approximately 1 in 5,000 individuals.<sup id="cite_ref-Summer_2005_25-0" class="reference"><a href="#cite_note-Summer_2005-25"><span class="cite-bracket">[</span>25<span class="cite-bracket">]</span></a></sup> MFS is not an easily diagnosed pathology with a scoring system called the Ghent nosology table used, rather than a single molecule test.<sup id="cite_ref-Von_Kodolitsch_2007_18-2" class="reference"><a href="#cite_note-Von_Kodolitsch_2007-18"><span class="cite-bracket">[</span>18<span class="cite-bracket">]</span></a></sup> To diagnose MFS individuals that have no previous family history, two criteria must be met. Firstly, two different major organ systems must be affected, and secondly, a third organ system must be involved.<sup id="cite_ref-Loeys_2010_26-0" class="reference"><a href="#cite_note-Loeys_2010-26"><span class="cite-bracket">[</span>26<span class="cite-bracket">]</span></a></sup> </p><p>MFS has a large hereditary component, with 80% of cases being inherited.<sup id="cite_ref-Ramachandra_2015_9-1" class="reference"><a href="#cite_note-Ramachandra_2015-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup> The remaining 20% of MFS cases occur from <i>de novo</i> mutations (new <a href="/wiki/Germline_mutations" class="mw-redirect" title="Germline mutations">germline mutations</a> not inherited from either parent) and results in the individual phenotypically displaying long and thin limbs and extremities, a curved spine usually resulting in thoracic <a href="/wiki/Scoliosis" title="Scoliosis">scoliosis</a>, <a href="/wiki/Hypermobility_(joints)" title="Hypermobility (joints)">hyperflexible joints</a>, <a href="/wiki/Pectus_excavatum" title="Pectus excavatum">pectus excavatum</a> (sunken chest), and <a href="/wiki/Retinal_detachment" title="Retinal detachment">retinal detachment</a>.<sup id="cite_ref-Summer_2005_25-1" class="reference"><a href="#cite_note-Summer_2005-25"><span class="cite-bracket">[</span>25<span class="cite-bracket">]</span></a></sup> <i>De Novo</i> mutations resulting in severe MFS have high expected mortality rates for neonates.<sup id="cite_ref-Von_Kodolitsch_2007_18-3" class="reference"><a href="#cite_note-Von_Kodolitsch_2007-18"><span class="cite-bracket">[</span>18<span class="cite-bracket">]</span></a></sup> Classical MFS symptoms usually become noticeable during puberty or later in life; rarely does it develop in the earlier stages of life.<sup id="cite_ref-Von_Kodolitsch_2007_18-4" class="reference"><a href="#cite_note-Von_Kodolitsch_2007-18"><span class="cite-bracket">[</span>18<span class="cite-bracket">]</span></a></sup> The most common skin manifestation of MFS is striae distensae where bands of skin are coloured red, purple and then white.<sup id="cite_ref-Bergman_2014_19-1" class="reference"><a href="#cite_note-Bergman_2014-19"><span class="cite-bracket">[</span>19<span class="cite-bracket">]</span></a></sup> The skin epidermis is thin and flattened, and the upper protective skin layer is decreased in thickness.<sup id="cite_ref-Bergman_2014_19-2" class="reference"><a href="#cite_note-Bergman_2014-19"><span class="cite-bracket">[</span>19<span class="cite-bracket">]</span></a></sup> This manifestation is characterised histologically by straight, thin collagen bundles arranged in a parallel to the skin and the elastic fibres.<sup id="cite_ref-Bergman_2014_19-3" class="reference"><a href="#cite_note-Bergman_2014-19"><span class="cite-bracket">[</span>19<span class="cite-bracket">]</span></a></sup> Elastic fibres are denser in the upper dermis, and beneath this zone there is a localised absence of the elastic fibres. Between the borders of the striae and skin, there are curled, broken, reticular elastic fibres sometimes present.<sup id="cite_ref-Martinez-Quintana_2014_21-11" class="reference"><a href="#cite_note-Martinez-Quintana_2014-21"><span class="cite-bracket">[</span>21<span class="cite-bracket">]</span></a></sup> These symptoms are responsible for cobweblike skin appearances in patients with MFS.<sup id="cite_ref-Martinez-Quintana_2014_21-12" class="reference"><a href="#cite_note-Martinez-Quintana_2014-21"><span class="cite-bracket">[</span>21<span class="cite-bracket">]</span></a></sup> </p><p>Management of MFS covers many aspects, and includes lifestyle advice, physiotherapy, medication and surgery. <sup id="cite_ref-Von_Kodolitsch_2007_18-5" class="reference"><a href="#cite_note-Von_Kodolitsch_2007-18"><span class="cite-bracket">[</span>18<span class="cite-bracket">]</span></a></sup> Management of MFS includes counselling on lifestyle to reduce and restrict physical activity, endo prophylaxis, serial imaging the aorta, β-blocker medication for aortic protection and prophylactic replacement of the aortic root.<sup id="cite_ref-Von_Kodolitsch_2007_18-6" class="reference"><a href="#cite_note-Von_Kodolitsch_2007-18"><span class="cite-bracket">[</span>18<span class="cite-bracket">]</span></a></sup> In MFS affected adults, it is recommended they reduce emotional and physical stress and switch from high impact sports such as martial arts, football, basketball etc to isotonic, low impact exercise such as swimming, biking or jogging where the pulse rate lies approximately at <110 beats per minute.<sup id="cite_ref-Von_Kodolitsch_2007_18-7" class="reference"><a href="#cite_note-Von_Kodolitsch_2007-18"><span class="cite-bracket">[</span>18<span class="cite-bracket">]</span></a></sup> Children should also follow similar guidelines to ensure correct management of MFS.<sup id="cite_ref-Von_Kodolitsch_2007_18-8" class="reference"><a href="#cite_note-Von_Kodolitsch_2007-18"><span class="cite-bracket">[</span>18<span class="cite-bracket">]</span></a></sup> </p><p>MFS is caused by a mutation in the <i>FBN1</i> gene positioned at chromosome 15q21.1 resulting in a deconstructed form of Fibrillin-1.<sup id="cite_ref-Biery_1999_5-1" class="reference"><a href="#cite_note-Biery_1999-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup> Fibrillin-1 is a 350-kDa, 2871-amino acid cystine-rich glycoprotein that is responsible for the amalgamation of elastin into the elastic fibres of the connective tissue in the extracellular matrix (ECM).<sup id="cite_ref-Sakai_1986_27-0" class="reference"><a href="#cite_note-Sakai_1986-27"><span class="cite-bracket">[</span>27<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Smallridge_2003_28-0" class="reference"><a href="#cite_note-Smallridge_2003-28"><span class="cite-bracket">[</span>28<span class="cite-bracket">]</span></a></sup> The fragility of the connective tissue usually results in aortic aneurysms due to the wall having the inability to withstand intraluminal pressure.<sup id="cite_ref-Benke_2013_29-0" class="reference"><a href="#cite_note-Benke_2013-29"><span class="cite-bracket">[</span>29<span class="cite-bracket">]</span></a></sup> Defects in fibrillin-1 results in elevated TGF-β levels that directly correlate to MFS.<sup id="cite_ref-Benke_2013_29-1" class="reference"><a href="#cite_note-Benke_2013-29"><span class="cite-bracket">[</span>29<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Role_of_TGF-β"><span id="Role_of_TGF-.CE.B2"></span>Role of TGF-β</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fibrillin-1&action=edit&section=8" title="Edit section: Role of TGF-β"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p><a href="/wiki/Transforming_growth_factor_beta" title="Transforming growth factor beta">Transforming growth factor beta</a> (TGF-β) is a paracrine regulatory protein responsible for embryonic processing, cell growth, apoptosis induction, and enhances collagen production and ECM remodelling.<sup id="cite_ref-Benke_2013_29-2" class="reference"><a href="#cite_note-Benke_2013-29"><span class="cite-bracket">[</span>29<span class="cite-bracket">]</span></a></sup> In a non-MFS affected individual, the TGF-β protein is secreted from the cell to stimulate PAI-1 production and Smad2 phosphorylation.<sup id="cite_ref-Martinez-Quintana_2014_21-13" class="reference"><a href="#cite_note-Martinez-Quintana_2014-21"><span class="cite-bracket">[</span>21<span class="cite-bracket">]</span></a></sup> The TGF-β protein binds with latency associated protein (LAP) at the N-terminal properties and one of three latent TGF-β binding proteins (LTBP1, 3 or 4) to form a small latent complex (SLC).<sup id="cite_ref-Dietz_2014_30-0" class="reference"><a href="#cite_note-Dietz_2014-30"><span class="cite-bracket">[</span>30<span class="cite-bracket">]</span></a></sup> SLC then binds extracellularly to latent TGF-β binding protein (LTBP) forming a large latent complex (LLC), which includes an active cytokine.<sup id="cite_ref-Matt_2009_16-4" class="reference"><a href="#cite_note-Matt_2009-16"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup> The LLC attaches to the microfibrils of Fibrillin-1 via LTBP, allowing the preservation of inactive TGF-β [6]. TGF-β can only be activated through a series of regulated mechanisms; maintaining correct functioning in embryonic development.<sup id="cite_ref-Benke_2013_29-3" class="reference"><a href="#cite_note-Benke_2013-29"><span class="cite-bracket">[</span>29<span class="cite-bracket">]</span></a></sup> Mutations in Fibrillin-1 cause elevated levels of TGF-β in the EC space due to LLC being unable to attach to the microfibrils and latent forms not being produced.<sup id="cite_ref-Dietz_2014_30-1" class="reference"><a href="#cite_note-Dietz_2014-30"><span class="cite-bracket">[</span>30<span class="cite-bracket">]</span></a></sup> TGF-β forms a complex with its dimer receptors, to initiate a phosphorylation cascade.<sup id="cite_ref-Chaundry_2007_31-0" class="reference"><a href="#cite_note-Chaundry_2007-31"><span class="cite-bracket">[</span>31<span class="cite-bracket">]</span></a></sup> This phosphorylation can cause failures such as an aortic aneurysm and prolapsed valves.<sup id="cite_ref-Summer_2005_25-2" class="reference"><a href="#cite_note-Summer_2005-25"><span class="cite-bracket">[</span>25<span class="cite-bracket">]</span></a></sup> </p><p>Clinical symptoms of MFS such as aortic root dilation, pulmonary emphysema, atrioventricular valve changes and skeletal muscle myopathy are induced by altered TGF-β activation and signalling.<sup id="cite_ref-Matt_2009_16-5" class="reference"><a href="#cite_note-Matt_2009-16"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup> Aortic specific symptoms are closely related to excessive TGF-β signalling in the aortic root wall.<sup id="cite_ref-Matt_2009_16-6" class="reference"><a href="#cite_note-Matt_2009-16"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup> TGF-β antagonism via systemic administration of TGF-β neutralising antibody (NAb) averted the development of aortic pathologies associated with MDS, more specifically changes in the aortic wall and progressive aortic dilation.<sup id="cite_ref-Matt_2009_16-7" class="reference"><a href="#cite_note-Matt_2009-16"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup> Antagonism of TGF-β also further reduced MFS symptoms where it helped muscle regeneration, architecture and strength, pulmonary alveolar septation and mitral valve morphology.<sup id="cite_ref-Matt_2009_16-8" class="reference"><a href="#cite_note-Matt_2009-16"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup> </p><p>LLC that fails to be removed from the ECM is more vulnerable to be activated in a protease-dependent or independent manner.<sup id="cite_ref-Matt_2009_16-9" class="reference"><a href="#cite_note-Matt_2009-16"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup> MMP2 and MMP9 are select TGF-β activators and ligands and are found in higher levels in the tissues of patients affected with MFS. TGF-β in its complex and free-form can leach into the circulation due to the mutated ECM sequestration and increased LLC activation.<sup id="cite_ref-Matt_2009_16-10" class="reference"><a href="#cite_note-Matt_2009-16"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Losartan">Losartan</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fibrillin-1&action=edit&section=9" title="Edit section: Losartan"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Losartan is an angiotensin II type 1 (AT1) receptor blocker known to antagonise TGF-β signalling via inhibiting the expression and activation of TGF-β.<sup id="cite_ref-Matt_2009_16-11" class="reference"><a href="#cite_note-Matt_2009-16"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup> Losartan can work independently or with β-blocker therapy to reduce rate of change in the aortic root diameter of MFS pathology.<sup id="cite_ref-Matt_2009_16-12" class="reference"><a href="#cite_note-Matt_2009-16"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="See_also">See also</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fibrillin-1&action=edit&section=10" title="Edit section: See also"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li><a href="/wiki/Fibrillin" title="Fibrillin">Fibrillin</a></li></ul> <div class="mw-heading mw-heading2"><h2 id="Notes">Notes</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fibrillin-1&action=edit&section=11" title="Edit section: Notes"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p class="mw-empty-elt"> </p> <style data-mw-deduplicate="TemplateStyles:r1251242444">.mw-parser-output .ambox{border:1px solid #a2a9b1;border-left:10px solid #36c;background-color:#fbfbfb;box-sizing:border-box}.mw-parser-output .ambox+link+.ambox,.mw-parser-output .ambox+link+style+.ambox,.mw-parser-output .ambox+link+link+.ambox,.mw-parser-output .ambox+.mw-empty-elt+link+.ambox,.mw-parser-output .ambox+.mw-empty-elt+link+style+.ambox,.mw-parser-output .ambox+.mw-empty-elt+link+link+.ambox{margin-top:-1px}html body.mediawiki .mw-parser-output .ambox.mbox-small-left{margin:4px 1em 4px 0;overflow:hidden;width:238px;border-collapse:collapse;font-size:88%;line-height:1.25em}.mw-parser-output .ambox-speedy{border-left:10px solid #b32424;background-color:#fee7e6}.mw-parser-output .ambox-delete{border-left:10px solid #b32424}.mw-parser-output .ambox-content{border-left:10px solid #f28500}.mw-parser-output .ambox-style{border-left:10px solid #fc3}.mw-parser-output .ambox-move{border-left:10px solid #9932cc}.mw-parser-output .ambox-protection{border-left:10px solid #a2a9b1}.mw-parser-output .ambox .mbox-text{border:none;padding:0.25em 0.5em;width:100%}.mw-parser-output .ambox .mbox-image{border:none;padding:2px 0 2px 0.5em;text-align:center}.mw-parser-output .ambox .mbox-imageright{border:none;padding:2px 0.5em 2px 0;text-align:center}.mw-parser-output .ambox .mbox-empty-cell{border:none;padding:0;width:1px}.mw-parser-output .ambox .mbox-image-div{width:52px}@media(min-width:720px){.mw-parser-output .ambox{margin:0 10%}}@media print{body.ns-0 .mw-parser-output .ambox{display:none!important}}</style><table class="plainlinks metadata ambox ambox-notice" role="presentation" style="margin: 0 10%; border: 1px solid #aaa; border-left: 10px solid #1e90ff; background: #fbfbfb;"><tbody><tr><td class="mbox-image"><div class="mbox-image-div"><span typeof="mw:File"><a href="http://www.example.com" title="Journal" rel="nofollow"><img alt="Journal" src="//upload.wikimedia.org/wikipedia/commons/thumb/6/63/Journal_Icon.svg/48px-Journal_Icon.svg.png" decoding="async" width="48" height="44" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/6/63/Journal_Icon.svg/72px-Journal_Icon.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/6/63/Journal_Icon.svg/96px-Journal_Icon.svg.png 2x" data-file-width="525" data-file-height="479" /></a></span></div></td><td class="mbox-text"><div class="mbox-text-span">The 2018 version of this article was updated by an external expert under a dual publication model. The corresponding <a href="/wiki/Scholarly_peer_review" title="Scholarly peer review">academic peer reviewed</a> article was published in <i><b>Gene </b></i> and can be cited as:<br /><style data-mw-deduplicate="TemplateStyles:r1238218222">.mw-parser-output cite.citation{font-style:inherit;word-wrap:break-word}.mw-parser-output .citation q{quotes:"\"""\"""'""'"}.mw-parser-output .citation:target{background-color:rgba(0,127,255,0.133)}.mw-parser-output .id-lock-free.id-lock-free a{background:url("//upload.wikimedia.org/wikipedia/commons/6/65/Lock-green.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-limited.id-lock-limited a,.mw-parser-output .id-lock-registration.id-lock-registration a{background:url("//upload.wikimedia.org/wikipedia/commons/d/d6/Lock-gray-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-subscription.id-lock-subscription a{background:url("//upload.wikimedia.org/wikipedia/commons/a/aa/Lock-red-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .cs1-ws-icon a{background:url("//upload.wikimedia.org/wikipedia/commons/4/4c/Wikisource-logo.svg")right 0.1em center/12px no-repeat}body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-free a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-limited a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-registration a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-subscription a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .cs1-ws-icon a{background-size:contain;padding:0 1em 0 0}.mw-parser-output .cs1-code{color:inherit;background:inherit;border:none;padding:inherit}.mw-parser-output .cs1-hidden-error{display:none;color:var(--color-error,#d33)}.mw-parser-output .cs1-visible-error{color:var(--color-error,#d33)}.mw-parser-output .cs1-maint{display:none;color:#085;margin-left:0.3em}.mw-parser-output .cs1-kern-left{padding-left:0.2em}.mw-parser-output .cs1-kern-right{padding-right:0.2em}.mw-parser-output .citation .mw-selflink{font-weight:inherit}@media screen{.mw-parser-output .cs1-format{font-size:95%}html.skin-theme-clientpref-night .mw-parser-output .cs1-maint{color:#18911f}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .cs1-maint{color:#18911f}}</style><cite class="citation journal cs1">Lynn Y Sakai, Douglas R Keene, Marjolijn Renard, Julie De Backer (17 July 2016). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6639799">"FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders"</a>. <i><a href="/wiki/Gene_(journal)" title="Gene (journal)">Gene</a></i>. Gene Wiki Review Series. <b>591</b> (1): <span class="nowrap">279–</span>291. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1016%2FJ.GENE.2016.07.033">10.1016/J.GENE.2016.07.033</a>. <a href="/wiki/ISSN_(identifier)" class="mw-redirect" title="ISSN (identifier)">ISSN</a> <a rel="nofollow" class="external text" href="https://search.worldcat.org/issn/0378-1119">0378-1119</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6639799">6639799</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/27437668">27437668</a>. <a href="/wiki/WDQ_(identifier)" class="mw-redirect" title="WDQ (identifier)">Wikidata</a> <a href="https://www.wikidata.org/wiki/Q38903109" class="extiw" title="d:Q38903109">Q38903109</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Gene&rft.atitle=FBN1%3A+The+disease-causing+gene+for+Marfan+syndrome+and+other+genetic+disorders&rft.volume=591&rft.issue=1&rft.pages=%3Cspan+class%3D%22nowrap%22%3E279-%3C%2Fspan%3E291&rft.date=2016-07-17&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC6639799%23id-name%3DPMC&rft.issn=0378-1119&rft_id=info%3Apmid%2F27437668&rft_id=info%3Adoi%2F10.1016%2FJ.GENE.2016.07.033&rft.au=Lynn+Y+Sakai&rft.au=Douglas+R+Keene&rft.au=Marjolijn+Renard&rft.au=Julie+De+Backer&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC6639799&rfr_id=info%3Asid%2Fen.wikipedia.org%3AFibrillin-1" class="Z3988"></span></div></td></tr></tbody></table> <div class="mw-heading mw-heading2"><h2 id="References">References</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fibrillin-1&action=edit&section=12" title="Edit section: References"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <style data-mw-deduplicate="TemplateStyles:r1239543626">.mw-parser-output .reflist{margin-bottom:0.5em;list-style-type:decimal}@media screen{.mw-parser-output .reflist{font-size:90%}}.mw-parser-output .reflist .references{font-size:100%;margin-bottom:0;list-style-type:inherit}.mw-parser-output .reflist-columns-2{column-width:30em}.mw-parser-output .reflist-columns-3{column-width:25em}.mw-parser-output .reflist-columns{margin-top:0.3em}.mw-parser-output .reflist-columns ol{margin-top:0}.mw-parser-output .reflist-columns li{page-break-inside:avoid;break-inside:avoid-column}.mw-parser-output .reflist-upper-alpha{list-style-type:upper-alpha}.mw-parser-output .reflist-upper-roman{list-style-type:upper-roman}.mw-parser-output .reflist-lower-alpha{list-style-type:lower-alpha}.mw-parser-output .reflist-lower-greek{list-style-type:lower-greek}.mw-parser-output .reflist-lower-roman{list-style-type:lower-roman}</style><div class="reflist"> <div class="mw-references-wrap mw-references-columns"><ol class="references"> <li id="cite_note-refGRCh38Ensembl-1"><span class="mw-cite-backlink">^ <a href="#cite_ref-refGRCh38Ensembl_1-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-refGRCh38Ensembl_1-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-refGRCh38Ensembl_1-2"><sup><i><b>c</b></i></sup></a></span> <span class="reference-text"><a rel="nofollow" class="external text" href="http://May2017.archive.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000166147">GRCh38: Ensembl release 89: ENSG00000166147</a> – <a href="/wiki/Ensembl_genome_database_project" title="Ensembl genome database project">Ensembl</a>, May 2017</span> </li> <li id="cite_note-refGRCm38Ensembl-2"><span class="mw-cite-backlink">^ <a 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Marfan syndrome: from molecules to medicines"</a>. <i>American Journal of Human Genetics</i>. <b>81</b> (4): <span class="nowrap">662–</span>7. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1086%2F521409">10.1086/521409</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2227916">2227916</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/20529617">20529617</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=American+Journal+of+Human+Genetics&rft.atitle=2006+Curt+Stern+Award+Address.+Marfan+syndrome%3A+from+molecules+to+medicines&rft.volume=81&rft.issue=4&rft.pages=%3Cspan+class%3D%22nowrap%22%3E662-%3C%2Fspan%3E7&rft.date=2007-10&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC2227916%23id-name%3DPMC&rft_id=info%3Apmid%2F20529617&rft_id=info%3Adoi%2F10.1086%2F521409&rft.aulast=Dietz&rft.aufirst=HC&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC2227916&rfr_id=info%3Asid%2Fen.wikipedia.org%3AFibrillin-1" class="Z3988"></span></span> </li> <li id="cite_note-Chaundry_2007-31"><span class="mw-cite-backlink"><b><a href="#cite_ref-Chaundry_2007_31-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222" /><cite id="CITEREFChaudhryCainMorganDallas2007" class="citation journal cs1">Chaudhry SS, Cain SA, Morgan A, Dallas SL, Shuttleworth CA, Kielty CM (January 2007). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2063961">"Fibrillin-1 regulates the bioavailability of TGFbeta1"</a>. <i>The Journal of Cell Biology</i>. <b>176</b> (3): <span class="nowrap">355–</span>67. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1083%2Fjcb.200608167">10.1083/jcb.200608167</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2063961">2063961</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/17242066">17242066</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=The+Journal+of+Cell+Biology&rft.atitle=Fibrillin-1+regulates+the+bioavailability+of+TGFbeta1&rft.volume=176&rft.issue=3&rft.pages=%3Cspan+class%3D%22nowrap%22%3E355-%3C%2Fspan%3E67&rft.date=2007-01&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC2063961%23id-name%3DPMC&rft_id=info%3Apmid%2F17242066&rft_id=info%3Adoi%2F10.1083%2Fjcb.200608167&rft.aulast=Chaudhry&rft.aufirst=SS&rft.au=Cain%2C+SA&rft.au=Morgan%2C+A&rft.au=Dallas%2C+SL&rft.au=Shuttleworth%2C+CA&rft.au=Kielty%2C+CM&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC2063961&rfr_id=info%3Asid%2Fen.wikipedia.org%3AFibrillin-1" class="Z3988"></span></span> </li> </ol></div></div> <div class="mw-heading mw-heading2"><h2 id="Further_reading">Further reading</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fibrillin-1&action=edit&section=13" title="Edit section: Further reading"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <style data-mw-deduplicate="TemplateStyles:r1239549316">.mw-parser-output .refbegin{margin-bottom:0.5em}.mw-parser-output .refbegin-hanging-indents>ul{margin-left:0}.mw-parser-output .refbegin-hanging-indents>ul>li{margin-left:0;padding-left:3.2em;text-indent:-3.2em}.mw-parser-output .refbegin-hanging-indents ul,.mw-parser-output .refbegin-hanging-indents ul li{list-style:none}@media(max-width:720px){.mw-parser-output .refbegin-hanging-indents>ul>li{padding-left:1.6em;text-indent:-1.6em}}.mw-parser-output .refbegin-columns{margin-top:0.3em}.mw-parser-output .refbegin-columns ul{margin-top:0}.mw-parser-output .refbegin-columns li{page-break-inside:avoid;break-inside:avoid-column}@media screen{.mw-parser-output .refbegin{font-size:90%}}</style><div class="refbegin refbegin-columns references-column-width" style="column-width: 30em"> <ul><li><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222" /><cite id="CITEREFHaywardBrock1998" class="citation journal cs1">Hayward C, Brock DJ (1998). <a rel="nofollow" class="external text" href="https://doi.org/10.1002%2F%28SICI%291098-1004%281997%2910%3A6%3C415%3A%3AAID-HUMU1%3E3.0.CO%3B2-C">"Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies"</a>. <i>Human Mutation</i>. <b>10</b> (6): <span class="nowrap">415–</span>23. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://doi.org/10.1002%2F%28SICI%291098-1004%281997%2910%3A6%3C415%3A%3AAID-HUMU1%3E3.0.CO%3B2-C">10.1002/(SICI)1098-1004(1997)10:6<415::AID-HUMU1>3.0.CO;2-C</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/9401003">9401003</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:41867728">41867728</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Human+Mutation&rft.atitle=Fibrillin-1+mutations+in+Marfan+syndrome+and+other+type-1+fibrillinopathies&rft.volume=10&rft.issue=6&rft.pages=%3Cspan+class%3D%22nowrap%22%3E415-%3C%2Fspan%3E23&rft.date=1998&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A41867728%23id-name%3DS2CID&rft_id=info%3Apmid%2F9401003&rft_id=info%3Adoi%2F10.1002%2F%28SICI%291098-1004%281997%2910%3A6%3C415%3A%3AAID-HUMU1%3E3.0.CO%3B2-C&rft.aulast=Hayward&rft.aufirst=C&rft.au=Brock%2C+DJ&rft_id=https%3A%2F%2Fdoi.org%2F10.1002%252F%2528SICI%25291098-1004%25281997%252910%253A6%253C415%253A%253AAID-HUMU1%253E3.0.CO%253B2-C&rfr_id=info%3Asid%2Fen.wikipedia.org%3AFibrillin-1" class="Z3988"></span></li> <li><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222" /><cite id="CITEREFRobinsonGodfrey2000" class="citation journal cs1">Robinson PN, Godfrey M (January 2000). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734449">"The molecular genetics of Marfan syndrome and related microfibrillopathies"</a>. <i>Journal of Medical Genetics</i>. <b>37</b> (1): <span class="nowrap">9–</span>25. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1136%2Fjmg.37.1.9">10.1136/jmg.37.1.9</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734449">1734449</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/10633129">10633129</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Journal+of+Medical+Genetics&rft.atitle=The+molecular+genetics+of+Marfan+syndrome+and+related+microfibrillopathies&rft.volume=37&rft.issue=1&rft.pages=%3Cspan+class%3D%22nowrap%22%3E9-%3C%2Fspan%3E25&rft.date=2000-01&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC1734449%23id-name%3DPMC&rft_id=info%3Apmid%2F10633129&rft_id=info%3Adoi%2F10.1136%2Fjmg.37.1.9&rft.aulast=Robinson&rft.aufirst=PN&rft.au=Godfrey%2C+M&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC1734449&rfr_id=info%3Asid%2Fen.wikipedia.org%3AFibrillin-1" class="Z3988"></span></li> <li><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222" /><cite id="CITEREFHandford2000" class="citation journal cs1">Handford PA (December 2000). <a rel="nofollow" class="external text" href="https://doi.org/10.1016%2Fs0167-4889%2800%2900085-9">"Fibrillin-1, a calcium binding protein of extracellular matrix"</a>. <i>Biochimica et Biophysica Acta (BBA) - Molecular Cell Research</i>. <b>1498</b> (<span class="nowrap">2–</span>3): <span class="nowrap">84–</span>90. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://doi.org/10.1016%2Fs0167-4889%2800%2900085-9">10.1016/s0167-4889(00)00085-9</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/11108952">11108952</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Biochimica+et+Biophysica+Acta+%28BBA%29+-+Molecular+Cell+Research&rft.atitle=Fibrillin-1%2C+a+calcium+binding+protein+of+extracellular+matrix&rft.volume=1498&rft.issue=%3Cspan+class%3D%22nowrap%22%3E2%E2%80%93%3C%2Fspan%3E3&rft.pages=%3Cspan+class%3D%22nowrap%22%3E84-%3C%2Fspan%3E90&rft.date=2000-12&rft_id=info%3Adoi%2F10.1016%2Fs0167-4889%2800%2900085-9&rft_id=info%3Apmid%2F11108952&rft.aulast=Handford&rft.aufirst=PA&rft_id=https%3A%2F%2Fdoi.org%2F10.1016%252Fs0167-4889%252800%252900085-9&rfr_id=info%3Asid%2Fen.wikipedia.org%3AFibrillin-1" class="Z3988"></span></li> <li><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222" /><cite id="CITEREFRobinsonBoomsKatzkeLadewig2002" class="citation journal cs1">Robinson PN, Booms P, Katzke S, Ladewig M, Neumann L, Palz M, et al. 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"Molecular genetics of Marfan syndrome". <i>Current Opinion in Cardiology</i>. <b>20</b> (3): <span class="nowrap">194–</span>200. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1097%2F01.hco.0000162398.21972.cd">10.1097/01.hco.0000162398.21972.cd</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/15861007">15861007</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:26269805">26269805</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Current+Opinion+in+Cardiology&rft.atitle=Molecular+genetics+of+Marfan+syndrome&rft.volume=20&rft.issue=3&rft.pages=%3Cspan+class%3D%22nowrap%22%3E194-%3C%2Fspan%3E200&rft.date=2005-05&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A26269805%23id-name%3DS2CID&rft_id=info%3Apmid%2F15861007&rft_id=info%3Adoi%2F10.1097%2F01.hco.0000162398.21972.cd&rft.aulast=Boileau&rft.aufirst=C&rft.au=Jondeau%2C+G&rft.au=Mizuguchi%2C+T&rft.au=Matsumoto%2C+N&rfr_id=info%3Asid%2Fen.wikipedia.org%3AFibrillin-1" class="Z3988"></span></li> <li><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222" /><cite id="CITEREFWhitemanHutchinsonHandford2006" class="citation journal cs1">Whiteman P, Hutchinson S, Handford PA (2006). 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FIBRILLIN-1, HOLO FORM."><img alt="1uzj: INTEGRIN BINDING CBEGF22-TB4-CBEGF33 FRAGMENT OF HUMAN FIBRILLIN-1, HOLO FORM." src="//upload.wikimedia.org/wikipedia/commons/thumb/c/c8/PDB_1uzj_EBI.jpg/180px-PDB_1uzj_EBI.jpg" decoding="async" width="180" height="135" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/c/c8/PDB_1uzj_EBI.jpg/270px-PDB_1uzj_EBI.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/c/c8/PDB_1uzj_EBI.jpg/360px-PDB_1uzj_EBI.jpg 2x" data-file-width="800" data-file-height="600" /></a></span></div> <div class="gallerytext"><b>1uzj</b>: INTEGRIN BINDING CBEGF22-TB4-CBEGF33 FRAGMENT OF HUMAN FIBRILLIN-1, HOLO FORM.</div> </li> <li class="gallerybox" style="width: 215px"> <div class="thumb" style="width: 210px; height: 210px;"><span typeof="mw:File"><a href="/wiki/File:PDB_1uzk_EBI.jpg" class="mw-file-description" title="1uzk: INTEGRIN BINDING CBEGF22-TB4-CBEGF33 FRAGMENT OF HUMAN FIBRILLIN-1, CA BOUND TO CBEGF23 DOMAIN ONLY"><img alt="1uzk: INTEGRIN BINDING CBEGF22-TB4-CBEGF33 FRAGMENT OF HUMAN FIBRILLIN-1, CA BOUND TO CBEGF23 DOMAIN ONLY" src="//upload.wikimedia.org/wikipedia/commons/thumb/7/76/PDB_1uzk_EBI.jpg/250px-PDB_1uzk_EBI.jpg" decoding="async" width="180" height="135" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/7/76/PDB_1uzk_EBI.jpg/330px-PDB_1uzk_EBI.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/7/76/PDB_1uzk_EBI.jpg/500px-PDB_1uzk_EBI.jpg 2x" data-file-width="800" data-file-height="600" /></a></span></div> <div class="gallerytext"><b>1uzk</b>: INTEGRIN BINDING CBEGF22-TB4-CBEGF33 FRAGMENT OF HUMAN FIBRILLIN-1, CA BOUND TO CBEGF23 DOMAIN ONLY</div> </li> <li class="gallerybox" style="width: 215px"> <div class="thumb" style="width: 210px; height: 210px;"><span typeof="mw:File"><a href="/wiki/File:PDB_1uzp_EBI.jpg" class="mw-file-description" title="1uzp: INTEGRIN BINDING CBEGF22-TB4-CBEGF33 FRAGMENT OF HUMAN FIBRILLIN-1, SM BOUND FORM CBEGF23 DOMAIN ONLY."><img alt="1uzp: INTEGRIN BINDING CBEGF22-TB4-CBEGF33 FRAGMENT OF HUMAN FIBRILLIN-1, SM BOUND FORM CBEGF23 DOMAIN ONLY." src="//upload.wikimedia.org/wikipedia/commons/thumb/6/66/PDB_1uzp_EBI.jpg/180px-PDB_1uzp_EBI.jpg" decoding="async" width="180" height="135" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/6/66/PDB_1uzp_EBI.jpg/270px-PDB_1uzp_EBI.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/6/66/PDB_1uzp_EBI.jpg/360px-PDB_1uzp_EBI.jpg 2x" data-file-width="800" data-file-height="600" /></a></span></div> <div class="gallerytext"><b>1uzp</b>: INTEGRIN BINDING CBEGF22-TB4-CBEGF33 FRAGMENT OF HUMAN FIBRILLIN-1, SM BOUND FORM CBEGF23 DOMAIN ONLY.</div> </li> <li class="gallerybox" style="width: 215px"> <div class="thumb" style="width: 210px; height: 210px;"><span typeof="mw:File"><a href="/wiki/File:PDB_1uzq_EBI.jpg" class="mw-file-description" title="1uzq: INTEGRIN BINDING CBEGF22-TB4-CBEGF33 FRAGMENT OF HUMAN FIBRILLIN-1, APO FORM CBEGF23 DOMAIN ONLY."><img alt="1uzq: INTEGRIN BINDING CBEGF22-TB4-CBEGF33 FRAGMENT OF HUMAN FIBRILLIN-1, APO FORM CBEGF23 DOMAIN ONLY." src="//upload.wikimedia.org/wikipedia/commons/thumb/2/24/PDB_1uzq_EBI.jpg/250px-PDB_1uzq_EBI.jpg" decoding="async" width="180" height="135" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/2/24/PDB_1uzq_EBI.jpg/330px-PDB_1uzq_EBI.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/2/24/PDB_1uzq_EBI.jpg/500px-PDB_1uzq_EBI.jpg 2x" data-file-width="800" data-file-height="600" /></a></span></div> <div class="gallerytext"><b>1uzq</b>: INTEGRIN BINDING CBEGF22-TB4-CBEGF33 FRAGMENT OF HUMAN FIBRILLIN-1, APO FORM CBEGF23 DOMAIN ONLY.</div> </li> </ul></div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374" /><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235" /></div><div role="navigation" class="navbox" aria-labelledby="Connective_tissue47" style="padding:3px"><table class="nowraplinks hlist mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374" /><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1239400231" /><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Connective_tissues" title="Template:Connective tissues"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Connective_tissues" title="Template talk:Connective tissues"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Connective_tissues" title="Special:EditPage/Template:Connective tissues"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Connective_tissue47" style="font-size:114%;margin:0 4em"><a href="/wiki/Connective_tissue" title="Connective tissue">Connective tissue</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%">Physiology</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Soft_tissue" title="Soft tissue">Soft tissue</a></li> <li><a href="/wiki/Fibrosis" title="Fibrosis">Fibrosis</a></li> <li><a href="/wiki/Scar" title="Scar">Scarring</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Composition</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Extracellular_matrix#Cell_types_involved_in_ECM_formation" title="Extracellular matrix">Cells</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%">Resident</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Fibroblast" title="Fibroblast">Fibroblast</a></li> <li><a href="/wiki/Fibrocyte" title="Fibrocyte">Fibrocyte</a></li> <li><a href="/wiki/Reticular_cell" title="Reticular cell">Reticular cell</a></li> <li><a href="/wiki/Tendon_cell" title="Tendon cell">Tendon cell</a></li> <li><a href="/wiki/Adipocyte" title="Adipocyte">Adipocyte</a></li> <li><a href="/wiki/Melanocyte" title="Melanocyte">Melanocyte</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Wandering_cell" title="Wandering cell">Wandering 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class="mw-redirect" title="Interstitial fluid">Tissue fluid</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Extracellular_matrix#Fibers" title="Extracellular matrix">Fibers</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Collagen" title="Collagen">Collagen fibers</a></li> <li><a href="/wiki/Reticular_fiber" title="Reticular fiber">Reticular fibers</a> <ul><li><a href="/wiki/Collagen,_type_III,_alpha_1" title="Collagen, type III, alpha 1">COL3A1</a></li></ul></li> <li><a href="/wiki/Elastic_fiber" title="Elastic fiber">Elastic fibers</a> <ul><li><a href="/wiki/Elastin" title="Elastin">Elastin</a></li> <li><a href="/wiki/Fibrillin" title="Fibrillin">Fibrillin</a></li> <li><a href="/wiki/FBN1" class="mw-redirect" title="FBN1">FBN1</a> <ul><li><a href="/wiki/Fibrillin" title="Fibrillin">FBN2</a></li> <li><a href="/wiki/Fibrillin" title="Fibrillin">FBN3</a></li></ul></li> <li><a href="/wiki/EMILIN1" title="EMILIN1">EMILIN1</a></li> <li><a href="/wiki/Elaunin" title="Elaunin">Elaunin</a></li></ul></li></ul> </div></td></tr></tbody></table><div></div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Types</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Connective_tissue_proper" class="mw-redirect" title="Connective tissue proper">Proper</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Loose_connective_tissue" title="Loose connective tissue">Loose</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Reticular_connective_tissue" title="Reticular connective tissue">Reticular</a></li> <li><a href="/wiki/Adipose_tissue" title="Adipose tissue">Adipose</a> <ul><li><a href="/wiki/Brown_adipose_tissue" title="Brown adipose tissue">Brown</a></li> <li><a href="/wiki/White_adipose_tissue" title="White adipose tissue">White</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Dense_connective_tissue" title="Dense connective tissue">Dense</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Dense_irregular_connective_tissue" title="Dense irregular connective tissue">Dense irregular connective tissue</a> <ul><li><a href="/wiki/Submucosa" title="Submucosa">Submucosa</a></li> <li><a href="/wiki/Dermis" title="Dermis">Dermis</a></li></ul></li> <li><a href="/wiki/Dense_regular_connective_tissue" title="Dense regular connective tissue">Dense regular connective tissue</a> <ul><li><a href="/wiki/Ligament" title="Ligament">Ligament</a></li> <li><a href="/wiki/Tendon" title="Tendon">Tendon</a></li> <li><a href="/wiki/Aponeurosis" title="Aponeurosis">Aponeurosis</a></li></ul></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Connective_tissue#Embryonic_connective_tissues" title="Connective tissue">Embryonic</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Mucoid_connective_tissue" class="mw-redirect" title="Mucoid connective tissue">Mucoid</a></li> <li><a href="/wiki/Mesenchyme" title="Mesenchyme">Mesenchymal</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Connective_tissue#Specialized_connective_tissues" title="Connective tissue">Specialized</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Cartilage" title="Cartilage">Cartilage</a> <ul><li><a href="/wiki/Elastic_cartilage" title="Elastic cartilage">Elastic</a></li> <li><a href="/wiki/Hyaline_cartilage" title="Hyaline cartilage">Hyaline</a></li> <li><a href="/wiki/Fibrocartilage" title="Fibrocartilage">Fibrocartilage</a></li></ul></li> <li><a href="/wiki/Bone" title="Bone">Bone</a></li> <li><a href="/wiki/Blood" title="Blood">Blood</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr></tbody></table></div>    </div><noscript><img src="https://auth.wikimedia.org/loginwiki/wiki/Special:CentralAutoLogin/start?useformat=desktop&type=1x1&usesul3=1" alt="" width="1" height="1" style="border: 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