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lang="cy" hreflang="cy" data-title="HMBS" data-language-autonym="Cymraeg" data-language-local-name="Welsh" class="interlanguage-link-target"><span>Cymraeg</span></a></li><li class="interlanguage-link interwiki-de mw-list-item"><a href="https://de.wikipedia.org/wiki/Porphobilinogen-Desaminase" title="Porphobilinogen-Desaminase – German" lang="de" hreflang="de" data-title="Porphobilinogen-Desaminase" data-language-autonym="Deutsch" data-language-local-name="German" class="interlanguage-link-target"><span>Deutsch</span></a></li><li class="interlanguage-link interwiki-es mw-list-item"><a href="https://es.wikipedia.org/wiki/HMBS" title="HMBS – Spanish" lang="es" hreflang="es" data-title="HMBS" data-language-autonym="Español" data-language-local-name="Spanish" class="interlanguage-link-target"><span>Español</span></a></li><li class="interlanguage-link interwiki-it mw-list-item"><a href="https://it.wikipedia.org/wiki/Porfobilinogeno_deaminasi" title="Porfobilinogeno deaminasi – Italian" lang="it" hreflang="it" data-title="Porfobilinogeno deaminasi" data-language-autonym="Italiano" data-language-local-name="Italian" class="interlanguage-link-target"><span>Italiano</span></a></li><li class="interlanguage-link interwiki-la mw-list-item"><a href="https://la.wikipedia.org/wiki/Porphobilinogeni_deaminasis" title="Porphobilinogeni deaminasis – Latin" lang="la" hreflang="la" data-title="Porphobilinogeni deaminasis" data-language-autonym="Latina" data-language-local-name="Latin" class="interlanguage-link-target"><span>Latina</span></a></li><li class="interlanguage-link interwiki-ja mw-list-item"><a href="https://ja.wikipedia.org/wiki/%E3%83%9D%E3%83%AB%E3%83%95%E3%82%A9%E3%83%93%E3%83%AA%E3%83%8E%E3%83%BC%E3%82%B2%E3%83%B3%E3%83%87%E3%82%A2%E3%83%9F%E3%83%8A%E3%83%BC%E3%82%BC" title="ポルフォビリノーゲンデアミナーゼ – Japanese" lang="ja" hreflang="ja" data-title="ポルフォビリノーゲンデアミナーゼ" data-language-autonym="日本語" data-language-local-name="Japanese" class="interlanguage-link-target"><span>日本語</span></a></li><li class="interlanguage-link interwiki-sr mw-list-item"><a href="https://sr.wikipedia.org/wiki/Hidroksimetilbilan_sintaza" title="Hidroksimetilbilan sintaza – Serbian" lang="sr" hreflang="sr" data-title="Hidroksimetilbilan sintaza" data-language-autonym="Српски / srpski" data-language-local-name="Serbian" class="interlanguage-link-target"><span>Српски / srpski</span></a></li><li class="interlanguage-link interwiki-sh mw-list-item"><a href="https://sh.wikipedia.org/wiki/Hidroksimetilbilan_sintaza" title="Hidroksimetilbilan sintaza – Serbo-Croatian" lang="sh" hreflang="sh" data-title="Hidroksimetilbilan sintaza" data-language-autonym="Srpskohrvatski / српскохрватски" data-language-local-name="Serbo-Croatian" class="interlanguage-link-target"><span>Srpskohrvatski / српскохрватски</span></a></li><li class="interlanguage-link interwiki-fi mw-list-item"><a href="https://fi.wikipedia.org/wiki/Porfobilinogeenideaminaasi" 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</div> </div> <div class="vector-column-end"> <div class="vector-sticky-pinned-container"> <nav class="vector-page-tools-landmark" aria-label="Page tools"> <div id="vector-page-tools-pinned-container" class="vector-pinned-container"> </div> </nav> <nav class="vector-appearance-landmark" aria-label="Appearance"> <div id="vector-appearance-pinned-container" class="vector-pinned-container"> <div id="vector-appearance" class="vector-appearance vector-pinnable-element"> <div class="vector-pinnable-header vector-appearance-pinnable-header vector-pinnable-header-pinned" data-feature-name="appearance-pinned" data-pinnable-element-id="vector-appearance" data-pinned-container-id="vector-appearance-pinned-container" data-unpinned-container-id="vector-appearance-unpinned-container" > <div class="vector-pinnable-header-label">Appearance</div> <button class="vector-pinnable-header-toggle-button vector-pinnable-header-pin-button" data-event-name="pinnable-header.vector-appearance.pin">move to sidebar</button> <button class="vector-pinnable-header-toggle-button vector-pinnable-header-unpin-button" data-event-name="pinnable-header.vector-appearance.unpin">hide</button> </div> </div> </div> </nav> </div> </div> <div id="bodyContent" class="vector-body" aria-labelledby="firstHeading" data-mw-ve-target-container> <div class="vector-body-before-content"> <div class="mw-indicators"> </div> <div id="siteSub" class="noprint">From Wikipedia, the free encyclopedia</div> </div> <div id="contentSub"><div id="mw-content-subtitle"></div></div> <div id="mw-content-text" class="mw-body-content"><div class="mw-content-ltr mw-parser-output" lang="en" dir="ltr"><table class="infobox" style="width:26.4em"><tbody><tr><th colspan="4" style="text-align:center;font-size:125%;font-weight:bold">HMBS</th></tr><tr><td colspan="4" style="text-align:center"><span typeof="mw:File"><a href="/wiki/File:Protein_HMBS_PDB_3ECR.png" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/a/af/Protein_HMBS_PDB_3ECR.png/250px-Protein_HMBS_PDB_3ECR.png" decoding="async" width="250" height="208" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/a/af/Protein_HMBS_PDB_3ECR.png/375px-Protein_HMBS_PDB_3ECR.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/a/af/Protein_HMBS_PDB_3ECR.png/500px-Protein_HMBS_PDB_3ECR.png 2x" data-file-width="1200" data-file-height="1000" /></a></span></td></tr><tr><td colspan="4" style="text-align:center;background-color:#eee"><table style="padding:0;border:none;margin:0;width:100%;text-align:left"><tbody><tr><th colspan="4" style="text-align:center;background-color:#ddd">Available structures</th></tr><tr><th rowspan="2" style="background-color:#c3fdb8;width:43px"><a href="/wiki/Protein_Data_Bank" title="Protein Data Bank">PDB</a></th><td colspan="2" style="background-color:#eee">Ortholog search: <span class="plainlinks"><a rel="nofollow" class="external text" href="https://www.ebi.ac.uk/pdbe/searchResults.html?display=both&term=P22907%20or%20P08397">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:P22907,P08397">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="background-color:#ddd;text-align:center"><th colspan="2">List of PDB id codes</th></tr><tr><td colspan="2" style="background-color:#eee"><p><span class="plainlinks"><a rel="nofollow" class="external text" href="https://www.rcsb.org/structure/3ECR">3ECR</a>, <a rel="nofollow" class="external text" href="https://www.rcsb.org/structure/3EQ1">3EQ1</a></span></p></td></tr></tbody></table></td></tr></tbody></table></td></tr><tr><th colspan="4" style="text-align:center;background-color:#ddd">Identifiers</th></tr><tr><th scope="row" style="background-color:#c3fdb8"><span class="plainlinks"><a href="/wiki/Gene_nomenclature" title="Gene nomenclature">Aliases</a></span></th><td colspan="3" style="background:#eee"><span class="plainlinks"><a rel="nofollow" class="external text" href="https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/4982">HMBS</a></span>, PBG-D, PBGD, PORC, UPS, hydroxymethylbilane synthase</td></tr><tr><th scope="row" style="background-color:#c3fdb8">External IDs</th><td colspan="3" style="background-color:#eee"><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/609806">609806</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:96112">96112</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=158">158</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=HMBS">HMBS</a>; <a href="/wiki/Orthologous_MAtrix" title="Orthologous MAtrix">OMA</a>:<a rel="nofollow" class="external text" href="https://omabrowser.org/oma/vps/ENSG00000256269">HMBS - orthologs</a></span></td></tr><tr><td colspan="4" style="text-align:center;background-color:#eee"><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:#ddd">Gene location (<a href="/wiki/Human_genome" title="Human genome">Human</a>)</th></tr><tr><td colspan="4" style="text-align:center;background-color:#eee"><span typeof="mw:File"><a href="/wiki/File:Ideogram_human_chromosome_11.svg" class="mw-file-description" title="Chromosome 11 (human)"><img alt="Chromosome 11 (human)" src="//upload.wikimedia.org/wikipedia/commons/thumb/4/4e/Ideogram_human_chromosome_11.svg/300px-Ideogram_human_chromosome_11.svg.png" decoding="async" width="300" height="120" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/4/4e/Ideogram_human_chromosome_11.svg/450px-Ideogram_human_chromosome_11.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/4/4e/Ideogram_human_chromosome_11.svg/600px-Ideogram_human_chromosome_11.svg.png 2x" data-file-width="474" data-file-height="189" /></a></span></td></tr><tr><th scope="row" width="15%" style="background-color:#c3fdb8"><a href="/wiki/Chromosome" title="Chromosome">Chr.</a></th><td colspan="3" width="85%" style="background-color:#eee"><span class="plainlinks"><a href="/wiki/Chromosome_11_(human)" class="mw-redirect" title="Chromosome 11 (human)">Chromosome 11 (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:#eee"><div align="center"><div style="position: relative; width: 300px;"><span typeof="mw:File"><a href="/wiki/File:Human_chromosome_11_ideogram.svg" class="mw-file-description" title="Chromosome 11 (human)"><img alt="Chromosome 11 (human)" src="//upload.wikimedia.org/wikipedia/commons/thumb/4/43/Human_chromosome_11_ideogram.svg/300px-Human_chromosome_11_ideogram.svg.png" decoding="async" width="300" height="58" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/4/43/Human_chromosome_11_ideogram.svg/450px-Human_chromosome_11_ideogram.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/4/43/Human_chromosome_11_ideogram.svg/600px-Human_chromosome_11_ideogram.svg.png 2x" data-file-width="1125" data-file-height="216" /></a></span><div style="position: absolute; left: 253.90126227762px; 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 HMBS"><img alt="Genomic location for HMBS" 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: 259.9px; top: 19px; padding: 0;"><span typeof="mw:File"><a href="/wiki/File:Red_rectangle_2x18.png" class="mw-file-description" title="Genomic location for HMBS"><img alt="Genomic location for HMBS" 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:#c3fdb8"><a href="/wiki/Locus_(genetics)" title="Locus (genetics)">Band</a></th><td rowspan="2" width="35%" style="background-color:#eee"><span class="plainlinks">11q23.3</span></td><th scope="row" style="background-color:#c3fdb8">Start</th><td style="background-color:#eee"><span class="plainlinks">119,084,866 <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:#c3fdb8">End</th><td style="background-color:#eee"><span class="plainlinks">119,093,834 <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:#eee"><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:#ddd">Gene location (<a href="/wiki/Laboratory_mouse" title="Laboratory mouse">Mouse</a>)</th></tr><tr><td colspan="4" style="text-align:center;background-color:#eee"><span typeof="mw:File"><a href="/wiki/File:Ideogram_house_mouse_chromosome_9.svg" class="mw-file-description" title="Chromosome 9 (mouse)"><img alt="Chromosome 9 (mouse)" src="//upload.wikimedia.org/wikipedia/commons/thumb/4/41/Ideogram_house_mouse_chromosome_9.svg/260px-Ideogram_house_mouse_chromosome_9.svg.png" decoding="async" width="260" height="111" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/4/41/Ideogram_house_mouse_chromosome_9.svg/390px-Ideogram_house_mouse_chromosome_9.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/4/41/Ideogram_house_mouse_chromosome_9.svg/520px-Ideogram_house_mouse_chromosome_9.svg.png 2x" data-file-width="470" data-file-height="200" /></a></span></td></tr><tr><th scope="row" width="15%" style="background-color:#c3fdb8"><a href="/wiki/Chromosome" title="Chromosome">Chr.</a></th><td colspan="3" width="85%" style="background-color:#eee"><span class="plainlinks">Chromosome 9 (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:#eee"><div align="center"><div style="position: relative; width: 300px;"><span typeof="mw:File"><a href="/wiki/File:Ideogram_of_house_mouse_chromosome_9.svg" class="mw-file-description" title="Chromosome 9 (mouse)"><img alt="Chromosome 9 (mouse)" src="//upload.wikimedia.org/wikipedia/commons/thumb/f/f2/Ideogram_of_house_mouse_chromosome_9.svg/300px-Ideogram_of_house_mouse_chromosome_9.svg.png" decoding="async" width="300" height="58" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/f/f2/Ideogram_of_house_mouse_chromosome_9.svg/450px-Ideogram_of_house_mouse_chromosome_9.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/f/f2/Ideogram_of_house_mouse_chromosome_9.svg/600px-Ideogram_of_house_mouse_chromosome_9.svg.png 2x" data-file-width="1200" data-file-height="231" /></a></span><div style="position: absolute; left: 99.065247291989px; 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 HMBS"><img alt="Genomic location for HMBS" 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: 105.1px; top: 19px; padding: 0;"><span typeof="mw:File"><a href="/wiki/File:Red_rectangle_2x18.png" class="mw-file-description" title="Genomic location for HMBS"><img alt="Genomic location for HMBS" 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:#c3fdb8"><a href="/wiki/Locus_(genetics)" title="Locus (genetics)">Band</a></th><td rowspan="2" width="35%" style="background-color:#eee"><span class="plainlinks">9 A5.2|9 24.84 cM</span></td><th scope="row" style="background-color:#c3fdb8">Start</th><td style="background-color:#eee"><span class="plainlinks">44,247,636 <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:#c3fdb8">End</th><td style="background-color:#eee"><span class="plainlinks">44,255,525 <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:#eee"><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:#ddd"><a href="/wiki/Gene_expression" title="Gene expression">RNA expression</a> pattern</th></tr><tr><th scope="row" style="background-color:#c3fdb8"><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/ENSG00000256269">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%;">trabecular bone</li><br /><li style="line-height: 137%;">bone marrow</li><br /><li style="line-height: 137%;">bone marrow cells</li><br /><li style="line-height: 137%;">mucosa of transverse colon</li><br /><li style="line-height: 137%;">gonad</li><br /><li style="line-height: 137%;">muscle of thigh</li><br /><li style="line-height: 137%;">apex of heart</li><br /><li style="line-height: 137%;">gastrocnemius muscle</li><br /><li style="line-height: 137%;">right lobe of liver</li><br /><li style="line-height: 137%;">rectum</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/ENSMUSG00000032126">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%;">fetal liver hematopoietic progenitor cell</li><br /><li style="line-height: 137%;">tibiofemoral joint</li><br /><li style="line-height: 137%;">human fetus</li><br /><li style="line-height: 137%;">spleen</li><br /><li style="line-height: 137%;">body of femur</li><br /><li style="line-height: 137%;">endocardial cushion</li><br /><li style="line-height: 137%;">yolk sac</li><br /><li style="line-height: 137%;">abdominal wall</li><br /><li style="line-height: 137%;">right kidney</li><br /><li style="line-height: 137%;">left lobe of liver</li></ul></div></td></tr></tbody></table></td></tr><tr><td colspan="4" style="text-align:center;background-color:#eee"><span class="plainlinks"><a rel="nofollow" class="external text" href="https://www.bgee.org/gene/ENSG00000256269">More reference expression data</a></span></td></tr></tbody></table></td></tr><tr><th scope="row" style="background-color:#c3fdb8"><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:#eee"><span typeof="mw:File"><a href="/wiki/File:PBB_GE_HMBS_212524_x_at_fs.png" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/b/b1/PBB_GE_HMBS_212524_x_at_fs.png/250px-PBB_GE_HMBS_212524_x_at_fs.png" decoding="async" width="250" height="181" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/b/b1/PBB_GE_HMBS_212524_x_at_fs.png/375px-PBB_GE_HMBS_212524_x_at_fs.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/b/b1/PBB_GE_HMBS_212524_x_at_fs.png/500px-PBB_GE_HMBS_212524_x_at_fs.png 2x" data-file-width="732" data-file-height="530" /></a></span><br /><br /><span typeof="mw:File"><a href="/wiki/File:PBB_GE_HMBS_213344_s_at_fs.png" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/3/3a/PBB_GE_HMBS_213344_s_at_fs.png/250px-PBB_GE_HMBS_213344_s_at_fs.png" decoding="async" width="250" height="181" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/3/3a/PBB_GE_HMBS_213344_s_at_fs.png/375px-PBB_GE_HMBS_213344_s_at_fs.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/3/3a/PBB_GE_HMBS_213344_s_at_fs.png/500px-PBB_GE_HMBS_213344_s_at_fs.png 2x" data-file-width="732" data-file-height="530" /></a></span><br /><br /><span typeof="mw:File"><a href="/wiki/File:PBB_GE_HMBS_203040_s_at_fs.png" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/a/a4/PBB_GE_HMBS_203040_s_at_fs.png/250px-PBB_GE_HMBS_203040_s_at_fs.png" decoding="async" width="250" height="181" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/a/a4/PBB_GE_HMBS_203040_s_at_fs.png/375px-PBB_GE_HMBS_203040_s_at_fs.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/a/a4/PBB_GE_HMBS_203040_s_at_fs.png/500px-PBB_GE_HMBS_203040_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:#eee"><span class="plainlinks"><a rel="nofollow" class="external text" href="http://biogps.org/gene/3145/">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:#eee"><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:#ddd"><a href="/wiki/Gene_ontology" class="mw-redirect" title="Gene ontology">Gene ontology</a></th></tr><tr><td style="background-color:#c3fdb8;font-weight:bold">Molecular function</td><td style="background-color:#eee"><div class="plainlinks"> <ul><li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0016740">transferase activity</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0004418">hydroxymethylbilane synthase activity</a></li></ul> </div></td></tr><tr><td style="background-color:#c3fdb8;font-weight:bold">Cellular component</td><td style="background-color:#eee"><div class="plainlinks"> <ul><li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0005829">cytosol</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0005737">cytoplasm</a></li></ul> </div></td></tr><tr><td style="background-color:#c3fdb8;font-weight:bold">Biological process</td><td style="background-color:#eee"><div class="plainlinks"> <ul><li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0006782">protoporphyrinogen IX biosynthetic process</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0033014">tetrapyrrole biosynthetic process</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0006779">porphyrin-containing compound biosynthetic process</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0018160">peptidyl-pyrromethane cofactor linkage</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0006783">heme biosynthetic process</a></li></ul> </div></td></tr><tr><td colspan="4" style="background-color:#eee;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:#eee"><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:#ddd"><a href="/wiki/Orthologs" class="mw-redirect" title="Orthologs">Orthologs</a></th></tr><tr><th scope="row" style="background-color:#c3fdb8">Species</th><td><b>Human</b></td><td><b>Mouse</b></td></tr><tr><th scope="row" style="background-color:#c3fdb8"><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=3145&rn=1">3145</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=15288&rn=1">15288</a></p></td></tr></tbody></table></td></tr><tr><th scope="row" style="background-color:#c3fdb8"><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=ENSG00000256269;db=core">ENSG00000256269</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=ENSMUSG00000032126;db=core">ENSMUSG00000032126</a></p></td></tr></tbody></table></td></tr><tr><th scope="row" style="background-color:#c3fdb8"><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/P08397">P08397</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/P22907">P22907</a></p></td></tr></tbody></table></td></tr><tr><th scope="row" style="background-color:#c3fdb8">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_000190">NM_000190</a><br /><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_001024382">NM_001024382</a><br /><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_001258208">NM_001258208</a><br /><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_001258209">NM_001258209</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_001110251">NM_001110251</a><br /><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_013551">NM_013551</a></span></p></td></tr></tbody></table></td></tr><tr><th scope="row" style="background-color:#c3fdb8">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_000181">NP_000181</a><br /><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NP_001019553">NP_001019553</a><br /><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NP_001245137">NP_001245137</a><br /><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NP_001245138">NP_001245138</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_001103721">NP_001103721</a><br /><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NP_038579">NP_038579</a></span></p></td></tr></tbody></table></td></tr><tr><th scope="row" style="background-color:#c3fdb8">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=chr11:119084866-119093834">Chr 11: 119.08 – 119.09 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=chr9:44247636-44255525">Chr 9: 44.25 – 44.26 Mb</a></span></td></tr><tr><th scope="row" style="background-color:#c3fdb8"><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:#eee"><a href="/wiki/Wikidata" title="Wikidata">Wikidata</a></td></tr><tr><td colspan="4" style="text-align:center;background-color:#eee"><table style="padding:0;border:none;margin:0;width:100%;text-align:center"><tbody><tr><td colspan="2" style="background-color:#eee;text-align:center"><a href="https://www.wikidata.org/wiki/Q14904818" class="extiw" title="d:Q14904818">View/Edit Human</a></td><td colspan="2" style="background-color:#eee;text-align:center"><a href="https://www.wikidata.org/wiki/Q14904819" class="extiw" title="d:Q14904819">View/Edit Mouse</a></td></tr></tbody></table></td></tr></tbody></table> <p><b>Porphobilinogen deaminase</b> (<b>hydroxymethylbilane synthase</b>, or <b>uroporphyrinogen I synthase</b>) is an <a href="/wiki/Enzyme" title="Enzyme">enzyme</a> (<a href="/wiki/Enzyme_Commission_number" title="Enzyme Commission number">EC</a> <a rel="nofollow" class="external text" href="https://enzyme.expasy.org/EC/2.5.1.61">2.5.1.61</a>) that in humans is encoded by the HMBS <a href="/wiki/Gene" title="Gene">gene</a>. Porphobilinogen deaminase is involved in the third step of the <a href="/wiki/Heme" title="Heme">heme</a> biosynthetic pathway. It catalyzes the head to tail condensation of four <a href="/wiki/Porphobilinogen" title="Porphobilinogen">porphobilinogen</a> molecules into the linear <a href="/wiki/Hydroxymethylbilane" title="Hydroxymethylbilane">hydroxymethylbilane</a> while releasing four <a href="/wiki/Ammonia" title="Ammonia">ammonia</a> molecules: </p> <dl><dd>4 <a href="/wiki/Porphobilinogen" title="Porphobilinogen">porphobilinogen</a> + H<sub>2</sub>O <span class="mwe-math-element"><span class="mwe-math-mathml-inline mwe-math-mathml-a11y" style="display: none;"><math xmlns="http://www.w3.org/1998/Math/MathML" alttext="{\displaystyle \rightleftharpoons }"> <semantics> <mrow class="MJX-TeXAtom-ORD"> <mstyle displaystyle="true" scriptlevel="0"> <mo class="MJX-variant" stretchy="false">⇌</mo> </mstyle> </mrow> <annotation encoding="application/x-tex">{\displaystyle \rightleftharpoons }</annotation> </semantics> </math></span><img src="https://wikimedia.org/api/rest_v1/media/math/render/svg/1c37b981df851b9e54e489e017b1481e37d418f3" class="mwe-math-fallback-image-inline mw-invert skin-invert" aria-hidden="true" style="vertical-align: -0.338ex; width:2.324ex; height:1.843ex;" alt="{\displaystyle \rightleftharpoons }"></span> <a href="/wiki/Hydroxymethylbilane" title="Hydroxymethylbilane">hydroxymethylbilane</a> + 4 NH<sub>3</sub></dd></dl> <meta property="mw:PageProp/toc" /> <div class="mw-heading mw-heading2"><h2 id="Structure_and_function">Structure and function</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Porphobilinogen_deaminase&action=edit&section=1" title="Edit section: Structure and function"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Functionally, porphobilinogen deaminase catalyzes the loss of ammonia from the porphobilinogen monomer (<a href="/wiki/Deamination" title="Deamination">deamination</a>) and its subsequent polymerization to a linear tetrapyrrole, which is released as hydroxymethylbilane: </p> <figure class="mw-halign-center" typeof="mw:File"><a href="/wiki/File:Overall_PBG_Deaminase_Reaction.png" class="mw-file-description" title="Overall reaction of PB deaminase"><img alt="Overall reaction of PB deaminase" src="//upload.wikimedia.org/wikipedia/commons/thumb/4/4a/Overall_PBG_Deaminase_Reaction.png/550px-Overall_PBG_Deaminase_Reaction.png" decoding="async" width="550" height="191" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/4/4a/Overall_PBG_Deaminase_Reaction.png/825px-Overall_PBG_Deaminase_Reaction.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/4/4a/Overall_PBG_Deaminase_Reaction.png/1100px-Overall_PBG_Deaminase_Reaction.png 2x" data-file-width="2130" data-file-height="740" /></a><figcaption>Overall reaction of PB deaminase</figcaption></figure> <p>The structure of 40-42 kDa porphobilinogen deaminase, which is highly conserved amongst organisms, consists of three domains.<sup id="cite_ref-pmid2609111_5-0" class="reference"><a href="#cite_note-pmid2609111-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-pmid1522882_6-0" class="reference"><a href="#cite_note-pmid1522882-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup> Domains 1 and 2 are structurally very similar: each consisting of five beta-sheets and three alpha helices in humans.<sup id="cite_ref-pmid19207107_7-0" class="reference"><a href="#cite_note-pmid19207107-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> Domain 3 is positioned between the other two and has a flattened beta-sheet geometry. A dipyrrole, a <a href="/wiki/Cofactor_(biochemistry)" title="Cofactor (biochemistry)">cofactor</a> of this enzyme consisting of two condensed porphobilinogen molecules, is covalently attached to domain 3 and extends into the active site, the cleft between domains 1 and 2.<sup id="cite_ref-pmid3079571_8-0" class="reference"><a href="#cite_note-pmid3079571-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> Several positively charged <a href="/wiki/Arginine" title="Arginine">arginine</a> residues, positioned to face the active site from domains 1 and 2, have been shown to stabilize the carboxylate functionalities on the incoming porphobilinogen as well as the growing pyrrole chain. These structural features presumably favor the formation of the final hydroxymethylbilane product.<sup id="cite_ref-pmid2025226_9-0" class="reference"><a href="#cite_note-pmid2025226-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup> Porphobilinogen deaminase usually exists in dimer units in the <a href="/wiki/Cytoplasm" title="Cytoplasm">cytoplasm</a> of the cell. </p> <div class="mw-heading mw-heading2"><h2 id="Reaction_mechanism">Reaction mechanism</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Porphobilinogen_deaminase&action=edit&section=2" title="Edit section: Reaction mechanism"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <figure class="mw-halign-center" typeof="mw:File"><a href="/wiki/File:Full_PBG_Deaminase_Mechanism.png" class="mw-file-description" title="Full PBG Deaminase Mechanism"><img alt="Full PBG Deaminase Mechanism" src="//upload.wikimedia.org/wikipedia/commons/thumb/6/68/Full_PBG_Deaminase_Mechanism.png/550px-Full_PBG_Deaminase_Mechanism.png" decoding="async" width="550" height="597" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/6/68/Full_PBG_Deaminase_Mechanism.png/825px-Full_PBG_Deaminase_Mechanism.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/6/68/Full_PBG_Deaminase_Mechanism.png/1100px-Full_PBG_Deaminase_Mechanism.png 2x" data-file-width="2140" data-file-height="2324" /></a><figcaption>Full PBG Deaminase Mechanism</figcaption></figure> <p>The first step is believed to involve an <a href="/wiki/E1_elimination" class="mw-redirect" title="E1 elimination">E1 elimination</a> of ammonia from porphobilinogen, generating a carbocation intermediate (1).<sup id="cite_ref-Pichon_1992_10-0" class="reference"><a href="#cite_note-Pichon_1992-10"><span class="cite-bracket">[</span>10<span class="cite-bracket">]</span></a></sup> This intermediate is then attacked by the dipyrrole cofactor of porphobilinogen deaminase, which after losing a proton yields a trimer covalently bound to the enzyme (2). This intermediate is then open to further reaction with porphobilinogen (1 and 2 repeated three more times). Once a hexamer is formed, hydrolysis allows hydroxymethylbilane to be released, as well as cofactor regeneration (3).<sup id="cite_ref-pmid11152419_11-0" class="reference"><a href="#cite_note-pmid11152419-11"><span class="cite-bracket">[</span>11<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-pmid2664584_12-0" class="reference"><a href="#cite_note-pmid2664584-12"><span class="cite-bracket">[</span>12<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Pathology">Pathology</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Porphobilinogen_deaminase&action=edit&section=3" title="Edit section: Pathology"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The most well-known health issue involving porphobilinogen deaminase is <a href="/wiki/Acute_intermittent_porphyria" title="Acute intermittent porphyria">acute intermittent porphyria</a>, an autosomal dominant genetic disorder where insufficient hydroxymethylbilane is produced, leading to a build-up of porphobilinogen in the cytoplasm. This is caused by a gene mutation that, in 90% of cases, causes decreased amounts of enzyme. However, mutations where less-active enzymes and/or different isoforms have been described.<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-pmid2789372_14-0" class="reference"><a href="#cite_note-pmid2789372-14"><span class="cite-bracket">[</span>14<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-pmid7866402_15-0" class="reference"><a href="#cite_note-pmid7866402-15"><span class="cite-bracket">[</span>15<span class="cite-bracket">]</span></a></sup> At least 115 disease-causing mutations in this gene have been discovered.<sup id="cite_ref-Šimčíková_2019_-_supplementary_table_S7_16-0" class="reference"><a href="#cite_note-Šimčíková_2019_-_supplementary_table_S7-16"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup> </p> <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=Porphobilinogen_deaminase&action=edit&section=4" 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 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(1989). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC286617">"A 5' splice-region G----C mutation in exon 1 of the human beta-globin gene inhibits pre-mRNA splicing: a mechanism for beta+-thalassemia"</a>. <i>Proc. Natl. Acad. Sci. U.S.A</i>. <b>86</b> (3): 1041–5. <a href="/wiki/Bibcode_(identifier)" class="mw-redirect" title="Bibcode (identifier)">Bibcode</a>:<a rel="nofollow" class="external text" href="https://ui.adsabs.harvard.edu/abs/1989PNAS...86.1041V">1989PNAS...86.1041V</a>. <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/10.1073%2Fpnas.86.3.1041">10.1073/pnas.86.3.1041</a></span>. <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/PMC286617">286617</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/2915972">2915972</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Proc.+Natl.+Acad.+Sci.+U.S.A.&rft.atitle=A+5%27+splice-region+G----C+mutation+in+exon+1+of+the+human+beta-globin+gene+inhibits+pre-mRNA+splicing%3A+a+mechanism+for+beta%2B-thalassemia&rft.volume=86&rft.issue=3&rft.pages=1041-5&rft.date=1989&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC286617%23id-name%3DPMC&rft_id=info%3Apmid%2F2915972&rft_id=info%3Adoi%2F10.1073%2Fpnas.86.3.1041&rft_id=info%3Abibcode%2F1989PNAS...86.1041V&rft.aulast=Vidaud&rft.aufirst=M&rft.au=Gattoni%2C+R&rft.au=Stevenin%2C+J&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC286617&rfr_id=info%3Asid%2Fen.wikipedia.org%3APorphobilinogen+deaminase" class="Z3988"></span></li></ul> </div> <div class="mw-heading mw-heading2"><h2 id="External_links">External links</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Porphobilinogen_deaminase&action=edit&section=6" title="Edit section: External links"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/books/NBK1193/">GeneReviews/NCBI/NIH/UW entry on Hydroxymethylbilane Synthase Deficiency</a></li></ul> <figure class="mw-halign-center" typeof="mw:File/Frame"><a href="/wiki/File:Heme_synthesis.png" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/a/a9/Heme_synthesis.png" decoding="async" width="550" height="278" class="mw-file-element" data-file-width="550" data-file-height="278" /></a><figcaption>Heme synthesis—note that some reactions occur in the <a href="/wiki/Cytoplasm" title="Cytoplasm">cytoplasm</a> and some in the <a href="/wiki/Mitochondrion" title="Mitochondrion">mitochondrion</a> (yellow)</figcaption></figure> <ul><li>Overview of all the structural information available in the <a href="/wiki/Protein_Data_Bank" title="Protein Data Bank">PDB</a> for <a href="/wiki/UniProt" title="UniProt">UniProt</a>: <i><a rel="nofollow" class="external text" href="https://www.ebi.ac.uk/pdbe/pdbe-kb/proteins/P08397">P08397</a></i> (Porphobilinogen deaminase) at the <a href="/wiki/PDBe-KB" title="PDBe-KB">PDBe-KB</a>.</li></ul> <div class="navbox-styles"><style data-mw-deduplicate="TemplateStyles:r1129693374">.mw-parser-output .hlist dl,.mw-parser-output .hlist ol,.mw-parser-output .hlist ul{margin:0;padding:0}.mw-parser-output .hlist dd,.mw-parser-output .hlist dt,.mw-parser-output .hlist li{margin:0;display:inline}.mw-parser-output .hlist.inline,.mw-parser-output .hlist.inline dl,.mw-parser-output .hlist.inline ol,.mw-parser-output .hlist.inline ul,.mw-parser-output .hlist dl dl,.mw-parser-output .hlist dl ol,.mw-parser-output .hlist dl ul,.mw-parser-output .hlist ol dl,.mw-parser-output .hlist ol ol,.mw-parser-output .hlist ol ul,.mw-parser-output .hlist ul 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aria-labelledby="Enzymes_involved_in_the_metabolism_of_heme_and_porphyrin" 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"><style data-mw-deduplicate="TemplateStyles:r1239400231">.mw-parser-output .navbar{display:inline;font-size:88%;font-weight:normal}.mw-parser-output .navbar-collapse{float:left;text-align:left}.mw-parser-output .navbar-boxtext{word-spacing:0}.mw-parser-output .navbar ul{display:inline-block;white-space:nowrap;line-height:inherit}.mw-parser-output .navbar-brackets::before{margin-right:-0.125em;content:"[ "}.mw-parser-output .navbar-brackets::after{margin-left:-0.125em;content:" ]"}.mw-parser-output .navbar li{word-spacing:-0.125em}.mw-parser-output .navbar a>span,.mw-parser-output .navbar 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class="nv-edit"><a href="/wiki/Special:EditPage/Template:Porphyrin_metabolism_enzymes" title="Special:EditPage/Template:Porphyrin metabolism enzymes"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Enzymes_involved_in_the_metabolism_of_heme_and_porphyrin" style="font-size:114%;margin:0 4em"><a href="/wiki/Enzyme" title="Enzyme">Enzymes</a> involved in the <a href="/wiki/Protein_metabolism" title="Protein metabolism">metabolism</a> of <a href="/wiki/Heme" title="Heme">heme</a> and <a href="/wiki/Porphyrin" title="Porphyrin">porphyrin</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Porphyrin#Biosynthesis" title="Porphyrin">Porphyrin biosynthesis</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%"><span class="nobold"><i>early mitochondrial:</i></span></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/Aminolevulinic_acid_synthase" title="Aminolevulinic acid synthase">Aminolevulinic acid synthase</a> <ul><li><a href="/wiki/ALAS1" title="ALAS1">ALAS1</a></li> <li><a href="/wiki/ALAS2" title="ALAS2">ALAS2</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><span class="nobold"><i>cytosolic:</i></span></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/Porphobilinogen_synthase" class="mw-redirect" title="Porphobilinogen synthase">Porphobilinogen synthase</a></li> <li><a class="mw-selflink selflink">Porphobilinogen deaminase</a></li> <li><a href="/wiki/Uroporphyrinogen_III_synthase" title="Uroporphyrinogen III synthase">Uroporphyrinogen III synthase</a></li> <li><a href="/wiki/Uroporphyrinogen_III_decarboxylase" title="Uroporphyrinogen III decarboxylase">Uroporphyrinogen III decarboxylase</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><span class="nobold"><i>late mitochondrial:</i></span></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/Coproporphyrinogen_III_oxidase" title="Coproporphyrinogen III oxidase">Coproporphyrinogen III oxidase</a></li> <li><a href="/wiki/Protoporphyrinogen_oxidase" title="Protoporphyrinogen oxidase">Protoporphyrinogen oxidase</a></li> <li><a href="/wiki/Ferrochelatase" title="Ferrochelatase">Ferrochelatase</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Heme#Degradation" title="Heme">Heme degradation</a><br />to <a href="/wiki/Bile" title="Bile">bile</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%"><span class="nobold"><i>spleen:</i></span></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/Heme_oxygenase" title="Heme oxygenase">Heme oxygenase</a></li> <li><a href="/wiki/Biliverdin_reductase" title="Biliverdin reductase">Biliverdin reductase</a><br /></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><span class="nobold"><i>liver:</i></span></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Glucuronosyltransferase" title="Glucuronosyltransferase">glucuronosyltransferase</a></i> <ul><li><a href="/wiki/UDP_glucuronosyltransferase_1_family,_polypeptide_A1" title="UDP glucuronosyltransferase 1 family, polypeptide A1">UGT1A1</a></li></ul></li></ul> </div></td></tr></tbody></table><div></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="Transferases:_alkyl_and_aryl_(EC_2.5)" style="padding:3px"><table class="nowraplinks 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 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href="/wiki/List_of_EC_numbers_(EC_2)#EC_2.5:_Transferring_Alkyl_or_Aryl_Groups.2C_Other_than_Methyl_Groups" title="List of EC numbers (EC 2)">2.5.1</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Dimethylallyltranstransferase" title="Dimethylallyltranstransferase">Dimethylallyltranstransferase</a></li> <li><a href="/wiki/Thiaminase" title="Thiaminase">Thiaminase I</a></li> <li><a href="/wiki/Methionine_adenosyltransferase" class="mw-redirect" title="Methionine adenosyltransferase">Methionine adenosyltransferase</a></li> <li><a href="/wiki/Riboflavin_synthase" title="Riboflavin synthase">Riboflavin synthase</a></li> <li><a href="/wiki/Dihydropteroate_synthase" title="Dihydropteroate synthase">Dihydropteroate synthase</a></li> <li><a href="/wiki/Spermidine_synthase" title="Spermidine synthase">Spermidine synthase</a></li> <li><a href="/wiki/Glutathione_S-transferase" title="Glutathione S-transferase">Glutathione S-transferase</a></li> <li><a href="/wiki/Farnesyl-diphosphate_farnesyltransferase" title="Farnesyl-diphosphate farnesyltransferase">Farnesyl-diphosphate farnesyltransferase</a></li> <li><a href="/wiki/Spermine_synthase" title="Spermine synthase">Spermine synthase</a></li> <li><a href="/wiki/Alkylglycerone_phosphate_synthase" title="Alkylglycerone phosphate synthase">Alkylglycerone phosphate synthase</a></li> <li><a href="/wiki/Farnesyltransferase" title="Farnesyltransferase">Farnesyltransferase</a></li> <li><a href="/wiki/Geranylgeranyltransferase_type_1" title="Geranylgeranyltransferase type 1">Geranylgeranyltransferase type 1</a></li> <li><a class="mw-selflink selflink">Porphobilinogen deaminase</a></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="Enzymes" style="padding:3px"><table class="nowraplinks 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:Enzymes" title="Template:Enzymes"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Enzymes" title="Template talk:Enzymes"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Enzymes" title="Special:EditPage/Template:Enzymes"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Enzymes" style="font-size:114%;margin:0 4em"><a href="/wiki/Enzyme" title="Enzyme">Enzymes</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%">Activity</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Active_site" title="Active site">Active site</a></li> <li><a href="/wiki/Binding_site" title="Binding site">Binding site</a></li> <li><a href="/wiki/Catalytic_triad" title="Catalytic triad">Catalytic triad</a></li> <li><a href="/wiki/Oxyanion_hole" title="Oxyanion hole">Oxyanion hole</a></li> <li><a href="/wiki/Enzyme_promiscuity" title="Enzyme promiscuity">Enzyme promiscuity</a></li> <li><a href="/wiki/Diffusion-limited_enzyme" title="Diffusion-limited enzyme">Diffusion-limited enzyme</a></li> <li><a href="/wiki/Cofactor_(biochemistry)" title="Cofactor (biochemistry)">Cofactor</a></li> <li><a href="/wiki/Enzyme_catalysis" title="Enzyme catalysis">Enzyme catalysis</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Regulation</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Allosteric_regulation" title="Allosteric regulation">Allosteric regulation</a></li> <li><a href="/wiki/Cooperativity" title="Cooperativity">Cooperativity</a></li> <li><a href="/wiki/Enzyme_inhibitor" title="Enzyme inhibitor">Enzyme inhibitor</a></li> <li><a href="/wiki/Enzyme_activator" title="Enzyme activator">Enzyme activator</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Classification</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Enzyme_Commission_number" title="Enzyme Commission number">EC number</a></li> <li><a href="/wiki/Protein_superfamily" title="Protein superfamily">Enzyme superfamily</a></li> <li><a href="/wiki/Protein_family" title="Protein family">Enzyme family</a></li> <li><a href="/wiki/List_of_enzymes" title="List of enzymes">List of enzymes</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Kinetics</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Enzyme_kinetics" title="Enzyme kinetics">Enzyme kinetics</a></li> <li><a href="/wiki/Eadie%E2%80%93Hofstee_diagram" title="Eadie–Hofstee diagram">Eadie–Hofstee diagram</a></li> <li><a href="/wiki/Hanes%E2%80%93Woolf_plot" title="Hanes–Woolf plot">Hanes–Woolf plot</a></li> <li><a href="/wiki/Lineweaver%E2%80%93Burk_plot" title="Lineweaver–Burk plot">Lineweaver–Burk plot</a></li> <li><a href="/wiki/Michaelis%E2%80%93Menten_kinetics" title="Michaelis–Menten kinetics">Michaelis–Menten kinetics</a></li></ul> </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 hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><b>EC1 <a href="/wiki/Oxidoreductase" title="Oxidoreductase">Oxidoreductases</a></b> (<a href="/wiki/List_of_EC_numbers_(EC_1)" title="List of EC numbers (EC 1)">list</a>)</li> <li><b>EC2 <a href="/wiki/Transferase" title="Transferase">Transferases</a></b> (<a href="/wiki/List_of_EC_numbers_(EC_2)" title="List of EC numbers (EC 2)">list</a>)</li> <li><b>EC3 <a href="/wiki/Hydrolase" title="Hydrolase">Hydrolases</a></b> (<a href="/wiki/List_of_EC_numbers_(EC_3)" title="List of EC numbers (EC 3)">list</a>)</li> <li><b>EC4 <a href="/wiki/Lyase" title="Lyase">Lyases</a></b> (<a href="/wiki/List_of_EC_numbers_(EC_4)" title="List of EC numbers (EC 4)">list</a>)</li> <li><b>EC5 <a href="/wiki/Isomerase" title="Isomerase">Isomerases</a></b> (<a href="/wiki/List_of_EC_numbers_(EC_5)" title="List of EC numbers (EC 5)">list</a>)</li> 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