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vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Function_2"> <div class="vector-toc-text"> <span class="vector-toc-numb">4</span> <span>Function</span> </div> </a> <ul id="toc-Function_2-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Type_X_Charcot-Marie-Tooth_disease" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Type_X_Charcot-Marie-Tooth_disease"> <div class="vector-toc-text"> <span class="vector-toc-numb">5</span> <span>Type X Charcot-Marie-Tooth disease</span> </div> </a> <button aria-controls="toc-Type_X_Charcot-Marie-Tooth_disease-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 Type X Charcot-Marie-Tooth disease subsection</span> </button> <ul id="toc-Type_X_Charcot-Marie-Tooth_disease-sublist" class="vector-toc-list"> <li id="toc-Diagnosis/testing" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Diagnosis/testing"> <div class="vector-toc-text"> <span class="vector-toc-numb">5.1</span> <span>Diagnosis/testing</span> </div> </a> <ul id="toc-Diagnosis/testing-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Management" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Management"> <div class="vector-toc-text"> <span class="vector-toc-numb">5.2</span> <span>Management</span> </div> </a> <ul id="toc-Management-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Genetic_counseling" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Genetic_counseling"> <div class="vector-toc-text"> <span class="vector-toc-numb">5.3</span> <span>Genetic counseling</span> </div> </a> <ul id="toc-Genetic_counseling-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" href="#See_also"> <div class="vector-toc-text"> <span class="vector-toc-numb">6</span> <span>See also</span> </div> </a> <ul id="toc-See_also-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Notes" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Notes"> <div class="vector-toc-text"> <span class="vector-toc-numb">7</span> <span>Notes</span> </div> </a> <ul id="toc-Notes-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-References" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#References"> <div class="vector-toc-text"> <span class="vector-toc-numb">8</span> <span>References</span> </div> </a> <ul id="toc-References-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Further_reading" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Further_reading"> <div class="vector-toc-text"> <span class="vector-toc-numb">9</span> <span>Further reading</span> </div> </a> <ul id="toc-Further_reading-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-External_links" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#External_links"> <div class="vector-toc-text"> <span class="vector-toc-numb">10</span> <span>External links</span> </div> </a> <ul id="toc-External_links-sublist" class="vector-toc-list"> </ul> </li> </ul> </div> </div> </nav> </div> </div> <div class="mw-content-container"> <main id="content" class="mw-body"> <header class="mw-body-header vector-page-titlebar"> <nav aria-label="Contents" class="vector-toc-landmark"> <div id="vector-page-titlebar-toc" class="vector-dropdown vector-page-titlebar-toc vector-button-flush-left" title="Table of Contents" > <input type="checkbox" id="vector-page-titlebar-toc-checkbox" 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data-mw-deduplicate="TemplateStyles:r1236090951">.mw-parser-output .hatnote{font-style:italic}.mw-parser-output div.hatnote{padding-left:1.6em;margin-bottom:0.5em}.mw-parser-output .hatnote i{font-style:normal}.mw-parser-output .hatnote+link+.hatnote{margin-top:-0.5em}@media print{body.ns-0 .mw-parser-output .hatnote{display:none!important}}</style><div role="note" class="hatnote navigation-not-searchable">"CMT1X" redirects here. For more information about the broader/more general nerve system disorder of which GJB1 disease is a specific subtype, see <a href="/wiki/Charcot%E2%80%93Marie%E2%80%93Tooth_disease_classifications" title="Charcot–Marie–Tooth disease classifications">Charcot–Marie–Tooth disease classifications</a>.</div> <table class="infobox" style="width:26.4em"><tbody><tr><th colspan="4" style="text-align:center;font-size:125%;font-weight:bold">GJB1</th></tr><tr><td colspan="4" style="text-align:center"></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=P28230%20or%20P08034">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:P28230,P08034">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/1TXH">1TXH</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/4283">GJB1</a></span>, CMTX, CMTX1, CX32, gap junction protein beta 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/304040">304040</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:95719">95719</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=137">137</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=GJB1">GJB1</a>; <a href="/wiki/Orthologous_MAtrix" title="Orthologous MAtrix">OMA</a>:<a rel="nofollow" class="external text" href="https://omabrowser.org/oma/vps/ENSG00000169562">GJB1 - 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_X.svg" class="mw-file-description" title="X chromosome (human)"><img alt="X chromosome (human)" src="//upload.wikimedia.org/wikipedia/commons/thumb/1/18/Ideogram_human_chromosome_X.svg/300px-Ideogram_human_chromosome_X.svg.png" decoding="async" width="300" height="120" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/1/18/Ideogram_human_chromosome_X.svg/450px-Ideogram_human_chromosome_X.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/1/18/Ideogram_human_chromosome_X.svg/600px-Ideogram_human_chromosome_X.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/X_chromosome_(human)" class="mw-redirect" title="X chromosome (human)">X chromosome (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_X_ideogram.svg" class="mw-file-description" title="X chromosome (human)"><img alt="X chromosome (human)" src="//upload.wikimedia.org/wikipedia/commons/thumb/e/e0/Human_chromosome_X_ideogram.svg/300px-Human_chromosome_X_ideogram.svg.png" decoding="async" width="300" height="58" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/e/e0/Human_chromosome_X_ideogram.svg/450px-Human_chromosome_X_ideogram.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/e/e0/Human_chromosome_X_ideogram.svg/600px-Human_chromosome_X_ideogram.svg.png 2x" data-file-width="1125" data-file-height="216" /></a></span><div style="position: absolute; left: 128.84634908418px; 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 GJB1"><img alt="Genomic location for GJB1" 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: 134.8px; top: 19px; padding: 0;"><span typeof="mw:File"><a href="/wiki/File:Red_rectangle_2x18.png" class="mw-file-description" title="Genomic location for GJB1"><img alt="Genomic location for GJB1" 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">Xq13.1</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">71,212,811 <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">71,225,516 <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_X.svg" class="mw-file-description" title="X chromosome (mouse)"><img alt="X chromosome (mouse)" src="//upload.wikimedia.org/wikipedia/commons/thumb/5/59/Ideogram_house_mouse_chromosome_X.svg/260px-Ideogram_house_mouse_chromosome_X.svg.png" decoding="async" width="260" height="111" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/5/59/Ideogram_house_mouse_chromosome_X.svg/390px-Ideogram_house_mouse_chromosome_X.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/5/59/Ideogram_house_mouse_chromosome_X.svg/520px-Ideogram_house_mouse_chromosome_X.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">X chromosome (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_X.svg" class="mw-file-description" title="X chromosome (mouse)"><img alt="X chromosome (mouse)" src="//upload.wikimedia.org/wikipedia/commons/thumb/d/da/Ideogram_of_house_mouse_chromosome_X.svg/300px-Ideogram_of_house_mouse_chromosome_X.svg.png" decoding="async" width="300" height="58" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/d/da/Ideogram_of_house_mouse_chromosome_X.svg/450px-Ideogram_of_house_mouse_chromosome_X.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/d/da/Ideogram_of_house_mouse_chromosome_X.svg/600px-Ideogram_of_house_mouse_chromosome_X.svg.png 2x" data-file-width="1200" data-file-height="231" /></a></span><div style="position: absolute; left: 167.3064690714px; 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 GJB1"><img alt="Genomic location for GJB1" 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: 173.3px; top: 19px; padding: 0;"><span typeof="mw:File"><a href="/wiki/File:Red_rectangle_2x18.png" class="mw-file-description" title="Genomic location for GJB1"><img alt="Genomic location for GJB1" 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">X D|X 44.06 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">100,419,984 <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">100,429,235 <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/ENSG00000169562">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%;">right lobe of liver</li><br /><li style="line-height: 137%;">C1 segment</li><br /><li style="line-height: 137%;">body of pancreas</li><br /><li style="line-height: 137%;">mucosa of transverse colon</li><br /><li style="line-height: 137%;">inferior ganglion of vagus nerve</li><br /><li style="line-height: 137%;">gallbladder</li><br /><li style="line-height: 137%;">olfactory bulb</li><br /><li style="line-height: 137%;">subthalamic nucleus</li><br /><li style="line-height: 137%;">substantia nigra</li><br /><li style="line-height: 137%;">inferior olivary nucleus</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/ENSMUSG00000047797">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%;">left lobe of liver</li><br /><li style="line-height: 137%;">pyloric antrum</li><br /><li style="line-height: 137%;">parotid gland</li><br /><li style="line-height: 137%;">gastric mucosa</li><br /><li style="line-height: 137%;">epithelium of stomach</li><br /><li style="line-height: 137%;">lumbar subsegment of spinal cord</li><br /><li style="line-height: 137%;">mucous cell of stomach</li><br /><li style="line-height: 137%;">yolk sac</li><br /><li style="line-height: 137%;">lacrimal gland</li><br /><li style="line-height: 137%;">right kidney</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/ENSG00000169562">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_GJB1_204973_at_fs.png" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/f/fe/PBB_GE_GJB1_204973_at_fs.png/250px-PBB_GE_GJB1_204973_at_fs.png" decoding="async" width="250" height="181" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/f/fe/PBB_GE_GJB1_204973_at_fs.png/375px-PBB_GE_GJB1_204973_at_fs.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/f/fe/PBB_GE_GJB1_204973_at_fs.png/500px-PBB_GE_GJB1_204973_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/2705/">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:0042803">protein homodimerization activity</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0005243">gap junction channel activity</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:0005737">cytoplasm</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0016021">integral component of membrane</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0005921">gap junction</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0030054">cell junction</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0005886">plasma membrane</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0005922">connexin complex</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0005789">endoplasmic reticulum membrane</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0005783">endoplasmic reticulum</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0016020">membrane</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0016328">lateral plasma membrane</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:0015868">purine ribonucleotide transport</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0016264">gap junction assembly</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0007267">cell-cell signaling</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0007154">cell communication</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0051259">protein complex oligomerization</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0055085">transmembrane transport</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0007399">nervous system development</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:1905867">epididymis development</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=2705&rn=1">2705</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=14618&rn=1">14618</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=ENSG00000169562;db=core">ENSG00000169562</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=ENSMUSG00000047797;db=core">ENSMUSG00000047797</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/P08034">P08034</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/P28230">P28230</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_000166">NM_000166</a><br /><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_001097642">NM_001097642</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_008124">NM_008124</a><br /><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_001302496">NM_001302496</a><br /><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_001302497">NM_001302497</a><br /><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_001302498">NM_001302498</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_000157">NP_000157</a><br /><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NP_001091111">NP_001091111</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_001289425">NP_001289425</a><br /><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NP_001289426">NP_001289426</a><br /><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NP_001289427">NP_001289427</a><br /><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NP_032150">NP_032150</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=chrX:71212811-71225516">Chr X: 71.21 – 71.23 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=chrX:100419984-100429235">Chr X: 100.42 – 100.43 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/Q18025986" class="extiw" title="d:Q18025986">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/Q18250835" class="extiw" title="d:Q18250835">View/Edit Mouse</a></td></tr></tbody></table></td></tr></tbody></table> <p><b>Gap junction beta-1 protein</b> (GJB1), also known as <b>connexin 32</b> (Cx32), is a <a href="/wiki/Transmembrane_protein" title="Transmembrane protein">transmembrane protein</a> that in humans is encoded by the <i>GJB1</i> <a href="/wiki/Gene" title="Gene">gene</a>.<sup id="cite_ref-5" class="reference"><a href="#cite_note-5"><span class="cite-bracket">[</span>a<span class="cite-bracket">]</span></a></sup> <sup id="cite_ref-Corcos_1992_6-0" class="reference"><a href="#cite_note-Corcos_1992-6"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup> Gap junction beta-1 protein is a member of the <a href="/wiki/Gap_junction" title="Gap junction">gap junction</a> <a href="/wiki/Connexin" title="Connexin">connexin</a> family of proteins that regulates and controls the transfer of communication signals across <a href="/wiki/Cell_membranes" class="mw-redirect" title="Cell membranes">cell membranes</a>, primarily in the <a href="/wiki/Liver" title="Liver">liver</a> and <a href="/wiki/Peripheral_nervous_system" title="Peripheral nervous system">peripheral nervous system</a>.<sup id="cite_ref-OMIM_304040_7-0" class="reference"><a href="#cite_note-OMIM_304040-7"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup> However, the protein is expressed in multiple organs, including in oligodendrocytes in the central nervous system.<sup id="cite_ref-8" class="reference"><a href="#cite_note-8"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> </p><p>Mutations of the <i>GJB1</i> gene affecting the signalling of and trafficking through gap junctions, resulting in an inherited peripheral neuropathy called X-linked <a href="/wiki/Charcot-Marie-Tooth_Disease" class="mw-redirect" title="Charcot-Marie-Tooth Disease">Charcot-Marie-Tooth Disease</a>. Complications include the <a href="/wiki/Demyelination" class="mw-redirect" title="Demyelination">demyelination</a> of <a href="/wiki/Oligodendrocytes" class="mw-redirect" title="Oligodendrocytes">oligodendrocytes</a> and <a href="/wiki/Schwann_cells" class="mw-redirect" title="Schwann cells">Schwann cells</a>, causing delayed transmission rates of nerve communication in the peripheral nervous system, due to irregularities in the normal function of the cells. This condition leads to a number of symptoms, most commonly muscle weakness and sensory problems in the outer extremities of the limbs. As a result, <a href="/wiki/Muscle_atrophy" title="Muscle atrophy">muscle atrophy</a> and soft tissue injuries due to delayed nerve transmission can occur. In males, due to the hemizygousity of the X-chromosome, the symptoms and issues surrounding X-linked Charcot-Marie-Tooth disease are more prevalent.<sup id="cite_ref-Gonzaga-Jauregui_2010_9-0" class="reference"><a href="#cite_note-Gonzaga-Jauregui_2010-9"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> </p> <meta property="mw:PageProp/toc" /> <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=GJB1&action=edit&section=1" title="Edit section: Function"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Connexins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells.<sup id="cite_ref-Bergoffen_1993_10-0" class="reference"><a href="#cite_note-Bergoffen_1993-10"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup> For a general discussion of connexin proteins, see <a href="/wiki/GJB2" title="GJB2">GJB2</a>.<sup id="cite_ref-11" class="reference"><a href="#cite_note-11"><span class="cite-bracket">[</span>10<span class="cite-bracket">]</span></a></sup> In Schwann cells, GJB1 also forms channels that facilitate transfers between layers of the myelin. <sup id="cite_ref-12" class="reference"><a href="#cite_note-12"><span class="cite-bracket">[</span>11<span class="cite-bracket">]</span></a></sup> </p><p>In melanocytic cells <i>GJB1</i> gene expression may be regulated by <a href="/wiki/Microphthalmia-associated_transcription_factor" title="Microphthalmia-associated transcription factor">MITF</a>.<sup id="cite_ref-pmid19067971_13-0" class="reference"><a href="#cite_note-pmid19067971-13"><span class="cite-bracket">[</span>12<span class="cite-bracket">]</span></a></sup> </p> <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=GJB1&action=edit&section=2" title="Edit section: Gene"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The gene that encodes the human GJB1 protein is found on the <a href="/wiki/X_chromosome" title="X chromosome">X chromosome</a>, on the long arm at position q13.1, in interval 8, from base pair 71,215,212 to base pair 71,225,215.<sup id="cite_ref-Corcos_1992_6-1" class="reference"><a href="#cite_note-Corcos_1992-6"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Bergoffen_1993_10-1" class="reference"><a href="#cite_note-Bergoffen_1993-10"><span class="cite-bracket">[</span>9<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=GJB1&action=edit&section=3" title="Edit section: Mutations"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Approximately four hundred <a href="/wiki/Mutation" title="Mutation">mutations</a> within the <i>GJB1</i> gene have been identified as causing type X Charcot-Marie-Tooth disease, and it is the only gene known to be associated with this disease.<sup id="cite_ref-Abrams_2020_14-0" class="reference"><a href="#cite_note-Abrams_2020-14"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-WikiGenes_15-0" class="reference"><a href="#cite_note-WikiGenes-15"><span class="cite-bracket">[</span>14<span class="cite-bracket">]</span></a></sup> The majority of these mutations only change a single amino acid within the protein chain, which result in a different protein being produced. Mutations within the <i>GJB1</i> gene consist of novel, <a href="/wiki/Missense" class="mw-redirect" title="Missense">missense</a>, double-missense, amino acid deletion, <a href="/wiki/Nonsense_mutation" title="Nonsense mutation">nonsense</a>, <a href="/wiki/Frameshift" class="mw-redirect" title="Frameshift">frameshift</a>, and in-frame deletions/insertions.<sup id="cite_ref-OMIM_304040_7-1" class="reference"><a href="#cite_note-OMIM_304040-7"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Gonzaga-Jauregui_2010_9-1" class="reference"><a href="#cite_note-Gonzaga-Jauregui_2010-9"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Bergoffen_1993_10-2" class="reference"><a href="#cite_note-Bergoffen_1993-10"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Ressot_1996_16-0" class="reference"><a href="#cite_note-Ressot_1996-16"><span class="cite-bracket">[</span>15<span class="cite-bracket">]</span></a></sup> These mutations most commonly result in proteins that work incorrectly, less effectively, degrade faster, are not present in adequate numbers or may not function at all. </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=GJB1&action=edit&section=4" title="Edit section: Structure"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The <i>GJB1</i> gene is approximately 10kb in length, with one coding <a href="/wiki/Exon" title="Exon">exon</a> and three non-coding exons. GJB1 is a <a href="/wiki/Gap_junction" title="Gap junction">gap junction</a>, beta 1 protein also identified as connexin 32, with 238 <a href="/wiki/Amino_acids" class="mw-redirect" title="Amino acids">amino acids</a>.<sup id="cite_ref-Gonzaga-Jauregui_2010_9-2" class="reference"><a href="#cite_note-Gonzaga-Jauregui_2010-9"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> This protein contains four transmembrane domains, which when assembled form gap junctions. Each of these gap junctions consist of two hemichannels (connexions), which in turn consist of six <a href="/wiki/Connexin" title="Connexin">connexin</a> molecules (gap junction trans-membrane proteins).,<sup id="cite_ref-Gonzaga-Jauregui_2010_9-3" class="reference"><a href="#cite_note-Gonzaga-Jauregui_2010-9"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Bergoffen_1993_10-3" class="reference"><a href="#cite_note-Bergoffen_1993-10"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup> A picture of a connexin and its connexons, showing the two hemichannels, is available here: <a class="external free" href="https://commons.wikimedia.org/wiki/File:Connexon_and_connexin_structure.svg">https://commons.wikimedia.org/wiki/File:Connexon_and_connexin_structure.svg</a>. This enables communication between <a href="/wiki/Schwann_cell" title="Schwann cell">Schwann cell</a> <a href="/wiki/Cell_nucleus" title="Cell nucleus">nuclei</a> and <a href="/wiki/Axons" class="mw-redirect" title="Axons">axons</a> through a radial diffusion pathway.<sup id="cite_ref-Gonzaga-Jauregui_2010_9-4" class="reference"><a href="#cite_note-Gonzaga-Jauregui_2010-9"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> As noted above, channels also form between layers of myelin. <sup id="cite_ref-17" class="reference"><a href="#cite_note-17"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Function_2">Function</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=GJB1&action=edit&section=5" title="Edit section: Function"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p><i>GJB1</i> functions as a radial diffusion pathway, allowing the communication and diffusion of nutrients, ions and small molecules between cells, and between layers of myelin.<sup id="cite_ref-Gonzaga-Jauregui_2010_9-5" class="reference"><a href="#cite_note-Gonzaga-Jauregui_2010-9"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> The GJB1 protein is found in a number of organs, including the <a href="/wiki/Liver" title="Liver">liver</a>, <a href="/wiki/Kidney" title="Kidney">kidney</a>, <a href="/wiki/Pancreas" title="Pancreas">pancreas</a> and <a href="/wiki/Nervous_system" title="Nervous system">nervous system</a>.<sup id="cite_ref-OMIM_304040_7-2" class="reference"><a href="#cite_note-OMIM_304040-7"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Bergoffen_1993_10-4" class="reference"><a href="#cite_note-Bergoffen_1993-10"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup> In normal circumstances this protein is located in the cell <a href="/wiki/Membrane" title="Membrane">membrane</a> of <a href="/wiki/Schwann_cells" class="mw-redirect" title="Schwann cells">Schwann cells</a> and <a href="/wiki/Oligodendrocytes" class="mw-redirect" title="Oligodendrocytes">oligodendrocytes</a>, specialised cells of the nervous system.<sup id="cite_ref-Bergoffen_1993_10-5" class="reference"><a href="#cite_note-Bergoffen_1993-10"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Genetics_Home_Reference_18-0" class="reference"><a href="#cite_note-Genetics_Home_Reference-18"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup> These cells typically encapsulate nerves and are involved in the assembly and preservation of <a href="/wiki/Myelin" title="Myelin">myelin</a>, which serves to ensure reliable and rapid transmission of nerve signals.<sup id="cite_ref-Bergoffen_1993_10-6" class="reference"><a href="#cite_note-Bergoffen_1993-10"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Genetics_Home_Reference_18-1" class="reference"><a href="#cite_note-Genetics_Home_Reference-18"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup> Typically the GJB1 protein forms channels between cells as well as through myelin to the internal Schwann cell or oligodendrocyte, allowing effective transportation and communication.<sup id="cite_ref-Bergoffen_1993_10-7" class="reference"><a href="#cite_note-Bergoffen_1993-10"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Genetics_Home_Reference_18-2" class="reference"><a href="#cite_note-Genetics_Home_Reference-18"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Type_X_Charcot-Marie-Tooth_disease">Type X Charcot-Marie-Tooth disease</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=GJB1&action=edit&section=6" title="Edit section: Type X Charcot-Marie-Tooth disease"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Mutations in the <i>GJB1</i> gene can lead to a variety of changes in the Connexin 32 protein or its expression, as compared to the wild type gene. Pathogenic mutations in the gene affect signalling and trafficking of small molecules through gap junctions, resulting in disease - most notably an inherited peripheral neuropathy known as Charcot-Marie-Tooth disease, also often referred to as CMT. Despite the name, CMT does not affect the teeth; the word "tooth" refers to the name of one of the doctors who were important to its discovery. Because <i>GJB1</i> is located on the X chromosome, <i>GJB1</i> disease is a type of "X-linked" CMT. Multiple X-linked CMTs have now been identified, and <i>GJB1</i> disease is referred to as CMT1X or CMTX1. <sup id="cite_ref-19" class="reference"><a href="#cite_note-19"><span class="cite-bracket">[</span>18<span class="cite-bracket">]</span></a></sup> The disease process involves <a href="/wiki/Demyelination" class="mw-redirect" title="Demyelination">demyelination</a> of nerves due to impact on the <a href="/wiki/Schwann_cells" class="mw-redirect" title="Schwann cells">Schwann cells</a>, causing delayed transmission rates of nerve communication in the peripheral nervous system, due to irregularities in the normal function of the cells. In addition, impact on axons has been noted, While it was originally believed that axon impact was secondary to demyelination, findings in mice suggest that axon slowing may occur independent from and precede demyelination in CMT1X, due to disturbed signalling between axons and glia as well as disturbances in glial support to axons.<sup id="cite_ref-20" class="reference"><a href="#cite_note-20"><span class="cite-bracket">[</span>19<span class="cite-bracket">]</span></a></sup> </p><p>Unlike many other types of CMT, CMT1X is known to cause effects in the central nervous system ("CNS") as well as the peripheral nervous system.<sup id="cite_ref-Abrams_2020_14-1" class="reference"><a href="#cite_note-Abrams_2020-14"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup> However, it is believed that whether or not an individual experiences CNS effects may depend upon the specific mutation involved, and the more precise shape and function of the mutant protein in question, as some mutant GJB1 proteins have much more functionality than others.<sup id="cite_ref-21" class="reference"><a href="#cite_note-21"><span class="cite-bracket">[</span>20<span class="cite-bracket">]</span></a></sup> </p><p>This condition leads to a number of symptoms, most commonly muscle weakness and sensory problems in the outer extremities of the limbs. As a result, <a href="/wiki/Muscle_atrophy" title="Muscle atrophy">muscle atrophy</a> and soft tissue injuries due to delayed nerve transmission can occur. In males, due to the hemizygosity of the X-chromosome, the symptoms and issues surrounding X-linked <a href="/wiki/Charcot-Marie-Tooth_disease" class="mw-redirect" title="Charcot-Marie-Tooth disease">Charcot-Marie-Tooth disease</a> are more prevalent.<sup id="cite_ref-Gonzaga-Jauregui_2010_9-6" class="reference"><a href="#cite_note-Gonzaga-Jauregui_2010-9"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> </p><p>Approximately four hundred mutations of the <i>GJB1</i> gene have been identified in people with X-linked Charcot-Marie-Tooth disease (CMTX).<sup id="cite_ref-Genetics_Home_Reference_18-3" class="reference"><a href="#cite_note-Genetics_Home_Reference-18"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup> CMTX is predominantly classified with symptoms related to muscle weakness and sensory problems, especially in the outer extremities of the limbs.<sup id="cite_ref-Bergoffen_1993_10-8" class="reference"><a href="#cite_note-Bergoffen_1993-10"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup> CMTX is the second most common type of CMT (about 10% of all patients) and is transmitted as an <a href="/wiki/Sex_linkage" title="Sex linkage">x-linked</a> <a href="/wiki/Dominant_trait" class="mw-redirect" title="Dominant trait">dominant trait</a>.<sup id="cite_ref-Gonzaga-Jauregui_2010_9-7" class="reference"><a href="#cite_note-Gonzaga-Jauregui_2010-9"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> It is categorised by the lack of male-to-male transmission of the mutated <i>GJB1</i> gene and the differences in severity between <a href="/wiki/Heterozygous" class="mw-redirect" title="Heterozygous">heterozygous</a> women and <a href="/wiki/Hemizygous" class="mw-redirect" title="Hemizygous">hemizygous</a> men, with the later being more severely affected.<sup id="cite_ref-Abrams_2020_14-2" class="reference"><a href="#cite_note-Abrams_2020-14"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup> </p><p>Most of the mutations of the <i>GJB1</i> gene switch or change a single <a href="/wiki/Amino_acid" title="Amino acid">amino acid</a> in the gap junction (connexin-32) protein, although some may result in a protein of irregular size.<sup id="cite_ref-Gonzaga-Jauregui_2010_9-8" class="reference"><a href="#cite_note-Gonzaga-Jauregui_2010-9"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Abrams_2020_14-3" class="reference"><a href="#cite_note-Abrams_2020-14"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Ressot_1996_16-1" class="reference"><a href="#cite_note-Ressot_1996-16"><span class="cite-bracket">[</span>15<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Genetics_Home_Reference_18-4" class="reference"><a href="#cite_note-Genetics_Home_Reference-18"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup> Some of these mutations also cause <a href="/wiki/Hearing_loss" title="Hearing loss">hearing loss</a> in patients with CMTX.<sup id="cite_ref-Genetics_Home_Reference_18-5" class="reference"><a href="#cite_note-Genetics_Home_Reference-18"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup> Currently it is unknown how the mutations of the <i>GJB1</i> gene lead to these specific features of Charcot-Marie-Tooth disease, however it is theorised that the cause is due to the <a href="/wiki/Demyelination" class="mw-redirect" title="Demyelination">demyelination</a> of nerve cells.<sup id="cite_ref-Genetics_Home_Reference_18-6" class="reference"><a href="#cite_note-Genetics_Home_Reference-18"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup> As a result, transmission rates of nerve communication in the <a href="/wiki/Peripheral_nervous_system" title="Peripheral nervous system">peripheral nervous system</a> are delayed, which in turn would cause irregularities in the normal function of <a href="/wiki/Schwann_cells" class="mw-redirect" title="Schwann cells">Schwann cells</a>.<sup id="cite_ref-Genetics_Home_Reference_18-7" class="reference"><a href="#cite_note-Genetics_Home_Reference-18"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup> </p><p>Whilst CMTX is more commonly known to affect the peripheral nervous system some cases have been reported in which there is evidence of demyelination of the <a href="/wiki/Central_nervous_system" title="Central nervous system">central nervous system</a>.<sup id="cite_ref-OMIM_304040_7-3" class="reference"><a href="#cite_note-OMIM_304040-7"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Genetics_Home_Reference_18-8" class="reference"><a href="#cite_note-Genetics_Home_Reference-18"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup> These abnormalities whilst not presenting any symptoms were identified through <a href="/wiki/Nerve_impulse" class="mw-redirect" title="Nerve impulse">nerve impulse</a> and imaging studies, and are believed to also be caused through mutations on the <i>GJB1</i> gene.<sup id="cite_ref-Genetics_Home_Reference_18-9" class="reference"><a href="#cite_note-Genetics_Home_Reference-18"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Diagnosis/testing"><span id="Diagnosis.2Ftesting"></span>Diagnosis/testing</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=GJB1&action=edit&section=7" title="Edit section: Diagnosis/testing"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Historically CMTX could only be diagnosed through symptoms or measurement of the speed of nerve impulses. With the creation of <a href="/wiki/Genetic_testing" title="Genetic testing">genetic testing</a>, 90% of CMTX cases are now diagnosed using the mutations of the <i>GJB1</i> (Cx32) gene.<sup id="cite_ref-Abrams_2020_14-4" class="reference"><a href="#cite_note-Abrams_2020-14"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup> The <a href="/wiki/Genetic_screening" class="mw-redirect" title="Genetic screening">genetic screening</a> of families has also become common after the diagnosis of CMTX in a patient, to further identify other family members that may be suffering from the disease. This screening is also used systematically by researchers to identify new mutations within the gene.<sup id="cite_ref-OMIM_304040_7-4" class="reference"><a href="#cite_note-OMIM_304040-7"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-WikiGenes_15-1" class="reference"><a href="#cite_note-WikiGenes-15"><span class="cite-bracket">[</span>14<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Ressot_1996_16-2" class="reference"><a href="#cite_note-Ressot_1996-16"><span class="cite-bracket">[</span>15<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Management">Management</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=GJB1&action=edit&section=8" title="Edit section: Management"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Currently CMTX is an incurable condition, instead patients are evaluated and treated for symptoms caused by the disease. Treatment is limited to rehabilitative therapy, use of assistive devices such as <a href="/wiki/Orthoses" class="mw-redirect" title="Orthoses">orthoses</a> and in some cases surgical treatment of skeletal deformities and soft-tissue abnormalities.<sup id="cite_ref-Abrams_2020_14-5" class="reference"><a href="#cite_note-Abrams_2020-14"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup> Surgical treatment most commonly includes <a href="/wiki/Osteotomy" title="Osteotomy">osteotomies</a>, soft-tissue surgery (including <a href="/wiki/Tendon_transfer" title="Tendon transfer">tendon transfers</a>) and/or joint fusions.<sup id="cite_ref-Abrams_2020_14-6" class="reference"><a href="#cite_note-Abrams_2020-14"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Genetic_counseling">Genetic counseling</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=GJB1&action=edit&section=9" title="Edit section: Genetic counseling"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Due to the nature of inheritance of CMTX, affected males will pass the <i>GJB1</i> gene mutation to all female children and none of their male children, whilst females who are carriers will have a 50% chance of passing on the mutation to each of their offspring.<sup id="cite_ref-Abrams_2020_14-7" class="reference"><a href="#cite_note-Abrams_2020-14"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup> With the development of genetic testing, it is possible to perform both <a href="/wiki/Prenatal" class="mw-redirect" title="Prenatal">prenatal</a> and <a href="/wiki/Preimplantation_genetic_diagnosis" title="Preimplantation genetic diagnosis">pre-implantation testing</a> elected by the patient, when their type of mutation has been identified.<sup id="cite_ref-Abrams_2020_14-8" class="reference"><a href="#cite_note-Abrams_2020-14"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup> Results from genetic testing can then be used to prevent the transmission of this disease to their offspring. </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=GJB1&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/Connexin" title="Connexin">Connexin</a></li> <li><a href="/wiki/Gap_junction" title="Gap junction">Gap junction</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=GJB1&action=edit&section=11" title="Edit section: Notes"><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 reflist-lower-alpha"> <div class="mw-references-wrap"><ol class="references"> <li id="cite_note-5"><span class="mw-cite-backlink"><b><a href="#cite_ref-5">^</a></b></span> <span class="reference-text">Note on nomenclature: The abbreviation "GJB1" is used to refer to both the GJB1 gene (italicized) and the protein. In this article, "GJB1" (not italicized) refers to the protein and GJB1 (italicized) to the gene</span> </li> </ol></div></div> <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=GJB1&action=edit&section=12" title="Edit section: References"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1239543626" /><div class="reflist reflist-columns references-column-width" style="column-width: 33em;"> <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=ENSG00000169562">GRCh38: Ensembl release 89: ENSG00000169562</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 href="#cite_ref-refGRCm38Ensembl_2-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-refGRCm38Ensembl_2-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-refGRCm38Ensembl_2-2"><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/Mus_musculus/Gene/Summary?db=core;g=ENSMUSG00000047797">GRCm38: Ensembl release 89: ENSMUSG00000047797</a> – <a href="/wiki/Ensembl_genome_database_project" title="Ensembl genome database project">Ensembl</a>, May 2017</span> </li> <li id="cite_note-3"><span class="mw-cite-backlink"><b><a 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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 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US National Library of Medicine.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=unknown&rft.jtitle=Genetics+Home+Reference&rft.atitle=GJB1+gene&rft_id=https%3A%2F%2Fghr.nlm.nih.gov%2Fgene%2FGJB1&rfr_id=info%3Asid%2Fen.wikipedia.org%3AGJB1" class="Z3988"></span></span> </li> <li id="cite_note-19"><span class="mw-cite-backlink"><b><a href="#cite_ref-19">^</a></b></span> <span class="reference-text">Muscular Dystrophy Association, "Charcot-Marie-Tooth Disease (CMT): CMTX, at <a rel="nofollow" class="external free" href="https://www.mda.org/disease/charcot-marie-tooth/types/cmtx">https://www.mda.org/disease/charcot-marie-tooth/types/cmtx</a></span> </li> <li id="cite_note-20"><span class="mw-cite-backlink"><b><a href="#cite_ref-20">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222" /><cite id="CITEREFKleopaAbramsScherer2012" class="citation journal cs1">Kleopa KA, Abrams CK, Scherer SS (December 2012). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3488165">"How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?"</a>. <i>Brain Research</i>. <b>1487</b>: <span class="nowrap">198–</span>205. <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.brainres.2012.03.068">10.1016/j.brainres.2012.03.068</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/PMC3488165">3488165</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/22771394">22771394</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Brain+Research&rft.atitle=How+do+mutations+in+GJB1+cause+X-linked+Charcot-Marie-Tooth+disease%3F&rft.volume=1487&rft.pages=%3Cspan+class%3D%22nowrap%22%3E198-%3C%2Fspan%3E205&rft.date=2012-12&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC3488165%23id-name%3DPMC&rft_id=info%3Apmid%2F22771394&rft_id=info%3Adoi%2F10.1016%2Fj.brainres.2012.03.068&rft.aulast=Kleopa&rft.aufirst=KA&rft.au=Abrams%2C+CK&rft.au=Scherer%2C+SS&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC3488165&rfr_id=info%3Asid%2Fen.wikipedia.org%3AGJB1" class="Z3988"></span></span> </li> <li id="cite_note-21"><span class="mw-cite-backlink"><b><a href="#cite_ref-21">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222" /><cite id="CITEREFAbramsGomanWongScherer2017" class="citation journal cs1">Abrams CK, Goman M, Wong S, Scherer SS, Kleopa KA, Peinado A, Freidin MM (January 2017). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223219">"Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations"</a>. <i>Scientific Reports</i>. <b>7</b> (1): 40166. <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/2017NatSR...740166A">2017NatSR...740166A</a>. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1038%2Fsrep40166">10.1038/srep40166</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/PMC5223219">5223219</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/28071741">28071741</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Scientific+Reports&rft.atitle=Loss+of+Coupling+Distinguishes+GJB1+Mutations+Associated+with+CNS+Manifestations+of+CMT1X+from+Those+Without+CNS+Manifestations&rft.volume=7&rft.issue=1&rft.pages=40166&rft.date=2017-01&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC5223219%23id-name%3DPMC&rft_id=info%3Apmid%2F28071741&rft_id=info%3Adoi%2F10.1038%2Fsrep40166&rft_id=info%3Abibcode%2F2017NatSR...740166A&rft.aulast=Abrams&rft.aufirst=CK&rft.au=Goman%2C+M&rft.au=Wong%2C+S&rft.au=Scherer%2C+SS&rft.au=Kleopa%2C+KA&rft.au=Peinado%2C+A&rft.au=Freidin%2C+MM&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC5223219&rfr_id=info%3Asid%2Fen.wikipedia.org%3AGJB1" class="Z3988"></span></span> </li> </ol></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=GJB1&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: 33em"> <ul><li><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222" /><cite id="CITEREFHarrisLocke2009" class="citation book cs1">Harris AL, Locke D (2009). <a rel="nofollow" class="external text" href="https://www.springer.com/978-1-934115-46-6"><i>Connexins, A Guide</i></a>. New York: Springer. p. 574. <a href="/wiki/ISBN_(identifier)" class="mw-redirect" title="ISBN (identifier)">ISBN</a> <a href="/wiki/Special:BookSources/978-1-934115-46-6" title="Special:BookSources/978-1-934115-46-6"><bdi>978-1-934115-46-6</bdi></a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=book&rft.btitle=Connexins%2C+A+Guide&rft.place=New+York&rft.pages=574&rft.pub=Springer&rft.date=2009&rft.isbn=978-1-934115-46-6&rft.aulast=Harris&rft.aufirst=AL&rft.au=Locke%2C+D&rft_id=https%3A%2F%2Fwww.springer.com%2F978-1-934115-46-6&rfr_id=info%3Asid%2Fen.wikipedia.org%3AGJB1" class="Z3988"></span></li> <li><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222" /><cite id="CITEREFLatourFabreguetteRessotBlanquet-Grossard1997" class="citation journal cs1">Latour P, Fabreguette A, Ressot C, Blanquet-Grossard F, Antoine JC, Calvas P, et al. (1997). 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"Regulation of renal cell carcinoma cell proliferation, invasion and metastasis by connexin 32 gene". <i>The Journal of Membrane Biology</i>. <b>216</b> (1): <span class="nowrap">17–</span>21. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1007%2Fs00232-007-9020-5">10.1007/s00232-007-9020-5</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/17565422">17565422</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:38489865">38489865</a>.</cite><span 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href="/wiki/Template:Ion_channels" title="Template:Ion channels"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Ion_channels" title="Template talk:Ion channels"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Ion_channels" title="Special:EditPage/Template:Ion channels"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Membrane_transport_protein:_ion_channels_(TC_1A)163" style="font-size:114%;margin:0 4em"><a href="/wiki/Membrane_transport_protein" title="Membrane transport protein">Membrane transport protein</a>: <a href="/wiki/Ion_channel" title="Ion channel">ion channels</a> (<a href="/wiki/Transporter_Classification_Database#1._Channels/Pores" title="Transporter Classification Database">TC 1A</a>)</div></th></tr><tr><td colspan="2" class="navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks mw-collapsible mw-collapsed navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="col" class="navbox-title" colspan="2" style="background-color: AntiqueWhite;"><div id="Ca2+:_Calcium_channel163" style="font-size:114%;margin:0 4em"><i>Ca<sup>2+</sup>:</i> <a href="/wiki/Calcium_channel" title="Calcium channel">Calcium channel</a></div></th></tr><tr><td colspan="2" class="navbox-list navbox-odd" style="width:100%;padding:0;background:transparent;"><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:15em;text-align:left;">Ligand-gated</th><td class="navbox-list-with-group navbox-list navbox-odd" style="padding:0;background-color: AntiqueWhite;"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Inositol_trisphosphate_receptor" title="Inositol trisphosphate receptor">Inositol trisphosphate receptor</a> <ul><li><a href="/wiki/ITPR1" title="ITPR1">1</a></li> <li><a href="/wiki/ITPR2" title="ITPR2">2</a></li> <li><a href="/wiki/ITPR3" title="ITPR3">3</a></li></ul></li> <li><a href="/wiki/Ryanodine_receptor" title="Ryanodine receptor">Ryanodine receptor</a> <ul><li><a href="/wiki/RYR1" class="mw-redirect" title="RYR1">1</a></li> <li><a href="/wiki/Ryanodine_receptor_2" title="Ryanodine receptor 2">2</a></li> <li><a href="/wiki/RYR3" class="mw-redirect" title="RYR3">3</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:15em;text-align:left;"><a href="/wiki/Voltage-gated_calcium_channel" title="Voltage-gated calcium channel">Voltage-gated</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/L-type_calcium_channel" title="L-type calcium channel">L-type</a>/<i>Ca<sub>v</sub>α</i> <ul><li><a href="/wiki/Cav1.1" title="Cav1.1">1.1</a></li> <li><a href="/wiki/Cav1.2" title="Cav1.2">1.2</a></li> <li><a href="/wiki/Cav1.3" title="Cav1.3">1.3</a></li> <li><a href="/wiki/Cav1.4" title="Cav1.4">1.4</a></li></ul></li> <li><a href="/wiki/N-type_calcium_channel" title="N-type calcium channel">N-type</a>/<i>Ca<sub>v</sub>α2.2</i></li> <li><a href="/wiki/P-type_calcium_channel" title="P-type calcium channel">P-type</a>/<i>Ca<sub>v</sub>α</i> <ul><li><a href="/wiki/Cav2.1" title="Cav2.1">2.1</a></li></ul></li> <li><a href="/wiki/Q-type_calcium_channel" title="Q-type calcium channel">Q-type</a>/<i>Ca<sub>v</sub>α2.1</i></li> <li><a href="/wiki/R-type_calcium_channel" title="R-type calcium channel">R-type</a>/<i>Ca<sub>v</sub>α2.3</i></li> <li><a href="/wiki/T-type_calcium_channel" title="T-type calcium channel">T-type</a>/<i>Ca<sub>v</sub>α</i> <ul><li><a href="/wiki/CACNA1G" title="CACNA1G">3.1</a></li> <li><a href="/wiki/CACNA1H" class="mw-redirect" title="CACNA1H">3.2</a></li> <li><a href="/wiki/CACNA1I" title="CACNA1I">3.3</a></li></ul></li></ul> <ul><li><i>α<sub>2</sub>δ-subunits</i> <ul><li><a href="/wiki/CACNA2D1" title="CACNA2D1">1</a></li> <li><a href="/wiki/CACNA2D2" title="CACNA2D2">2</a></li></ul></li> <li><i>β-subunits</i> <ul><li><a href="/wiki/CACNB1" title="CACNB1">β1</a></li> <li><a href="/wiki/CACNB2" title="CACNB2">β2</a></li> <li><a href="/wiki/CACNB3" title="CACNB3">β3</a></li> <li><a href="/wiki/CACNB4" title="CACNB4">β4</a></li></ul></li> <li><i>γ-subunits</i> <ul><li><a href="/wiki/CACNG1" title="CACNG1">γ1</a></li> <li><a href="/wiki/CACNG2" title="CACNG2">γ2</a></li> <li><a href="/wiki/CACNG3" title="CACNG3">γ3</a></li> <li><a href="/wiki/CACNG4" title="CACNG4">γ4</a></li></ul></li></ul> <ul><li><a href="/wiki/Cation_channels_of_sperm" title="Cation channels of sperm">Cation channels of sperm</a> <ul><li><a href="/wiki/CatSper1" title="CatSper1">1</a></li> <li><a href="/wiki/CatSper2" title="CatSper2">2</a></li> <li><a href="/wiki/CatSper3" title="CatSper3">3</a></li> <li><a href="/wiki/CatSper4" title="CatSper4">4</a></li></ul></li> <li><a href="/wiki/Two-pore_channel" title="Two-pore channel">Two-pore channel</a> <ul><li><a href="/wiki/TPCN1" title="TPCN1">1</a></li> <li><a href="/wiki/TPCN2" title="TPCN2">2</a></li></ul></li></ul> </div></td></tr></tbody></table><div></div></td></tr></tbody></table><div></div></td></tr><tr><td colspan="2" class="navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks mw-collapsible mw-collapsed navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="col" class="navbox-title" colspan="2" style="background-color: AntiqueWhite;"><div id="Na+:_Sodium_channel163" style="font-size:114%;margin:0 4em"><i>Na<sup>+</sup>:</i> <a href="/wiki/Sodium_channel" title="Sodium channel">Sodium channel</a></div></th></tr><tr><td colspan="2" class="navbox-list navbox-odd" style="width:100%;padding:0;background:transparent;"><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:15em;text-align:left;">Constitutively active</th><td class="navbox-list-with-group navbox-list navbox-odd" style="padding:0;background-color: AntiqueWhite;"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Epithelial_sodium_channel" title="Epithelial sodium channel">Epithelial sodium channel</a> <ul><li><a href="/wiki/SCNN1A" title="SCNN1A">α</a></li> <li><a href="/wiki/SCNN1B" title="SCNN1B">β</a></li> <li><a href="/wiki/SCNN1G" title="SCNN1G">γ</a></li> <li><a href="/wiki/SCNN1D" title="SCNN1D">δ</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:15em;text-align:left;"><a href="/wiki/Hydron_(chemistry)" title="Hydron (chemistry)">Proton</a>-gated</th><td class="navbox-list-with-group navbox-list navbox-even" style="padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Acid-sensing_ion_channel" title="Acid-sensing ion channel">Amiloride-sensitive cation channel</a> <ul><li><a href="/wiki/ACCN1" class="mw-redirect" title="ACCN1">1</a></li> <li><a href="/wiki/ACCN2" class="mw-redirect" title="ACCN2">2</a></li> <li><a href="/wiki/ACCN3" class="mw-redirect" title="ACCN3">3</a></li> <li><a href="/wiki/ACCN4" class="mw-redirect" title="ACCN4">4</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:15em;text-align:left;"><a href="/wiki/Voltage-gated_sodium_channel" title="Voltage-gated sodium channel">Voltage-gated</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="padding:0;background-color: AntiqueWhite;"><div style="padding:0 0.25em"> <ul><li><i>Na<sub>v</sub>α</i> <ul><li><a href="/wiki/Nav1.1" class="mw-redirect" title="Nav1.1">1.1</a></li> <li><a href="/wiki/Nav1.2" class="mw-redirect" title="Nav1.2">1.2</a></li> <li><a href="/wiki/SCN3A" title="SCN3A">1.3</a></li> <li><a href="/wiki/Nav1.4" title="Nav1.4">1.4</a></li> <li><a href="/wiki/Nav1.5" class="mw-redirect" title="Nav1.5">1.5</a></li> <li><a href="/wiki/SCN8A" title="SCN8A">1.6</a></li> <li><a href="/wiki/Nav1.7" class="mw-redirect" title="Nav1.7">1.7</a></li> <li><a href="/wiki/SCN10A" class="mw-redirect" title="SCN10A">1.8</a></li> <li><a href="/wiki/Nav1.9" title="Nav1.9">1.9</a></li> <li><a href="/wiki/SCN7A" title="SCN7A">7A</a></li></ul></li> <li><i>Na<sub>v</sub>β</i> <ul><li><a href="/wiki/SCN1B" title="SCN1B">1</a></li> <li><a href="/wiki/SCN2B" title="SCN2B">2</a></li> <li><a href="/wiki/SCN3B" title="SCN3B">3</a></li> <li><a href="/wiki/SCN4B" title="SCN4B">4</a></li></ul></li></ul> </div></td></tr></tbody></table><div></div></td></tr></tbody></table><div></div></td></tr><tr><td colspan="2" class="navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks mw-collapsible mw-collapsed navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="col" class="navbox-title" colspan="2" style="background-color: AntiqueWhite;"><div id="K+:_Potassium_channel163" style="font-size:114%;margin:0 4em"><i>K<sup>+</sup>:</i> <a href="/wiki/Potassium_channel" title="Potassium channel">Potassium channel</a></div></th></tr><tr><td colspan="2" class="navbox-list navbox-odd" style="width:100%;padding:0;background:transparent;"><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:15em;text-align:left;"><a href="/wiki/Calcium-activated_potassium_channel" title="Calcium-activated potassium channel">Calcium-activated</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="padding:0;background-color: AntiqueWhite;"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/BK_channel" title="BK channel">BK channel</a> <ul><li><a href="/wiki/Calcium-activated_potassium_channel_subunit_alpha-1" title="Calcium-activated potassium channel subunit alpha-1">α1</a></li> <li><a href="/wiki/KCNMB1" title="KCNMB1">β1</a></li> <li><a href="/wiki/KCNMB2" title="KCNMB2">β2</a></li> <li><a href="/wiki/KCNMB3" title="KCNMB3">β3</a></li> <li><a href="/wiki/KCNMB4" title="KCNMB4">β4</a></li></ul></li> <li><a href="/wiki/SK_channel" title="SK channel">SK channel</a> <ul><li><a href="/wiki/KCNN1" title="KCNN1">SK1</a></li> <li><a href="/wiki/KCNN2" title="KCNN2">SK2</a></li> <li><a href="/wiki/SK3" title="SK3">SK3</a></li></ul></li> <li>IK channel <ul><li><a href="/wiki/KCNN4" title="KCNN4">IK1</a></li></ul></li> <li><i>K<sub>Ca</sub></i> <ul><li><a href="/wiki/Calcium-activated_potassium_channel_subunit_alpha-1" title="Calcium-activated potassium channel subunit alpha-1">1.1</a></li> <li><a href="/wiki/KCNN1" title="KCNN1">2.1</a></li> <li><a href="/wiki/KCNN2" title="KCNN2">2.2</a></li> <li><a href="/wiki/SK3" title="SK3">2.3</a></li> <li><a href="/wiki/KCNN4" title="KCNN4">3.1</a></li> <li><a href="/wiki/KCNT1" title="KCNT1">4.1</a></li> <li><a href="/wiki/KCNT2" title="KCNT2">4.2</a></li> <li><a href="/wiki/KCNU1" title="KCNU1">5.1</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:15em;text-align:left;"><a href="/wiki/Inward-rectifier_potassium_ion_channel" class="mw-redirect" title="Inward-rectifier potassium ion channel">Inward-rectifier</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/ATP-sensitive_potassium_channel" title="ATP-sensitive potassium channel">K<sub>ATP</sub></a></li> <li><i>K<sub>ir</sub></i> <ul><li><a href="/wiki/ROMK" title="ROMK">1.1</a></li> <li><a href="/wiki/Kir2.1" title="Kir2.1">2.1</a></li> <li><a href="/wiki/KCNJ12" title="KCNJ12">2.2</a></li> <li><a href="/wiki/KCNJ4" title="KCNJ4">2.3</a></li> <li><a href="/wiki/KCNJ14" title="KCNJ14">2.4</a></li> <li><a href="/wiki/Kir2.6" title="Kir2.6">2.6</a></li></ul></li> <li><a href="/wiki/G_protein-coupled_inwardly_rectifying_potassium_channel" title="G protein-coupled inwardly rectifying potassium channel">GIRK</a>/<i>K<sub>ir</sub></i> <ul><li><a href="/wiki/KCNJ3" title="KCNJ3">3.1</a></li> <li><a href="/wiki/KCNJ6" title="KCNJ6">3.2</a></li> <li><a href="/wiki/KCNJ9" title="KCNJ9">3.3</a></li> <li><a href="/wiki/KCNJ5" title="KCNJ5">3.4</a></li></ul></li> <li><i>K<sub>ir</sub></i> <ul><li><a href="/wiki/KCNJ10" title="KCNJ10">4.1</a></li> <li><a href="/wiki/KCNJ15" title="KCNJ15">4.2</a></li> <li><a href="/wiki/KCNJ16" title="KCNJ16">5.1</a></li> <li><a href="/wiki/KCNJ8" title="KCNJ8">6.1</a></li> <li><a href="/wiki/Kir6.2" title="Kir6.2">6.2</a></li> <li><a href="/wiki/KCNJ13" title="KCNJ13">7.1</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:15em;text-align:left;"><a href="/wiki/Tandem_pore_domain_potassium_channel" class="mw-redirect" title="Tandem pore domain potassium channel">Tandem pore domain</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="padding:0;background-color: AntiqueWhite;"><div style="padding:0 0.25em"> <ul><li><i>K2P</i> <ul><li><a href="/wiki/KCNK1" title="KCNK1">1</a></li> <li><a href="/wiki/KCNK2" title="KCNK2">2</a></li> <li><a href="/wiki/KCNK3" title="KCNK3">3</a></li> <li><a href="/wiki/KCNK4" title="KCNK4">4</a></li> <li><a href="/wiki/KCNK5" title="KCNK5">5</a></li> <li><a href="/wiki/KCNK6" title="KCNK6">6</a></li> <li><a href="/wiki/KCNK7" title="KCNK7">7</a></li> <li><a href="/wiki/KCNK9" title="KCNK9">9</a></li> <li><a href="/wiki/KCNK10" title="KCNK10">10</a></li> <li><a href="/wiki/KCNK12" title="KCNK12">12</a></li> <li><a href="/wiki/KCNK13" title="KCNK13">13</a></li> <li><a href="/wiki/KCNK15" title="KCNK15">15</a></li> <li><a href="/wiki/KCNK16" title="KCNK16">16</a></li> <li><a href="/wiki/KCNK17" title="KCNK17">17</a></li> <li><a href="/wiki/KCNK18" title="KCNK18">18</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:15em;text-align:left;"><a href="/wiki/Voltage-gated_potassium_channel" title="Voltage-gated potassium channel">Voltage-gated</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="padding:0"><div style="padding:0 0.25em"> <ul><li><i>K<sub>v</sub>α1-6</i> <ul><li><a href="/wiki/Kv1.1" title="Kv1.1">1.1</a></li> <li><a href="/wiki/KCNA2" title="KCNA2">1.2</a></li> <li><a href="/wiki/KCNA3" title="KCNA3">1.3</a></li> <li><a href="/wiki/KCNA4" title="KCNA4">1.4</a></li> <li><a href="/wiki/KCNA5" title="KCNA5">1.5</a></li> <li><a href="/wiki/KCNA6" title="KCNA6">1.6</a></li> <li><a href="/wiki/KCNA7" title="KCNA7">1.7</a></li> <li><a href="/wiki/KCNA10" title="KCNA10">1.8</a></li></ul></li> <li> <ul><li><a href="/wiki/KCNB1" title="KCNB1">2.1</a></li> <li><a href="/wiki/KCNB2" title="KCNB2">2.2</a></li></ul></li> <li> <ul><li><a href="/wiki/KCNC1" title="KCNC1">3.1</a></li> <li><a href="/wiki/KCNC2" title="KCNC2">3.2</a></li> <li><a href="/wiki/KCNC3" title="KCNC3">3.3</a></li> <li><a href="/wiki/KCNC4" title="KCNC4">3.4</a></li></ul></li> <li> <ul><li><a href="/wiki/KCND1" title="KCND1">4.1</a></li> <li><a href="/wiki/KCND2" title="KCND2">4.2</a></li> <li><a href="/wiki/KCND3" title="KCND3">4.3</a></li></ul></li> <li> <ul><li><a href="/wiki/KCNF1" title="KCNF1">5.1</a></li></ul></li> <li> <ul><li><a href="/wiki/KCNG1" title="KCNG1">6.1</a></li> <li><a href="/wiki/KCNG2" title="KCNG2">6.2</a></li> <li><a href="/wiki/KCNG3" title="KCNG3">6.3</a></li> <li><a href="/wiki/KCNG4" title="KCNG4">6.4</a></li></ul></li></ul> <ul><li><i>K<sub>v</sub>α7-12</i> <ul><li><a href="/wiki/KvLQT1" title="KvLQT1">7.1</a></li> <li><a href="/wiki/KvLQT2" title="KvLQT2">7.2</a></li> <li><a href="/wiki/KvLQT3" title="KvLQT3">7.3</a></li> <li><a href="/wiki/KCNQ4" title="KCNQ4">7.4</a></li> <li><a href="/wiki/KCNQ5" title="KCNQ5">7.5</a></li></ul></li> <li> <ul><li><a href="/wiki/KCNV1" title="KCNV1">8.1</a></li> <li><a href="/wiki/KCNV2" title="KCNV2">8.2</a></li></ul></li> <li> <ul><li><a href="/wiki/KCNS1" title="KCNS1">9.1</a></li> <li><a href="/wiki/KCNS2" title="KCNS2">9.2</a></li> <li><a href="/wiki/KCNS3" title="KCNS3">9.3</a></li></ul></li> <li> <ul><li><a href="/wiki/KCNH1" title="KCNH1">10.1</a></li> <li><a href="/wiki/KCNH5" title="KCNH5">10.2</a></li></ul></li> <li> <ul><li><a href="/wiki/HERG" title="HERG">11.1/hERG</a></li> <li><a href="/wiki/KCNH6" title="KCNH6">11.2</a></li> <li><a href="/wiki/KCNH7" title="KCNH7">11.3</a></li></ul></li> <li> <ul><li><a href="/wiki/KCNH8" title="KCNH8">12.1</a></li> <li><a href="/wiki/KCNH3" title="KCNH3">12.2</a></li> <li><a href="/wiki/KCNH4" title="KCNH4">12.3</a></li></ul></li></ul> <ul><li><i>K<sub>v</sub>β</i> <ul><li><a href="/wiki/KCNAB1" title="KCNAB1">1</a></li> <li><a href="/wiki/KCNAB2" title="KCNAB2">2</a></li> <li><a href="/wiki/KCNAB3" title="KCNAB3">3</a></li></ul></li> <li><i>KCNIP</i> <ul><li><a href="/wiki/KCNIP1" title="KCNIP1">1</a></li> <li><a href="/wiki/KCNIP2" title="KCNIP2">2</a></li> <li><a href="/wiki/Calsenilin" title="Calsenilin">3</a></li> <li><a href="/wiki/KCNIP4" title="KCNIP4">4</a></li></ul></li> <li><a href="/wiki/KCNE1" title="KCNE1">minK/ISK</a></li> <li><a href="/wiki/KCNE1L" class="mw-redirect" title="KCNE1L">minK/ISK-like</a></li> <li><i>MiRP</i> <ul><li><a href="/wiki/KCNE2" title="KCNE2">1</a></li> <li><a href="/wiki/KCNE3" title="KCNE3">2</a></li> <li><a href="/wiki/KCNE4" title="KCNE4">3</a></li></ul></li> <li><a href="/wiki/Shaker_(gene)" title="Shaker (gene)">Shaker (gene)</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr></tbody></table><div></div></td></tr><tr><td colspan="2" class="navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks mw-collapsible uncollapsed navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="col" class="navbox-title" colspan="2" style="background-color: AntiqueWhite;"><div id="Miscellaneous163" style="font-size:114%;margin:0 4em"><i>Miscellaneous</i></div></th></tr><tr><td colspan="2" class="navbox-list navbox-odd" style="width:100%;padding:0;background:transparent;"><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:15em;text-align:left;"><i><a href="/wiki/Chloride" title="Chloride">Cl<sup>−</sup></a>:</i> <a href="/wiki/Chloride_channel" title="Chloride channel">Chloride channel</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="padding:0;background-color: AntiqueWhite;"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Calcium-activated_chloride_channel" class="mw-redirect" title="Calcium-activated chloride channel">Calcium-activated chloride channels</a> <ul><li><i>Anoctamin</i> <ul><li><a href="/wiki/ANO1" title="ANO1">ANO1</a></li></ul></li> <li><i>Bestrophin</i> <ul><li><a href="/wiki/Bestrophin_1" title="Bestrophin 1">1</a></li> <li><a href="/wiki/BEST2" class="mw-redirect" title="BEST2">2</a></li></ul></li> <li><i>Chloride Channel Accessory</i> <ul><li><a href="/wiki/CLCA1" title="CLCA1">1</a></li> <li><a href="/wiki/CLCA2" title="CLCA2">2</a></li> <li><a href="/wiki/CLCA3" title="CLCA3">3</a></li> <li><a href="/wiki/CLCA4" title="CLCA4">4</a></li></ul></li></ul></li> <li><a href="/wiki/Cystic_fibrosis_transmembrane_conductance_regulator" title="Cystic fibrosis transmembrane conductance regulator">CFTR</a></li> <li><i>CLCN</i> <ul><li><a href="/wiki/CLCN1" title="CLCN1">1</a></li> <li><a href="/wiki/CLCN2" title="CLCN2">2</a></li> <li><a href="/wiki/CLCN3" title="CLCN3">3</a></li> <li><a href="/wiki/CLCN4" title="CLCN4">4</a></li> <li><a href="/wiki/CLCN5" title="CLCN5">5</a></li> <li><a href="/wiki/CLCN6" title="CLCN6">6</a></li> <li><a href="/wiki/CLCN7" title="CLCN7">7</a></li> <li><a href="/wiki/CLCNKA" title="CLCNKA">KA</a></li> <li><a href="/wiki/CLCNKB" title="CLCNKB">KB</a></li></ul></li> <li><i>CLIC</i> <ul><li><a href="/wiki/CLIC1" title="CLIC1">1</a></li> <li><a href="/wiki/CLIC2" title="CLIC2">2</a></li> <li><a href="/wiki/CLIC3" title="CLIC3">3</a></li> <li><a href="/wiki/CLIC4" title="CLIC4">4</a></li> <li><a href="/wiki/CLIC5" title="CLIC5">5</a></li> <li><a href="/wiki/CLIC6" title="CLIC6">6</a></li> <li><a href="/wiki/CLCC1" title="CLCC1">L1</a></li></ul></li> <li><i>CLNS</i> <ul><li><a href="/wiki/CLNS1A" title="CLNS1A">1A</a></li> <li><a href="/wiki/CLNS1B" title="CLNS1B">1B</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:15em;text-align:left;"><i><a href="/wiki/Hydron_(chemistry)" title="Hydron (chemistry)">H<sup>+</sup></a>:</i> <a href="/wiki/Voltage-gated_proton_channel" title="Voltage-gated proton channel">Proton channel</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/HVCN1" title="HVCN1">HVCN1</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:15em;text-align:left;"><i><a href="/wiki/Ion#Anions_and_cations" title="Ion">M<sup>+</sup></a>:</i> <a href="/wiki/Cyclic_nucleotide-gated_ion_channel" class="mw-redirect" title="Cyclic nucleotide-gated ion channel">CNG cation channel</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="padding:0;background-color: AntiqueWhite;"><div style="padding:0 0.25em"> <ul><li><i>α</i> <ul><li><a href="/wiki/Cyclic_nucleotide-gated_channel_alpha_1" title="Cyclic nucleotide-gated channel alpha 1">1</a></li> <li><a href="/wiki/Cyclic_nucleotide-gated_channel_alpha_2" title="Cyclic nucleotide-gated channel alpha 2">2</a></li> <li><a href="/wiki/Cyclic_nucleotide-gated_channel_alpha_3" title="Cyclic nucleotide-gated channel alpha 3">3</a></li> <li><a href="/wiki/Cyclic_nucleotide-gated_channel_alpha_4" title="Cyclic nucleotide-gated channel alpha 4">4</a></li></ul></li> <li><i>β</i> <ul><li><a href="/wiki/CNGB1" title="CNGB1">1</a></li> <li><a href="/wiki/Cyclic_nucleotide-gated_channel_alpha_4" title="Cyclic nucleotide-gated channel alpha 4">2</a></li> <li><a href="/wiki/Cyclic_nucleotide_gated_channel_beta_3" title="Cyclic nucleotide gated channel beta 3">3</a></li></ul></li> <li><i><a href="/wiki/HCN_channel" title="HCN channel">HCN</a></i> <ul><li><a href="/wiki/Funny_current" class="mw-redirect" title="Funny current">FC</a></li> <li><a href="/wiki/HCN1" title="HCN1">1</a></li> <li><a href="/wiki/HCN2" title="HCN2">2</a></li> <li><a href="/wiki/HCN3" title="HCN3">3</a></li> <li><a href="/wiki/HCN4" title="HCN4">4</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:15em;text-align:left;"><i><a href="/wiki/Ion#Anions_and_cations" title="Ion">M<sup>+</sup></a>:</i> <a href="/wiki/Transient_receptor_potential_channel" title="Transient receptor potential channel">TRP cation channel</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/TRPA_(channel)" class="mw-redirect" title="TRPA (channel)">TRPA</a> (<a href="/wiki/Transient_receptor_potential_cation_channel,_member_A1" class="mw-redirect" title="Transient receptor potential cation channel, member A1">1</a>)</li> <li><a href="/wiki/TRPC" title="TRPC">TRPC</a> <ul><li><a href="/wiki/TRPC1" title="TRPC1">1</a></li> <li><a href="/wiki/TRPC2" title="TRPC2">2</a></li> <li><a href="/wiki/TRPC3" title="TRPC3">3</a></li> <li><a href="/wiki/TRPC4" title="TRPC4">4</a></li> <li><a href="/wiki/TRPC4AP" title="TRPC4AP">4AP</a></li> <li><a href="/wiki/TRPC5" title="TRPC5">5</a></li> <li><a href="/wiki/TRPC6" title="TRPC6">6</a></li> <li><a href="/wiki/TRPC7" title="TRPC7">7</a></li></ul></li> <li><a href="/wiki/TRPM" title="TRPM">TRPM</a> <ul><li><a href="/wiki/TRPM1" title="TRPM1">1</a></li> <li><a href="/wiki/TRPM2" title="TRPM2">2</a></li> <li><a href="/wiki/TRPM3" title="TRPM3">3</a></li> <li><a href="/wiki/TRPM4" title="TRPM4">4</a></li> <li><a href="/wiki/TRPM5" title="TRPM5">5</a></li> <li><a href="/wiki/TRPM6" title="TRPM6">6</a></li> <li><a href="/wiki/TRPM7" title="TRPM7">7</a></li> <li><a href="/wiki/TRPM8" title="TRPM8">8</a></li></ul></li> <li><a href="/wiki/TRPML" title="TRPML">TRPML</a> <ul><li><a href="/wiki/Mucolipin-1" class="mw-redirect" title="Mucolipin-1">1</a></li> <li><a href="/wiki/MCOLN2" title="MCOLN2">2</a></li> <li><a href="/wiki/MCOLN3" title="MCOLN3">3</a></li></ul></li> <li><a href="/wiki/TRPN" title="TRPN">TRPN</a></li> <li><a href="/wiki/TRPP" title="TRPP">TRPP</a> <ul><li><a href="/wiki/PKD1" class="mw-redirect" title="PKD1">1</a></li> <li><a href="/wiki/Polycystic_kidney_disease_2" class="mw-redirect" title="Polycystic kidney disease 2">2</a></li></ul></li> <li><a href="/wiki/TRPV" title="TRPV">TRPV</a> <ul><li><a href="/wiki/TRPV1" title="TRPV1">1</a></li> <li><a href="/wiki/TRPV2" title="TRPV2">2</a></li> <li><a href="/wiki/TRPV3" title="TRPV3">3</a></li> <li><a href="/wiki/TRPV4" title="TRPV4">4</a></li> <li><a href="/wiki/TRPV5" title="TRPV5">5</a></li> <li><a href="/wiki/TRPV6" title="TRPV6">6</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:15em;text-align:left;"><i><a href="/wiki/Water" title="Water">H<sub>2</sub>O</a> (+ <a href="/wiki/Solutes" class="mw-redirect" title="Solutes">solutes</a>):</i> <a href="/wiki/Porin_(protein)" title="Porin (protein)">Porin</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="padding:0;background-color: AntiqueWhite;"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Aquaporin" title="Aquaporin">Aquaporin</a> <ul><li><a href="/wiki/MIP_(gene)" class="mw-redirect" title="MIP (gene)">0</a></li> <li><a href="/wiki/Aquaporin_1" class="mw-redirect" title="Aquaporin 1">1</a></li> <li><a href="/wiki/Aquaporin_2" class="mw-redirect" title="Aquaporin 2">2</a></li> <li><a href="/wiki/Aquaporin_3" class="mw-redirect" title="Aquaporin 3">3</a></li> <li><a href="/wiki/Aquaporin_4" class="mw-redirect" title="Aquaporin 4">4</a></li> <li><a href="/wiki/AQP5" class="mw-redirect" title="AQP5">5</a></li> <li><a href="/wiki/AQP6" class="mw-redirect" title="AQP6">6</a></li> <li><a href="/wiki/AQP7" class="mw-redirect" title="AQP7">7</a></li> <li><a href="/wiki/AQP8" class="mw-redirect" title="AQP8">8</a></li> <li><a href="/wiki/AQP9" class="mw-redirect" title="AQP9">9</a></li></ul></li> <li><a href="/wiki/Voltage-dependent_anion_channel" title="Voltage-dependent anion channel">Voltage-dependent anion channel</a> <ul><li><a href="/wiki/VDAC1" title="VDAC1">1</a></li> <li><a href="/wiki/VDAC2" title="VDAC2">2</a></li> <li><a href="/wiki/VDAC3" title="VDAC3">3</a></li></ul></li> <li><a href="/wiki/General_bacterial_porin_family" title="General bacterial porin family">General bacterial porin family</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:15em;text-align:left;"><i><a href="/wiki/Cytoplasm" title="Cytoplasm">Cytoplasm</a>:</i> <a href="/wiki/Gap_junction" title="Gap junction">Gap junction</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Connexin" title="Connexin">Connexin</a> <ul><li>A <ul><li><a href="/wiki/GJA1" title="GJA1">GJA1</a></li> <li><a href="/wiki/GJA3" title="GJA3">GJA3</a></li> <li><a href="/wiki/GJA4" title="GJA4">GJA4</a></li> <li><a href="/wiki/GJA5" title="GJA5">GJA5</a></li> <li><a href="/wiki/GJA8" title="GJA8">GJA8</a></li> <li><a href="/wiki/GJD2" title="GJD2">GJA9</a></li> <li><a href="/wiki/GJA10" title="GJA10">GJA10</a></li></ul></li> <li>B <ul><li><a class="mw-selflink selflink">GJB1</a></li> <li><a href="/wiki/GJB2" title="GJB2">GJB2</a></li> <li><a href="/wiki/GJB3" title="GJB3">GJB3</a></li> <li><a href="/wiki/GJB4" title="GJB4">GJB4</a></li> <li><a href="/wiki/GJB5" title="GJB5">GJB5</a></li> <li><a href="/wiki/GJB6" title="GJB6">GJB6</a></li> <li><a href="/wiki/GJB7" title="GJB7">GJB7</a></li></ul></li> <li>C <ul><li><a href="/wiki/GJC1" title="GJC1">GJC1</a></li> <li><a href="/wiki/GJC2" title="GJC2">GJC2</a></li> <li><a href="/wiki/GJC3" title="GJC3">GJC3</a></li></ul></li> <li>D <ul><li><a href="/wiki/GJD2" title="GJD2">GJD2</a></li> <li><a href="/wiki/GJD3" title="GJD3">GJD3</a></li> <li><a href="/wiki/GJD4" title="GJD4">GJD4</a></li></ul></li></ul></li> <li><a href="/wiki/Innexin" title="Innexin">Innexin</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr></tbody></table><div></div></td></tr><tr><td colspan="2" class="navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks mw-collapsible mw-collapsed navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="col" class="navbox-title" colspan="2" style="background-color: AntiqueWhite;"><div id="By_gating_mechanism163" style="font-size:114%;margin:0 4em"><i>By gating mechanism</i></div></th></tr><tr><td colspan="2" class="navbox-list navbox-odd" style="width:100%;padding:0;background:transparent;"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th id="Ion_channel_class21" scope="row" class="navbox-group" style="width:15em;text-align:left;"><i>Ion channel class</i></th><td class="navbox-list-with-group navbox-list navbox-odd" style="padding:0;background-color: AntiqueWhite;"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Ligand-gated_ion_channel" title="Ligand-gated ion channel">Ligand-gated</a></li> <li><a href="/wiki/Light-gated_ion_channel" title="Light-gated ion channel">Light-gated</a></li> <li><a href="/wiki/Voltage-gated_ion_channel" title="Voltage-gated ion channel">Voltage-gated</a></li> <li><a href="/wiki/Stretch-activated_ion_channel" class="mw-redirect" title="Stretch-activated ion channel">Stretch-activated</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr></tbody></table><div></div></td></tr><tr><td class="navbox-abovebelow" colspan="2" style="background-color: AntiqueWhite; padding: 0px;"><div><i>see also <a href="/wiki/Template:Channelopathy" title="Template:Channelopathy">disorders</a></i></div></td></tr></tbody></table></div>    </div><noscript><img src="https://login.wikimedia.org/wiki/Special:CentralAutoLogin/start?useformat=desktop&type=1x1&usesul3=0" alt="" width="1" height="1" style="border: none; position: absolute;"></noscript> <div class="printfooter" data-nosnippet="">Retrieved from "<a dir="ltr" href="https://en.wikipedia.org/w/index.php?title=GJB1&oldid=1274282579">https://en.wikipedia.org/w/index.php?title=GJB1&oldid=1274282579</a>"</div></div> <div id="catlinks" class="catlinks" data-mw="interface"><div id="mw-normal-catlinks" class="mw-normal-catlinks"><a 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