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Entry
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- *121013 - GAP JUNCTION PROTEIN, ALPHA-5; GJA5
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- OMIM
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<p>
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<span class="h4">*121013</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/121013">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000265107;t=ENST00000579774" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=2702" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=121013" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000265107;t=ENST00000579774" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_005266,NM_181703" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_181703" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=121013" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=08699&isoform_id=08699_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/GJA5" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/1220303,5007068,6093423,6631083,8928556,15426426,32483412,54695700,54695702,55959367,55959368,119571314,119571315,608785295" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/P36382" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=2702" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000265107;t=ENST00000579774" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=GJA5" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=GJA5" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+2702" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/GJA5" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:2702" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/2702" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr1&hgg_gene=ENST00000579774.3&hgg_start=147756199&hgg_end=147773351&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4279" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:4279" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=121013[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=121013[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000265107" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=GJA5" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=GJA5" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=GJA5" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=GJA5&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA28690" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:4279" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:95716" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/GJA5#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:95716" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/2702/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=2702" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-040407-3" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=GJA5&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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121013
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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GAP JUNCTION PROTEIN, ALPHA-5; GJA5
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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GAP JUNCTION PROTEIN, 40-KD<br />
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CONNEXIN 40; CX40
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=GJA5" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">GJA5</a></em></strong>
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</span>
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</p>
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/1/1038?start=-3&limit=10&highlight=1038">1q21.2</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:147756199-147773351&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">1:147,756,199-147,773,351</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
|
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</th>
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<th>
|
|
Phenotype
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<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=614049,108770" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
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</a>
|
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</span>
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</th>
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<th>
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Phenotype <br /> MIM number
|
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</th>
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<th>
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
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<tr>
|
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<td rowspan="2">
|
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<span class="mim-font">
|
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<a href="/geneMap/1/1038?start=-3&limit=10&highlight=1038">
|
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1q21.2
|
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</a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Atrial fibrillation, familial, 11
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
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<a href="/entry/614049"> 614049 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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<tr>
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<td>
|
|
<span class="mim-font">
|
|
Atrial standstill, digenic (GJA5/SCN5A)
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/108770"> 108770 </a>
|
|
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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|
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</span>
|
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</td>
|
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/121013" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/121013" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="text" class="mim-anchor"></a>
|
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<h4>
|
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|
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<p>Connexin proteins oligomerize to form intercellular channels, called gap junctions, through which ions and small molecules move between adjacent cells. See <a href="/entry/121011">121011</a> for a general discussion of the connexin gene family.</p>
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<p><a href="#8" class="mim-tip-reference" title="Kanter, H. L., Saffitz, J. E., Beyer, E. C. <strong>Cardiac myocytes express multiple gap junction proteins.</strong> Circ. Res. 70: 438-444, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1310450/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1310450</a>] [<a href="https://doi.org/10.1161/01.res.70.2.438" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1310450">Kanter et al. (1992)</a> demonstrated that canine ventricular myocytes express 3 distinct gap junction proteins, Cx40, Cx43 (GJA1; <a href="/entry/121013">121013</a>), and Cx45. <a href="#9" class="mim-tip-reference" title="Kanter, H. L., Saffitz, J. E., Beyer, E. C. <strong>Molecular cloning of two human cardiac gap junction proteins, connexin40 and connexin45.</strong> J. Molec. Cell. Cardiol. 26: 861-868, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7966354/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7966354</a>] [<a href="https://doi.org/10.1006/jmcc.1994.1103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7966354">Kanter et al. (1994)</a> used PCR with primers based on rat and dog Cx40 to clone human CX40. The CX40 gene encodes a predicted 358-amino acid protein whose sequence is 82% identical to that of the rat and mouse CX40 protein. Northern blot analysis showed that CX40 mRNA is expressed as an approximately 3.3-kb transcript in ventricular myocardium. In immunofluorescence studies, CX40 localized to intercalated disc regions of the left ventricle, which join cardiac myocytes and contain gap junctions. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7966354+1310450" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Kaba, R. A., Coppen, S. R., Dupont, E., Skepper, J. N., Elneil, S., Haw, M. P., Pepper, J. R., Yacoub, M. H., Rothery, S., Severs, N. J. <strong>Comparison of connexin 43, 40 and 45 expression patterns in the developing human and mouse hearts.</strong> Cell Commun. Adhes. 8: 339-343, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12064615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12064615</a>] [<a href="https://doi.org/10.3109/15419060109080750" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12064615">Kaba et al. (2001)</a> noted that cardiac myocytes are electrically coupled via gap junctions. Immunohistochemical staining of embryonic mouse and human fetal hearts localized CX40 at the superficial zones of trabeculae in developing ventricles. As development progressed, CX40 became largely confined to the conduction system. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12064615" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By searching EST databases, <a href="#2" class="mim-tip-reference" title="Dupays, L., Mazurais, D., Rucker-Martin, C., Calmels, T., Bernot, D., Cronier, L., Malassine, A., Gros, D., Theveniau-Ruissy, M. <strong>Genomic organization and alternative transcripts of the human connexin40 gene.</strong> Gene 305: 79-90, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12594044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12594044</a>] [<a href="https://doi.org/10.1016/s0378-1119(02)01229-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12594044">Dupays et al. (2003)</a> identified 2 CX40 splice variants that differed only in the 5-prime untranslated region. RT-PCR detected expression of the transcript utilizing exon 1A in endothelial cells, and the transcript utilizing exon 1B in normal placental cytotrophoblasts and in malignant cytotrophoblastic cell lines. Both transcripts were expressed in right atrial appendages and in all heart regions investigated, with higher levels in atrium. Transcripts including exon 1A predominated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12594044" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Dupays, L., Mazurais, D., Rucker-Martin, C., Calmels, T., Bernot, D., Cronier, L., Malassine, A., Gros, D., Theveniau-Ruissy, M. <strong>Genomic organization and alternative transcripts of the human connexin40 gene.</strong> Gene 305: 79-90, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12594044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12594044</a>] [<a href="https://doi.org/10.1016/s0378-1119(02)01229-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12594044">Dupays et al. (2003)</a> determined that the CX40 gene contains 3 exons, which they designated 1A, 1B, and 2. Exons 1A and 1B are alternate 5-prime untranslated regions that appear to induce cell type-specific expression, and exon 2 is the coding exon. The entire gene spans about 25 kb. The DNA sequence upstream of exon 1A contains 7 SP1 (<a href="/entry/189906">189906</a>)-binding sites and potential binding sites for transcription factors that control vascular gene expression, such as ETS1 (<a href="/entry/164720">164720</a>) and GATA (see <a href="/entry/305371">305371</a>), but no TATA or CAAT box. The region upstream of exon 1B is preceded by 3 CAAT boxes, 2 SP1-binding sites, and multiple binding sites for the basal transcription factors AP1 (see Jun, <a href="/entry/165160">165160</a>) and AP4 (<a href="/entry/600743">600743</a>). <a href="#9" class="mim-tip-reference" title="Kanter, H. L., Saffitz, J. E., Beyer, E. C. <strong>Molecular cloning of two human cardiac gap junction proteins, connexin40 and connexin45.</strong> J. Molec. Cell. Cardiol. 26: 861-868, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7966354/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7966354</a>] [<a href="https://doi.org/10.1006/jmcc.1994.1103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7966354">Kanter et al. (1994)</a> had noted 1 coding exon and a 5-prime untranslated exon, corresponding to exon 1A, in the CX40 genomic sequence. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7966354+12594044" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Seul, K. H., Tadros, P. N., Beyer, E. C. <strong>Mouse connexin40: gene structure and promoter analysis.</strong> Genomics 46: 120-126, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9403066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9403066</a>] [<a href="https://doi.org/10.1006/geno.1997.5025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9403066">Seul et al. (1997)</a> characterized the structure of the mouse Cx40 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9403066" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#15" class="mim-tip-reference" title="Willecke, K., Jungbluth, S., Dahl, E., Hennemann, H., Heynkes, R., Grzeschik, K.-H. <strong>Six genes of the human connexin gene family coding for gap junctional proteins are assigned to four different human chromosomes.</strong> Europ. J. Cell Biol. 53: 275-280, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1964417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1964417</a>]" pmid="1964417">Willecke et al. (1990)</a> used a mouse cDNA probe in Southern analysis of mouse-human somatic cell hybrids to map the human CX40 and CX37 (GJA4) genes to 1pter-q12. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1964417" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By fluorescence in situ hybridization, <a href="#3" class="mim-tip-reference" title="Gelb, B. D., Zhang, J., Cotter, P. D., Gershin, I. F., Desnick, R. J. <strong>Physical mapping of the human connexin 40 (GJA5) flavin-containing monooxygenase 5, and natriuretic peptide receptor A genes on 1q21.</strong> Genomics 39: 409-411, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9119381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9119381</a>] [<a href="https://doi.org/10.1006/geno.1996.4516" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9119381">Gelb et al. (1997)</a> mapped the GJA5 gene to chromosome 1q21.1 in a region that shows homology of synteny with mouse chromosome 3, where the mouse Gja5 gene maps. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9119381" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The migration of lymphocytes from the circulation into tissues involves a number of adhesion molecules and the expression of new molecules. Gap junctions facilitate cell-to-cell adhesion and provide pathways for direct intercellular communication. <a href="#11" class="mim-tip-reference" title="Oviedo-Orta, E., Hoy, T., Evans, W. H. <strong>Intercellular communication in the immune system: differential expression of connexin40 and 43, and perturbation of gap junction channel functions in peripheral blood and tonsil human lymphocyte subpopulations.</strong> Immunology 99: 578-590, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10792506/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10792506</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10792506[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1046/j.1365-2567.2000.00991.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10792506">Oviedo-Orta et al. (2000)</a> noted that GJA1 is expressed in a number of lymphoid organs. By RT-PCR, Western blot, and flow cytometric analyses, they showed that lymphocytes express GJA1 and GJA5, but not GJB2 (<a href="/entry/121011">121011</a>), GJB1 (<a href="/entry/304040">304040</a>), GJA4 (<a href="/entry/121012">121012</a>), or GJA7 (<a href="/entry/608655">608655</a>); GJA5 expression was restricted to tonsillar T and B lymphocytes. Flow cytometric analysis showed that GJA1 and GJA5 expression increases after mitogenic stimulation. Extracellular connexin mimetic peptide blocked dye transfer between lymphocyte subpopulations, and gap junction inhibitors decreased the production of IgM in cocultured T and B lymphocytes. The results identified gap junction proteins as important cell surface components that modulate immune responses. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10792506" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#5" class="mim-tip-reference" title="Groenewegen, W. A., Firouzi, M., Bezzina, C. R., Vliex, S., van Langen, I. M., Sandkuijl, L., Smits, J. P., Hulsbeek, M., Rook, M. B., Jongsma, H. J., Wilde, A. A. <strong>A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill.</strong> Circ. Res. 92: 14-22, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12522116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12522116</a>] [<a href="https://doi.org/10.1161/01.res.0000050585.07097.d7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12522116">Groenewegen et al. (2003)</a> reported a family in which 1 deceased and 3 living members had atrial standstill (ATRST1; <a href="/entry/108770">108770</a>). They identified a mutation (D1275N; <a href="/entry/600163#0034">600163.0034</a>) in the SCN5A gene in all 3 affected living members and in 5 unaffected members; the deceased member was an obligate carrier. Eight family members were found to be homozygous for 2 closely linked polymorphisms within regulatory regions of the GJA5 gene: a -44G-A transition and a 71A-G transition. Only the 3 affected living members coinherited the SCN5A mutation and the 2 rare GJA5 polymorphisms. Functional analysis demonstrated a 65% reduction in promoter activity with the rare -44A/+71G GJA5 haplotype compared to the more common -44G/+71A haplotype. <a href="#5" class="mim-tip-reference" title="Groenewegen, W. A., Firouzi, M., Bezzina, C. R., Vliex, S., van Langen, I. M., Sandkuijl, L., Smits, J. P., Hulsbeek, M., Rook, M. B., Jongsma, H. J., Wilde, A. A. <strong>A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill.</strong> Circ. Res. 92: 14-22, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12522116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12522116</a>] [<a href="https://doi.org/10.1161/01.res.0000050585.07097.d7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12522116">Groenewegen et al. (2003)</a> proposed that atrial standstill in this family resulted from coinheritance of the SCN5A mutation and the rare GJA5 polymorphisms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12522116" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Japanese family in which an 11-year-old boy had sick sinus syndrome that progressed to atrial standstill, <a href="#10" class="mim-tip-reference" title="Makita, N., Sasaki, K., Groenewegen, W. A., Yokota, T., Yokoshiki, H., Murakami, T., Tsutsui, H. <strong>Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms.</strong> Heart Rhythm 2: 1128-1134, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16188595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16188595</a>] [<a href="https://doi.org/10.1016/j.hrthm.2005.06.032" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16188595">Makita et al. (2005)</a> analyzed 3 cardiac ion channel genes previously associated with atrial standstill, atrial fibrillation, or sick sinus syndrome: SCN5A, HCN4 (<a href="/entry/605206">605206</a>), and GJA5. No mutations were found in HCN4, but the proband and his asymptomatic father were heterozygous for a missense mutation in SCN5A (L212P; <a href="/entry/600163#0048">600163.0048</a>). In addition, the proband and his unaffected mother and maternal grandmother were all heterozygous for the same 2 rare GJA5 polymorphisms identified by <a href="#5" class="mim-tip-reference" title="Groenewegen, W. A., Firouzi, M., Bezzina, C. R., Vliex, S., van Langen, I. M., Sandkuijl, L., Smits, J. P., Hulsbeek, M., Rook, M. B., Jongsma, H. J., Wilde, A. A. <strong>A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill.</strong> Circ. Res. 92: 14-22, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12522116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12522116</a>] [<a href="https://doi.org/10.1161/01.res.0000050585.07097.d7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12522116">Groenewegen et al. (2003)</a> in atrial standstill patients, -44A/+71G. <a href="#10" class="mim-tip-reference" title="Makita, N., Sasaki, K., Groenewegen, W. A., Yokota, T., Yokoshiki, H., Murakami, T., Tsutsui, H. <strong>Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms.</strong> Heart Rhythm 2: 1128-1134, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16188595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16188595</a>] [<a href="https://doi.org/10.1016/j.hrthm.2005.06.032" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16188595">Makita et al. (2005)</a> suggested that defects in SCN5A underlie atrial standstill, and that coinheritance of GJA5 polymorphisms represents a possible genetic modifier of the clinical manifestations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12522116+16188595" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Familial Atrial Fibrillation 11</em></strong></p><p>
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<a href="#4" class="mim-tip-reference" title="Gollob, M. H., Jones, D. L., Krahn, A. D., Danis, L., Gong, X.-Q., Shao, Q., Liu, X., Veinot, J. P., Tang, A. S. L., Stewart, A. F. R., Tesson, F., Klein, G. J., Yee, R., Skanes, A. C., Guiraudon, G. M., Ebihara, L., Bai, D. <strong>Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation.</strong> New Eng. J. Med. 354: 2677-2688, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16790700/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16790700</a>] [<a href="https://doi.org/10.1056/NEJMoa052800" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16790700">Gollob et al. (2006)</a> presented evidence that tissue-specific mutations in the GJA5 gene may predispose the atria to fibrillation. They sequenced the GJA5 gene from genomic DNA isolated from resected cardiac tissue and peripheral lymphocytes from 15 patients with idiopathic atrial fibrillation (ATFB11; <a href="/entry/614049">614049</a>). Four novel heterozygous missense mutations (see, e.g., <a href="#0001">121013.0001</a>-<a href="#0002">121013.0002</a>) were identified in 4 of the 15 patients. In 3 patients, the mutations were found in cardiac tissue specimens but not in lymphocytes, indicating a somatic source of the genetic defects. In the fourth patient, the sequence variant was detected in both cardiac tissue and lymphocytes, suggesting a germline origin. Analysis of the expression of mutant proteins revealed impaired intracellular transport or reduced intercellular electrical coupling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16790700" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#18" class="mim-tip-reference" title="Yang, Y.-Q., Zhang, X.-L., Wang, X.-H., Tan, H.-W., Shi, H.-F., Jiang, W.-F., Fang, W.-Y., Liu, X. <strong>Connexin40 nonsense mutation in familial atrial fibrillation.</strong> Int. J. Molec. Med. 26: 605-610, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20818502/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20818502</a>] [<a href="https://doi.org/10.3892/ijmm_00000505" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20818502">Yang et al. (2010)</a> performed direct sequencing of the coding region of the GJA5 gene in 126 unrelated Chinese probands with familial atrial fibrillation (AF) and identified a heterozygous nonsense mutation in 1 proband (<a href="#0003">121013.0003</a>) that segregated with disease in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20818502" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Yang, Y.-Q., Liu, X., Zhang, X.-L., Wang, X.-H., Tan, H.-W., Shi, H.-F., Jiang, W.-F., Fang, W.-Y. <strong>Novel connexin40 missense mutations in patients with familial atrial fibrillation.</strong> Europace 12: 1421-1427, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20650941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20650941</a>] [<a href="https://doi.org/10.1093/europace/euq274" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20650941">Yang et al. (2010)</a> analyzed the GJA5 gene in 218 unrelated Chinese probands with AF and identified 3 heterozygous missense mutations in 3 probands (<a href="#0004">121013.0004</a>-<a href="#0006">121013.0006</a>, respectively). The mutations, which all occurred at evolutionarily conserved residues, segregated with disease in each family and were not found in 200 ethnically matched controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20650941" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Wirka, R. C., Gore, S., Van Wagoner, D. R., Arking, D. E., Lubitz, S. A., Lunetta, K. L., Benjamin, E. J., Alonso, A., Ellinor, P. T., Barnard, J., Chung, M. K., Smith, J. D. <strong>A common connexin-40 gene promoter variant affects connexin-40 expression in human atria and is associated with atrial fibrillation.</strong> Circ. Arrhythm. Electrophysiol. 4: 87-93, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21076161/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21076161</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21076161[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1161/CIRCEP.110.959726" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21076161">Wirka et al. (2011)</a> tested 8 SNPs within the CX40 region for association with CX40 levels measured in atrial tissue from 61 individuals who had undergone cardiac surgery, 85.2% of whom had a history of AF and 49.2% of whom had AF at the time of surgery. The previously described CX40 promoter 'A' SNP <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs35594137;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs35594137</a> (-44G-A), which was in perfect linkage disequilibrium with the SNP <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1152588;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1152588</a> (71A-G) in exon 1A, was not associated with CX40 mRNA levels. However, a common SNP <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs10465885;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs10465885</a> located within the TATA box of an alternative CX40 promoter (promoter 'B') in exon 1B was strongly associated with CX40 mRNA expression (p less than 0.0001) and displayed strong and consistent allelic expression imbalance in human atrial tissue. A promoter-luciferase assay in culture mouse cardiomyocytes demonstrated reduced activity of the promoter containing the minor allele of this SNP (p less than 0.0001). Testing of both <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs35594137;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs35594137</a> and <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs10465885;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs10465885</a> for association with early-onset lone AF (onset at less than 60 years of age) in 384 cases and 3,010 controls revealed that the promoter B SNP <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs10465885;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs10465885</a> was associated with early-onset lone AF (odds ratio, 1.18; p = 0.046), and metaanalysis of 2 additional early-onset lone AF case-control cohorts confirmed the association (odds ratio, 1.16; p = 0.022) with <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs10465885;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs10465885</a>. The promoter A SNP <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs35594137;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs35594137</a>, however, was not associated with the lone AF phenotype in any of the cohorts studied or in a combined analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21076161" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Sun, Y., Yang, Y.-Q., Gong, X.-Q., Wang, X.-H., Li, R.-G., Tan, H.-W., Liu, X., Fang, W.-Y., Bai, D. <strong>Novel germline GJA5/connexin40 mutations associated with lone atrial fibrillation impair gap junctional intercellular communication.</strong> Hum. Mutat. 34: 603-609, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23348765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23348765</a>] [<a href="https://doi.org/10.1002/humu.22278" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23348765">Sun et al. (2013)</a> analyzed the GJA5 gene in 68 unrelated Chinese patients with isolated AF and identified a heterozygous missense mutation in 1 patient (I75F; <a href="#0007">121013.0007</a>). Dual voltage-clamp electrophysiologic analysis in N2A cells showed that there was no electrical coupling of cell pairs expressing I75F alone, and there was a significant reduction in gap junction coupling conductance when the mutant was coexpressed with wildtype CX40 or CX43 (GJA1; <a href="/entry/121014">121014</a>). Analysis of another AF-linked CX40 mutant, L229M (<a href="#0006">121013.0006</a>), showed no apparent coupling defect when the mutant was expressed alone or together with wildtype CX40, but L229M specifically reduced gap junction coupling when coexpressed with wildtype CX43. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23348765" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Gu, H., Smith, F. C., Taffet, S. M., Delmar, M. <strong>High incidence of cardiac malformations in connexin40-deficient mice.</strong> Circ. Res. 93: 201-206, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12842919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12842919</a>] [<a href="https://doi.org/10.1161/01.RES.0000084852.65396.70" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12842919">Gu et al. (2003)</a> generated Cx40 +/- and -/- mice to study the role of CX40 in cardiac morphogenesis. The overall incidence of cardiac malformations was 18% in heterozygotes and 33% in homozygotes; the malformations were more severe in homozygotes, and the incidence of malformations was even higher (44%) in the offspring of -/- matings. The most common malformations were of conotruncal origin, but endocardial cushion defects and other malformations were also found. <a href="#6" class="mim-tip-reference" title="Gu, H., Smith, F. C., Taffet, S. M., Delmar, M. <strong>High incidence of cardiac malformations in connexin40-deficient mice.</strong> Circ. Res. 93: 201-206, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12842919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12842919</a>] [<a href="https://doi.org/10.1161/01.RES.0000084852.65396.70" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12842919">Gu et al. (2003)</a> concluded that CX40 is not essential for cardiogenesis, but its absence or limited expression increases the probability of cardiac malformations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12842919" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>To study the role of gap junction communication in cardiac conduction, <a href="#13" class="mim-tip-reference" title="Simon, A. M., Goodenough, D. A., Paul, D. L. <strong>Mice lacking connexin40 have cardiac conduction abnormalities characteristic of atrioventricular block and bundle branch block.</strong> Curr. Biol. 8: 295-298, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9501069/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9501069</a>] [<a href="https://doi.org/10.1016/s0960-9822(98)70113-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9501069">Simon et al. (1998)</a> generated Cx40 null mice. Using electrocardiographic analysis, they showed that the null mice had cardiac conduction abnormalities characteristic of first-degree atrioventricular block with associated bundle branch block. <a href="#13" class="mim-tip-reference" title="Simon, A. M., Goodenough, D. A., Paul, D. L. <strong>Mice lacking connexin40 have cardiac conduction abnormalities characteristic of atrioventricular block and bundle branch block.</strong> Curr. Biol. 8: 295-298, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9501069/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9501069</a>] [<a href="https://doi.org/10.1016/s0960-9822(98)70113-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9501069">Simon et al. (1998)</a> concluded that gap junctions are essential for the rapid conduction of impulses in the His-Purkinje system. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9501069" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121434557 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434557;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121434557?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121434557" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121434557" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In both atrial tissue and lymphocytes from a 41-year-old male with atrial fibrillation (ATFB11; <a href="/entry/614049">614049</a>), <a href="#4" class="mim-tip-reference" title="Gollob, M. H., Jones, D. L., Krahn, A. D., Danis, L., Gong, X.-Q., Shao, Q., Liu, X., Veinot, J. P., Tang, A. S. L., Stewart, A. F. R., Tesson, F., Klein, G. J., Yee, R., Skanes, A. C., Guiraudon, G. M., Ebihara, L., Bai, D. <strong>Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation.</strong> New Eng. J. Med. 354: 2677-2688, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16790700/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16790700</a>] [<a href="https://doi.org/10.1056/NEJMoa052800" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16790700">Gollob et al. (2006)</a> identified a 286G-T transversion in the GJA5 gene, predicted to cause an ala96-to-ser (A96S) substitution. The variant was absent in the patient's 3 sibs and wife but was present in his 2 sons, who had no history of atrial fibrillation; however, on surface electrocardiography, the carrier sons had an abnormally prolonged P-wave duration (more than 120 ms), a known predictor of atrial fibrillation (<a href="#1" class="mim-tip-reference" title="Dilaveris, P. E., Gialafos, E. J., Sideris, S. K., Theopistou, A. M., Andrikopoulos, G. K., Kyriakidis, M., Gialafos, J. E., Toutouzas, P. K. <strong>Simple electrocardiographic markers for the prediction of paroxysmal idiopathic atrial fibrillation.</strong> Am. Heart J. 135: 733-738, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9588401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9588401</a>] [<a href="https://doi.org/10.1016/s0002-8703(98)70030-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9588401">Dilaveris et al., 1998</a>). The variant was also identified in lymphocyte DNA from a 48-year-old control subject (population frequency, 0.6%). <a href="#4" class="mim-tip-reference" title="Gollob, M. H., Jones, D. L., Krahn, A. D., Danis, L., Gong, X.-Q., Shao, Q., Liu, X., Veinot, J. P., Tang, A. S. L., Stewart, A. F. R., Tesson, F., Klein, G. J., Yee, R., Skanes, A. C., Guiraudon, G. M., Ebihara, L., Bai, D. <strong>Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation.</strong> New Eng. J. Med. 354: 2677-2688, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16790700/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16790700</a>] [<a href="https://doi.org/10.1056/NEJMoa052800" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16790700">Gollob et al. (2006)</a> noted that long-term follow-up of asymptomatic persons carrying the ser96 allele was needed to determine the clinical significance of the variant. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9588401+16790700" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121434558 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434558;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121434558" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121434558" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 unrelated subjects with atrial fibrillation (ATFB11; <a href="/entry/614049">614049</a>), <a href="#4" class="mim-tip-reference" title="Gollob, M. H., Jones, D. L., Krahn, A. D., Danis, L., Gong, X.-Q., Shao, Q., Liu, X., Veinot, J. P., Tang, A. S. L., Stewart, A. F. R., Tesson, F., Klein, G. J., Yee, R., Skanes, A. C., Guiraudon, G. M., Ebihara, L., Bai, D. <strong>Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation.</strong> New Eng. J. Med. 354: 2677-2688, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16790700/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16790700</a>] [<a href="https://doi.org/10.1056/NEJMoa052800" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16790700">Gollob et al. (2006)</a> identified a 262C-T transition in the GJA5 gene, predicted to cause a pro88-to-ser (P88S) substitution. The mutation was detected in atrial tissue but not in lymphocytes, indicating a probable somatic mutation. <a href="#4" class="mim-tip-reference" title="Gollob, M. H., Jones, D. L., Krahn, A. D., Danis, L., Gong, X.-Q., Shao, Q., Liu, X., Veinot, J. P., Tang, A. S. L., Stewart, A. F. R., Tesson, F., Klein, G. J., Yee, R., Skanes, A. C., Guiraudon, G. M., Ebihara, L., Bai, D. <strong>Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation.</strong> New Eng. J. Med. 354: 2677-2688, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16790700/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16790700</a>] [<a href="https://doi.org/10.1056/NEJMoa052800" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16790700">Gollob et al. (2006)</a> noted that the pro88 residue, located in the second transmembrane domain of connexin-40, is highly conserved in mammalian and zebrafish connexins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16790700" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 ATRIAL FIBRILLATION, FAMILIAL, 11</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906612 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906612;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387906612" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs387906612" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 7 affected members of a Chinese family with paroxysmal or persistent atrial fibrillation (ATFB11; <a href="/entry/614049">614049</a>), <a href="#18" class="mim-tip-reference" title="Yang, Y.-Q., Zhang, X.-L., Wang, X.-H., Tan, H.-W., Shi, H.-F., Jiang, W.-F., Fang, W.-Y., Liu, X. <strong>Connexin40 nonsense mutation in familial atrial fibrillation.</strong> Int. J. Molec. Med. 26: 605-610, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20818502/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20818502</a>] [<a href="https://doi.org/10.3892/ijmm_00000505" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20818502">Yang et al. (2010)</a> identified heterozygosity for a 145C-T transition in the GJA5 gene, resulting in a gln49-to-ter (Q49X) substitution that was predicted to cause premature termination and deletion of 3 transmembrane domains, 3 loop regions, and the C terminus. The mutation was detected in 6 additional affected family members, but was not found in 6 unaffected family members or in 200 ethnically matched controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20818502" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 ATRIAL FIBRILLATION, FAMILIAL, 11</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs387906613 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906613;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs387906613?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387906613" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs387906613" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000022513" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022513" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022513</a>
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<p>In affected members of a 3-generation Chinese family segregating autosomal dominant atrial fibrillation (ATFB11; <a href="/entry/614049">614049</a>), <a href="#18" class="mim-tip-reference" title="Yang, Y.-Q., Zhang, X.-L., Wang, X.-H., Tan, H.-W., Shi, H.-F., Jiang, W.-F., Fang, W.-Y., Liu, X. <strong>Connexin40 nonsense mutation in familial atrial fibrillation.</strong> Int. J. Molec. Med. 26: 605-610, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20818502/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20818502</a>] [<a href="https://doi.org/10.3892/ijmm_00000505" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20818502">Yang et al. (2010)</a> identified heterozygosity for a 253G-A transition in the GJA5 gene, resulting in a val85-to-ile (V85I) substitution at a highly conserved residue within the second transmembrane domain. The mutation was not found in 4 unaffected relatives or in 200 ethnically matched controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20818502" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 ATRIAL FIBRILLATION, FAMILIAL, 11</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906614 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906614;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387906614" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs387906614" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000022514" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022514" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022514</a>
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<p>In affected members of a 2-generation Chinese family segregating autosomal dominant atrial fibrillation (ATFB11; <a href="/entry/614049">614049</a>), <a href="#18" class="mim-tip-reference" title="Yang, Y.-Q., Zhang, X.-L., Wang, X.-H., Tan, H.-W., Shi, H.-F., Jiang, W.-F., Fang, W.-Y., Liu, X. <strong>Connexin40 nonsense mutation in familial atrial fibrillation.</strong> Int. J. Molec. Med. 26: 605-610, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20818502/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20818502</a>] [<a href="https://doi.org/10.3892/ijmm_00000505" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20818502">Yang et al. (2010)</a> identified heterozygosity for a 661C-A transversion in the GJA5 gene, resulting in a leu221-to-ile (L221I) substitution at a highly conserved residue within the fourth transmembrane domain. The mutation was not found in 4 unaffected relatives or in 200 ethnically matched controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20818502" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 ATRIAL FIBRILLATION, FAMILIAL, 11</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906615 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906615;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387906615" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs387906615" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000022515" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022515" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022515</a>
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<p>In affected members of a 3-generation Chinese family segregating autosomal dominant atrial fibrillation (ATFB11; <a href="/entry/614049">614049</a>), <a href="#18" class="mim-tip-reference" title="Yang, Y.-Q., Zhang, X.-L., Wang, X.-H., Tan, H.-W., Shi, H.-F., Jiang, W.-F., Fang, W.-Y., Liu, X. <strong>Connexin40 nonsense mutation in familial atrial fibrillation.</strong> Int. J. Molec. Med. 26: 605-610, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20818502/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20818502</a>] [<a href="https://doi.org/10.3892/ijmm_00000505" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20818502">Yang et al. (2010)</a> identified heterozygosity for a 685C-A transversion in the GJA5 gene, resulting in a leu229-to-met (L229M) substitution at a highly conserved residue within the cytoplasmic region near the fourth transmembrane domain. The mutation was not found in 4 unaffected relatives or in 200 ethnically matched controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20818502" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Sun, Y., Yang, Y.-Q., Gong, X.-Q., Wang, X.-H., Li, R.-G., Tan, H.-W., Liu, X., Fang, W.-Y., Bai, D. <strong>Novel germline GJA5/connexin40 mutations associated with lone atrial fibrillation impair gap junctional intercellular communication.</strong> Hum. Mutat. 34: 603-609, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23348765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23348765</a>] [<a href="https://doi.org/10.1002/humu.22278" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23348765">Sun et al. (2013)</a> performed dual voltage-clamp electrophysiologic analysis in N2A cells and observed no impairment in junctional conductance when the L229M mutant was expressed alone or together with wildtype CX40. However, there was a significant reduction in junctional conductance when L229M was coexpressed with CX43 (GJA1; <a href="/entry/121014">121014</a>), suggesting a dominant-negative effect of the mutant on wildtype CX43 gap junction function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23348765" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 ATRIAL FIBRILLATION, FAMILIAL, 11</strong>
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GJA5, ILE75PHE
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587777304 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777304;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587777304" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs587777304" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000114757 OR RCV002515789" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000114757, RCV002515789" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000114757...</a>
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<p>In a 42-year-old Chinese woman with isolated atrial fibrillation (ATFB11; <a href="/entry/614049">614049</a>), <a href="#14" class="mim-tip-reference" title="Sun, Y., Yang, Y.-Q., Gong, X.-Q., Wang, X.-H., Li, R.-G., Tan, H.-W., Liu, X., Fang, W.-Y., Bai, D. <strong>Novel germline GJA5/connexin40 mutations associated with lone atrial fibrillation impair gap junctional intercellular communication.</strong> Hum. Mutat. 34: 603-609, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23348765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23348765</a>] [<a href="https://doi.org/10.1002/humu.22278" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23348765">Sun et al. (2013)</a> identified heterozygosity for a c.223A-T transversion in the GJA5 gene, resulting in an ile75-to-phe (I75F) substitution at a highly conserved residue located at the boundary of the first extracellular domain and the second transmembrane domain. The mutation was also detected in the patient's affected father but was not found in unaffected family members, in 200 controls, or in the dbSNP database. Dual voltage-clamp electrophysiologic analysis in N2A cells demonstrated no electrical coupling of cell pairs expressing the I75F mutant alone, and there was a significant reduction in gap junction coupling conductance when the mutant was coexpressed with wildtype CX40 or CX43 (GJA1; <a href="/entry/121014">121014</a>). At the single-channel level, the I75F mutant reduced the total number of active channels without changing conductance of individual gap junction channels, and also altered transjunctional voltage-dependent gating properties. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23348765" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Dilaveris1998" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1016/s0002-8703(98)70030-4" target="_blank">Full Text</a>]
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Dupays, L., Mazurais, D., Rucker-Martin, C., Calmels, T., Bernot, D., Cronier, L., Malassine, A., Gros, D., Theveniau-Ruissy, M.
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[<a href="https://doi.org/10.1016/s0378-1119(02)01229-5" target="_blank">Full Text</a>]
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<a id="Gelb1997" class="mim-anchor"></a>
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Gelb, B. D., Zhang, J., Cotter, P. D., Gershin, I. F., Desnick, R. J.
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<strong>Physical mapping of the human connexin 40 (GJA5) flavin-containing monooxygenase 5, and natriuretic peptide receptor A genes on 1q21.</strong>
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Genomics 39: 409-411, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9119381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9119381</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9119381" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1996.4516" target="_blank">Full Text</a>]
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<a id="Gollob2006" class="mim-anchor"></a>
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Gollob, M. H., Jones, D. L., Krahn, A. D., Danis, L., Gong, X.-Q., Shao, Q., Liu, X., Veinot, J. P., Tang, A. S. L., Stewart, A. F. R., Tesson, F., Klein, G. J., Yee, R., Skanes, A. C., Guiraudon, G. M., Ebihara, L., Bai, D.
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<strong>Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16790700/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16790700</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16790700" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJMoa052800" target="_blank">Full Text</a>]
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Groenewegen, W. A., Firouzi, M., Bezzina, C. R., Vliex, S., van Langen, I. M., Sandkuijl, L., Smits, J. P., Hulsbeek, M., Rook, M. B., Jongsma, H. J., Wilde, A. A.
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<strong>A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill.</strong>
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Circ. Res. 92: 14-22, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12522116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12522116</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12522116" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1161/01.res.0000050585.07097.d7" target="_blank">Full Text</a>]
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Gu, H., Smith, F. C., Taffet, S. M., Delmar, M.
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<strong>High incidence of cardiac malformations in connexin40-deficient mice.</strong>
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Circ. Res. 93: 201-206, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12842919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12842919</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12842919" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1161/01.RES.0000084852.65396.70" target="_blank">Full Text</a>]
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Kaba, R. A., Coppen, S. R., Dupont, E., Skepper, J. N., Elneil, S., Haw, M. P., Pepper, J. R., Yacoub, M. H., Rothery, S., Severs, N. J.
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<strong>Comparison of connexin 43, 40 and 45 expression patterns in the developing human and mouse hearts.</strong>
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Cell Commun. Adhes. 8: 339-343, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12064615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12064615</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12064615" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/15419060109080750" target="_blank">Full Text</a>]
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<a id="Kanter1992" class="mim-anchor"></a>
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Kanter, H. L., Saffitz, J. E., Beyer, E. C.
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<strong>Cardiac myocytes express multiple gap junction proteins.</strong>
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Circ. Res. 70: 438-444, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1310450/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1310450</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1310450" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1161/01.res.70.2.438" target="_blank">Full Text</a>]
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Kanter, H. L., Saffitz, J. E., Beyer, E. C.
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<strong>Molecular cloning of two human cardiac gap junction proteins, connexin40 and connexin45.</strong>
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J. Molec. Cell. Cardiol. 26: 861-868, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7966354/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7966354</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7966354" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/jmcc.1994.1103" target="_blank">Full Text</a>]
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<a id="Makita2005" class="mim-anchor"></a>
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Makita, N., Sasaki, K., Groenewegen, W. A., Yokota, T., Yokoshiki, H., Murakami, T., Tsutsui, H.
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<strong>Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms.</strong>
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Heart Rhythm 2: 1128-1134, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16188595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16188595</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16188595" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.hrthm.2005.06.032" target="_blank">Full Text</a>]
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Oviedo-Orta, E., Hoy, T., Evans, W. H.
|
|
<strong>Intercellular communication in the immune system: differential expression of connexin40 and 43, and perturbation of gap junction channel functions in peripheral blood and tonsil human lymphocyte subpopulations.</strong>
|
|
Immunology 99: 578-590, 2000.
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|
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10792506/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10792506</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10792506[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10792506" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1046/j.1365-2567.2000.00991.x" target="_blank">Full Text</a>]
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</p>
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</div>
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|
</li>
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<li>
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|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Seul1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Seul, K. H., Tadros, P. N., Beyer, E. C.
|
|
<strong>Mouse connexin40: gene structure and promoter analysis.</strong>
|
|
Genomics 46: 120-126, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9403066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9403066</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9403066" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1997.5025" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="13" class="mim-anchor"></a>
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|
<a id="Simon1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Simon, A. M., Goodenough, D. A., Paul, D. L.
|
|
<strong>Mice lacking connexin40 have cardiac conduction abnormalities characteristic of atrioventricular block and bundle branch block.</strong>
|
|
Curr. Biol. 8: 295-298, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9501069/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9501069</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9501069" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0960-9822(98)70113-7" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="14" class="mim-anchor"></a>
|
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<a id="Sun2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Sun, Y., Yang, Y.-Q., Gong, X.-Q., Wang, X.-H., Li, R.-G., Tan, H.-W., Liu, X., Fang, W.-Y., Bai, D.
|
|
<strong>Novel germline GJA5/connexin40 mutations associated with lone atrial fibrillation impair gap junctional intercellular communication.</strong>
|
|
Hum. Mutat. 34: 603-609, 2013.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23348765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23348765</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23348765" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.22278" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Willecke1990" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Willecke, K., Jungbluth, S., Dahl, E., Hennemann, H., Heynkes, R., Grzeschik, K.-H.
|
|
<strong>Six genes of the human connexin gene family coding for gap junctional proteins are assigned to four different human chromosomes.</strong>
|
|
Europ. J. Cell Biol. 53: 275-280, 1990.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1964417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1964417</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1964417" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="16" class="mim-anchor"></a>
|
|
<a id="Wirka2011" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Wirka, R. C., Gore, S., Van Wagoner, D. R., Arking, D. E., Lubitz, S. A., Lunetta, K. L., Benjamin, E. J., Alonso, A., Ellinor, P. T., Barnard, J., Chung, M. K., Smith, J. D.
|
|
<strong>A common connexin-40 gene promoter variant affects connexin-40 expression in human atria and is associated with atrial fibrillation.</strong>
|
|
Circ. Arrhythm. Electrophysiol. 4: 87-93, 2011.
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|
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|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21076161/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21076161</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21076161[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21076161" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1161/CIRCEP.110.959726" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
|
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<a id="17" class="mim-anchor"></a>
|
|
<a id="Yang2010" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Yang, Y.-Q., Liu, X., Zhang, X.-L., Wang, X.-H., Tan, H.-W., Shi, H.-F., Jiang, W.-F., Fang, W.-Y.
|
|
<strong>Novel connexin40 missense mutations in patients with familial atrial fibrillation.</strong>
|
|
Europace 12: 1421-1427, 2010.
|
|
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20650941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20650941</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20650941" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/europace/euq274" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
|
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<a id="18" class="mim-anchor"></a>
|
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<a id="Yang2010" class="mim-anchor"></a>
|
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<div class="">
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<p class="mim-text-font">
|
|
Yang, Y.-Q., Zhang, X.-L., Wang, X.-H., Tan, H.-W., Shi, H.-F., Jiang, W.-F., Fang, W.-Y., Liu, X.
|
|
<strong>Connexin40 nonsense mutation in familial atrial fibrillation.</strong>
|
|
Int. J. Molec. Med. 26: 605-610, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20818502/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20818502</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20818502" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3892/ijmm_00000505" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
|
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</span>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
Marla J. F. O'Neill - updated : 4/28/2014
|
|
</span>
|
|
</div>
|
|
</div>
|
|
<div class="row collapse" id="mimCollapseContributors">
|
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
Marla J. F. O'Neill - updated : 4/21/2014<br>Marla J. F. O'Neill - updated : 6/10/2011<br>Victor A. McKusick - updated : 6/26/2006<br>Patricia A. Hartz - updated : 8/9/2004<br>Marla J. F. O'Neill - updated : 3/3/2004<br>Patricia A. Hartz - updated : 2/26/2004<br>Paul J. Converse - updated : 6/27/2000<br>Rebekah S. Rasooly - updated : 8/7/1998<br>Victor A. McKusick - updated : 12/18/1997
|
|
</span>
|
|
</div>
|
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</div>
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|
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</div>
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<div>
|
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<a id="creationDate" class="mim-anchor"></a>
|
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<div class="row">
|
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
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<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
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</span>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick : 3/18/1991
|
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</span>
|
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</div>
|
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</div>
|
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</div>
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<div>
|
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<a id="editHistory" class="mim-anchor"></a>
|
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|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="text-nowrap mim-text-font">
|
|
<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
alopez : 07/19/2023
|
|
</span>
|
|
</div>
|
|
</div>
|
|
<div class="row collapse" id="mimCollapseEditHistory">
|
|
<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
carol : 04/29/2014<br>mcolton : 4/28/2014<br>carol : 4/21/2014<br>mcolton : 4/18/2014<br>carol : 4/17/2014<br>carol : 4/7/2014<br>carol : 9/18/2013<br>wwang : 6/20/2011<br>terry : 6/10/2011<br>terry : 6/10/2011<br>carol : 7/30/2008<br>carol : 7/29/2008<br>alopez : 10/3/2007<br>carol : 6/30/2006<br>wwang : 6/28/2006<br>terry : 6/26/2006<br>mgross : 8/10/2004<br>terry : 8/9/2004<br>mgross : 5/13/2004<br>tkritzer : 3/9/2004<br>carol : 3/3/2004<br>alopez : 3/1/2004<br>alopez : 3/1/2004<br>terry : 2/26/2004<br>mgross : 6/27/2000<br>carol : 11/4/1999<br>carol : 8/31/1999<br>psherman : 8/31/1999<br>carol : 8/7/1998<br>mark : 1/5/1998<br>terry : 12/18/1997<br>supermim : 3/16/1992<br>carol : 8/19/1991<br>carol : 3/18/1991
|
|
</span>
|
|
</div>
|
|
</div>
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</div>
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</div>
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</div>
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</div>
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|
<div class="container visible-print-block">
|
|
|
|
<div class="row">
|
|
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|
<div class="col-md-8 col-md-offset-1">
|
|
|
|
<div>
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
<strong>*</strong> 121013
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
GAP JUNCTION PROTEIN, ALPHA-5; GJA5
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
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<div>
|
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<div >
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
GAP JUNCTION PROTEIN, 40-KD<br />
|
|
CONNEXIN 40; CX40
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: GJA5</em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
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<div>
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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: 1q21.2
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 1:147,756,199-147,773,351 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
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|
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
1q21.2
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Atrial fibrillation, familial, 11
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
614049
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Atrial standstill, digenic (GJA5/SCN5A)
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
108770
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Connexin proteins oligomerize to form intercellular channels, called gap junctions, through which ions and small molecules move between adjacent cells. See 121011 for a general discussion of the connexin gene family.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Kanter et al. (1992) demonstrated that canine ventricular myocytes express 3 distinct gap junction proteins, Cx40, Cx43 (GJA1; 121013), and Cx45. Kanter et al. (1994) used PCR with primers based on rat and dog Cx40 to clone human CX40. The CX40 gene encodes a predicted 358-amino acid protein whose sequence is 82% identical to that of the rat and mouse CX40 protein. Northern blot analysis showed that CX40 mRNA is expressed as an approximately 3.3-kb transcript in ventricular myocardium. In immunofluorescence studies, CX40 localized to intercalated disc regions of the left ventricle, which join cardiac myocytes and contain gap junctions. </p><p>Kaba et al. (2001) noted that cardiac myocytes are electrically coupled via gap junctions. Immunohistochemical staining of embryonic mouse and human fetal hearts localized CX40 at the superficial zones of trabeculae in developing ventricles. As development progressed, CX40 became largely confined to the conduction system. </p><p>By searching EST databases, Dupays et al. (2003) identified 2 CX40 splice variants that differed only in the 5-prime untranslated region. RT-PCR detected expression of the transcript utilizing exon 1A in endothelial cells, and the transcript utilizing exon 1B in normal placental cytotrophoblasts and in malignant cytotrophoblastic cell lines. Both transcripts were expressed in right atrial appendages and in all heart regions investigated, with higher levels in atrium. Transcripts including exon 1A predominated. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Dupays et al. (2003) determined that the CX40 gene contains 3 exons, which they designated 1A, 1B, and 2. Exons 1A and 1B are alternate 5-prime untranslated regions that appear to induce cell type-specific expression, and exon 2 is the coding exon. The entire gene spans about 25 kb. The DNA sequence upstream of exon 1A contains 7 SP1 (189906)-binding sites and potential binding sites for transcription factors that control vascular gene expression, such as ETS1 (164720) and GATA (see 305371), but no TATA or CAAT box. The region upstream of exon 1B is preceded by 3 CAAT boxes, 2 SP1-binding sites, and multiple binding sites for the basal transcription factors AP1 (see Jun, 165160) and AP4 (600743). Kanter et al. (1994) had noted 1 coding exon and a 5-prime untranslated exon, corresponding to exon 1A, in the CX40 genomic sequence. </p><p>Seul et al. (1997) characterized the structure of the mouse Cx40 gene. </p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Willecke et al. (1990) used a mouse cDNA probe in Southern analysis of mouse-human somatic cell hybrids to map the human CX40 and CX37 (GJA4) genes to 1pter-q12. </p><p>By fluorescence in situ hybridization, Gelb et al. (1997) mapped the GJA5 gene to chromosome 1q21.1 in a region that shows homology of synteny with mouse chromosome 3, where the mouse Gja5 gene maps. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The migration of lymphocytes from the circulation into tissues involves a number of adhesion molecules and the expression of new molecules. Gap junctions facilitate cell-to-cell adhesion and provide pathways for direct intercellular communication. Oviedo-Orta et al. (2000) noted that GJA1 is expressed in a number of lymphoid organs. By RT-PCR, Western blot, and flow cytometric analyses, they showed that lymphocytes express GJA1 and GJA5, but not GJB2 (121011), GJB1 (304040), GJA4 (121012), or GJA7 (608655); GJA5 expression was restricted to tonsillar T and B lymphocytes. Flow cytometric analysis showed that GJA1 and GJA5 expression increases after mitogenic stimulation. Extracellular connexin mimetic peptide blocked dye transfer between lymphocyte subpopulations, and gap junction inhibitors decreased the production of IgM in cocultured T and B lymphocytes. The results identified gap junction proteins as important cell surface components that modulate immune responses. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Atrial Standstill 1</em></strong></p><p>
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Groenewegen et al. (2003) reported a family in which 1 deceased and 3 living members had atrial standstill (ATRST1; 108770). They identified a mutation (D1275N; 600163.0034) in the SCN5A gene in all 3 affected living members and in 5 unaffected members; the deceased member was an obligate carrier. Eight family members were found to be homozygous for 2 closely linked polymorphisms within regulatory regions of the GJA5 gene: a -44G-A transition and a 71A-G transition. Only the 3 affected living members coinherited the SCN5A mutation and the 2 rare GJA5 polymorphisms. Functional analysis demonstrated a 65% reduction in promoter activity with the rare -44A/+71G GJA5 haplotype compared to the more common -44G/+71A haplotype. Groenewegen et al. (2003) proposed that atrial standstill in this family resulted from coinheritance of the SCN5A mutation and the rare GJA5 polymorphisms. </p><p>In a Japanese family in which an 11-year-old boy had sick sinus syndrome that progressed to atrial standstill, Makita et al. (2005) analyzed 3 cardiac ion channel genes previously associated with atrial standstill, atrial fibrillation, or sick sinus syndrome: SCN5A, HCN4 (605206), and GJA5. No mutations were found in HCN4, but the proband and his asymptomatic father were heterozygous for a missense mutation in SCN5A (L212P; 600163.0048). In addition, the proband and his unaffected mother and maternal grandmother were all heterozygous for the same 2 rare GJA5 polymorphisms identified by Groenewegen et al. (2003) in atrial standstill patients, -44A/+71G. Makita et al. (2005) suggested that defects in SCN5A underlie atrial standstill, and that coinheritance of GJA5 polymorphisms represents a possible genetic modifier of the clinical manifestations. </p><p><strong><em>Familial Atrial Fibrillation 11</em></strong></p><p>
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Gollob et al. (2006) presented evidence that tissue-specific mutations in the GJA5 gene may predispose the atria to fibrillation. They sequenced the GJA5 gene from genomic DNA isolated from resected cardiac tissue and peripheral lymphocytes from 15 patients with idiopathic atrial fibrillation (ATFB11; 614049). Four novel heterozygous missense mutations (see, e.g., 121013.0001-121013.0002) were identified in 4 of the 15 patients. In 3 patients, the mutations were found in cardiac tissue specimens but not in lymphocytes, indicating a somatic source of the genetic defects. In the fourth patient, the sequence variant was detected in both cardiac tissue and lymphocytes, suggesting a germline origin. Analysis of the expression of mutant proteins revealed impaired intracellular transport or reduced intercellular electrical coupling. </p><p>Yang et al. (2010) performed direct sequencing of the coding region of the GJA5 gene in 126 unrelated Chinese probands with familial atrial fibrillation (AF) and identified a heterozygous nonsense mutation in 1 proband (121013.0003) that segregated with disease in the family. </p><p>Yang et al. (2010) analyzed the GJA5 gene in 218 unrelated Chinese probands with AF and identified 3 heterozygous missense mutations in 3 probands (121013.0004-121013.0006, respectively). The mutations, which all occurred at evolutionarily conserved residues, segregated with disease in each family and were not found in 200 ethnically matched controls. </p><p>Wirka et al. (2011) tested 8 SNPs within the CX40 region for association with CX40 levels measured in atrial tissue from 61 individuals who had undergone cardiac surgery, 85.2% of whom had a history of AF and 49.2% of whom had AF at the time of surgery. The previously described CX40 promoter 'A' SNP rs35594137 (-44G-A), which was in perfect linkage disequilibrium with the SNP rs1152588 (71A-G) in exon 1A, was not associated with CX40 mRNA levels. However, a common SNP rs10465885 located within the TATA box of an alternative CX40 promoter (promoter 'B') in exon 1B was strongly associated with CX40 mRNA expression (p less than 0.0001) and displayed strong and consistent allelic expression imbalance in human atrial tissue. A promoter-luciferase assay in culture mouse cardiomyocytes demonstrated reduced activity of the promoter containing the minor allele of this SNP (p less than 0.0001). Testing of both rs35594137 and rs10465885 for association with early-onset lone AF (onset at less than 60 years of age) in 384 cases and 3,010 controls revealed that the promoter B SNP rs10465885 was associated with early-onset lone AF (odds ratio, 1.18; p = 0.046), and metaanalysis of 2 additional early-onset lone AF case-control cohorts confirmed the association (odds ratio, 1.16; p = 0.022) with rs10465885. The promoter A SNP rs35594137, however, was not associated with the lone AF phenotype in any of the cohorts studied or in a combined analysis. </p><p>Sun et al. (2013) analyzed the GJA5 gene in 68 unrelated Chinese patients with isolated AF and identified a heterozygous missense mutation in 1 patient (I75F; 121013.0007). Dual voltage-clamp electrophysiologic analysis in N2A cells showed that there was no electrical coupling of cell pairs expressing I75F alone, and there was a significant reduction in gap junction coupling conductance when the mutant was coexpressed with wildtype CX40 or CX43 (GJA1; 121014). Analysis of another AF-linked CX40 mutant, L229M (121013.0006), showed no apparent coupling defect when the mutant was expressed alone or together with wildtype CX40, but L229M specifically reduced gap junction coupling when coexpressed with wildtype CX43. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Gu et al. (2003) generated Cx40 +/- and -/- mice to study the role of CX40 in cardiac morphogenesis. The overall incidence of cardiac malformations was 18% in heterozygotes and 33% in homozygotes; the malformations were more severe in homozygotes, and the incidence of malformations was even higher (44%) in the offspring of -/- matings. The most common malformations were of conotruncal origin, but endocardial cushion defects and other malformations were also found. Gu et al. (2003) concluded that CX40 is not essential for cardiogenesis, but its absence or limited expression increases the probability of cardiac malformations. </p><p>To study the role of gap junction communication in cardiac conduction, Simon et al. (1998) generated Cx40 null mice. Using electrocardiographic analysis, they showed that the null mice had cardiac conduction abnormalities characteristic of first-degree atrioventricular block with associated bundle branch block. Simon et al. (1998) concluded that gap junctions are essential for the rapid conduction of impulses in the His-Purkinje system. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>7 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 ATRIAL FIBRILLATION, FAMILIAL, 11</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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GJA5, ALA96SER
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<br />
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SNP: rs121434557,
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gnomAD: rs121434557,
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ClinVar: RCV000018521, RCV000487058, RCV001063672, RCV004772830
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In both atrial tissue and lymphocytes from a 41-year-old male with atrial fibrillation (ATFB11; 614049), Gollob et al. (2006) identified a 286G-T transversion in the GJA5 gene, predicted to cause an ala96-to-ser (A96S) substitution. The variant was absent in the patient's 3 sibs and wife but was present in his 2 sons, who had no history of atrial fibrillation; however, on surface electrocardiography, the carrier sons had an abnormally prolonged P-wave duration (more than 120 ms), a known predictor of atrial fibrillation (Dilaveris et al., 1998). The variant was also identified in lymphocyte DNA from a 48-year-old control subject (population frequency, 0.6%). Gollob et al. (2006) noted that long-term follow-up of asymptomatic persons carrying the ser96 allele was needed to determine the clinical significance of the variant. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 ATRIAL FIBRILLATION, SOMATIC</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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GJA5, PRO88SER
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<br />
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SNP: rs121434558,
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ClinVar: RCV000018522
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 unrelated subjects with atrial fibrillation (ATFB11; 614049), Gollob et al. (2006) identified a 262C-T transition in the GJA5 gene, predicted to cause a pro88-to-ser (P88S) substitution. The mutation was detected in atrial tissue but not in lymphocytes, indicating a probable somatic mutation. Gollob et al. (2006) noted that the pro88 residue, located in the second transmembrane domain of connexin-40, is highly conserved in mammalian and zebrafish connexins. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 ATRIAL FIBRILLATION, FAMILIAL, 11</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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GJA5, GLN49TER
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<br />
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SNP: rs387906612,
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ClinVar: RCV000022512
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 7 affected members of a Chinese family with paroxysmal or persistent atrial fibrillation (ATFB11; 614049), Yang et al. (2010) identified heterozygosity for a 145C-T transition in the GJA5 gene, resulting in a gln49-to-ter (Q49X) substitution that was predicted to cause premature termination and deletion of 3 transmembrane domains, 3 loop regions, and the C terminus. The mutation was detected in 6 additional affected family members, but was not found in 6 unaffected family members or in 200 ethnically matched controls. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 ATRIAL FIBRILLATION, FAMILIAL, 11</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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GJA5, VAL85ILE
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<br />
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SNP: rs387906613,
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gnomAD: rs387906613,
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ClinVar: RCV000022513
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In affected members of a 3-generation Chinese family segregating autosomal dominant atrial fibrillation (ATFB11; 614049), Yang et al. (2010) identified heterozygosity for a 253G-A transition in the GJA5 gene, resulting in a val85-to-ile (V85I) substitution at a highly conserved residue within the second transmembrane domain. The mutation was not found in 4 unaffected relatives or in 200 ethnically matched controls. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0005 ATRIAL FIBRILLATION, FAMILIAL, 11</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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GJA5, LEU221ILE
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<br />
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SNP: rs387906614,
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ClinVar: RCV000022514
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In affected members of a 2-generation Chinese family segregating autosomal dominant atrial fibrillation (ATFB11; 614049), Yang et al. (2010) identified heterozygosity for a 661C-A transversion in the GJA5 gene, resulting in a leu221-to-ile (L221I) substitution at a highly conserved residue within the fourth transmembrane domain. The mutation was not found in 4 unaffected relatives or in 200 ethnically matched controls. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0006 ATRIAL FIBRILLATION, FAMILIAL, 11</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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GJA5, LEU229MET
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<br />
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SNP: rs387906615,
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ClinVar: RCV000022515
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In affected members of a 3-generation Chinese family segregating autosomal dominant atrial fibrillation (ATFB11; 614049), Yang et al. (2010) identified heterozygosity for a 685C-A transversion in the GJA5 gene, resulting in a leu229-to-met (L229M) substitution at a highly conserved residue within the cytoplasmic region near the fourth transmembrane domain. The mutation was not found in 4 unaffected relatives or in 200 ethnically matched controls. </p><p>Sun et al. (2013) performed dual voltage-clamp electrophysiologic analysis in N2A cells and observed no impairment in junctional conductance when the L229M mutant was expressed alone or together with wildtype CX40. However, there was a significant reduction in junctional conductance when L229M was coexpressed with CX43 (GJA1; 121014), suggesting a dominant-negative effect of the mutant on wildtype CX43 gap junction function. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0007 ATRIAL FIBRILLATION, FAMILIAL, 11</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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GJA5, ILE75PHE
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<br />
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SNP: rs587777304,
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ClinVar: RCV000114757, RCV002515789
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 42-year-old Chinese woman with isolated atrial fibrillation (ATFB11; 614049), Sun et al. (2013) identified heterozygosity for a c.223A-T transversion in the GJA5 gene, resulting in an ile75-to-phe (I75F) substitution at a highly conserved residue located at the boundary of the first extracellular domain and the second transmembrane domain. The mutation was also detected in the patient's affected father but was not found in unaffected family members, in 200 controls, or in the dbSNP database. Dual voltage-clamp electrophysiologic analysis in N2A cells demonstrated no electrical coupling of cell pairs expressing the I75F mutant alone, and there was a significant reduction in gap junction coupling conductance when the mutant was coexpressed with wildtype CX40 or CX43 (GJA1; 121014). At the single-channel level, the I75F mutant reduced the total number of active channels without changing conductance of individual gap junction channels, and also altered transjunctional voltage-dependent gating properties. </p>
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<p>
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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