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<title>
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Entry
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- *601017 - SYNTROPHIN, ALPHA-1; SNTA1
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- OMIM
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<div id="mimSearch" class="hidden-print">
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
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<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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<li class="dropdown-header">
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Advanced Search
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/entry"> OMIM </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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</form>
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<p />
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<div class="row">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*601017</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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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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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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</li>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/601017">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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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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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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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 id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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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="panel-title">
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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=ENSG00000101400;t=ENST00000217381" 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=6640" 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=601017" 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="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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</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=ENSG00000101400;t=ENST00000217381" 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_001424413,NM_001424414,NM_003098,XM_011529008,XM_024451971,XM_047440392" 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_003098" 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=601017" 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=03009&isoform_id=03009_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/SNTA1" 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/1145728,1438772,4507137,20070782,23822157,89243619,119596720,119596721,119596722,119596723,158257420,193788278,194377778,768018131,1370480872,2217335927,2462581298,2462581300,2462581302,2580854169,2580854173" 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/Q13424" 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=6640" 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=ENSG00000101400;t=ENST00000217381" 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=SNTA1" 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=SNTA1" 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+6640" 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/SNTA1" 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:6640" 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/6640" 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=chr20&hgg_gene=ENST00000217381.3&hgg_start=33407957&hgg_end=33443763&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>
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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="mimClinicalResources">
|
|
<span class="panel-title">
|
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<span class="small">
|
|
<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/genes/HGNC:11167" 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=601017[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=601017[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/ENSG00000101400" 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=SNTA1" 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=SNTA1" 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=SNTA1" 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="http://databases.lovd.nl/genomed/home.php?select_db=SNTA1" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=SNTA1&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/PA36007" 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:11167" 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://flybase.org/reports/FBgn0037130.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:101772" 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/SNTA1#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:101772" 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/6640/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=6640" 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://wormbase.org/db/gene/gene?name=WBGene00006062;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-120919-5" 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">
|
|
<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://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6640" 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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<div><a href="https://reactome.org/content/query?q=SNTA1&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>
|
|
601017
|
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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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SYNTROPHIN, ALPHA-1; SNTA1
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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">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
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</p>
|
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</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
SNT1<br />
|
|
PRO-TGF-ALPHA CYTOPLASMIC DOMAIN-INTERACTING PROTEIN 1; TACIP1
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</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>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=SNTA1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SNTA1</a></em></strong>
|
|
</span>
|
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</p>
|
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</div>
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/20/213?start=-3&limit=10&highlight=213">20q11.21</a>
|
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr20:33407957-33443763&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'})">20:33,407,957-33,443,763</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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|
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
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</th>
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
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<th>
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PheneGene Graphics <span class="caret"></span>
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<li><a href="/graph/linear/601017" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/601017" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<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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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>Syntrophin is a peripheral membrane protein of relative mass approximately 58,000 that was first identified in the postsynaptic membrane of Torpedo electric organ and subsequently shown to be present in many mammalian tissues. Interest in syntrophin came first from its location at the neuromuscular junction and later from the demonstration that it is directly associated with dystrophin (<a href="/entry/310200">310200</a>). A potential role for the dystrophin-associated proteins in agrin-stimulated nicotinic acetylcholine receptor clustering has implicated syntrophin in the process of synaptogenesis. At least 3 different but highly conserved syntrophin isoforms are encoded by distinct genes: alpha-1, beta-1 (<a href="/entry/600026">600026</a>), and beta-2 (<a href="/entry/600027">600027</a>). Each has approximately 50% amino acid identity with the other 2. These 3 syntrophins can be separated into 2 classes based on isoelectric points: the acidic isoform, alpha-1-syntrophin (pI = 6.7), and the 2 basic forms, beta-1 and beta-2 (pI = 9.0).</p>
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<p><a href="#1" class="mim-tip-reference" title="Adams, M. E., Dwyer, T. M., Dowler, L. L., White, R. A., Froehner, S. C. <strong>Mouse alpha-1- and beta-2-syntrophin gene structure, chromosome localization, and homology with a discs large domain.</strong> J. Biol. Chem. 270: 25859-25865, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7592771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7592771</a>] [<a href="https://doi.org/10.1074/jbc.270.43.25859" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7592771">Adams et al. (1995)</a> cloned and characterized the mouse alpha-1- and beta-2-syntrophin genes. Analysis of the amino acid sequence revealed the presence of 4 conserved domains. The C-terminal 56 amino acids are highly conserved and constitute a syntrophin-unique domain. Two pleckstrin (<a href="/entry/173570">173570</a>) homology domains are located in the N-terminal end of the protein. The first pleckstrin homology domain is interrupted by a domain homologous to repeated sequences originally found in the Drosophila discs-large protein (<a href="/entry/601014">601014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7592771" 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="#2" class="mim-tip-reference" title="Ahn, A. H., Freener, C. A., Gussoni, E., Yoshida, M., Ozawa, E., Kunkel, L. M. <strong>The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives.</strong> J. Biol. Chem. 271: 2724-2730, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8576247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8576247</a>] [<a href="https://doi.org/10.1074/jbc.271.5.2724" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8576247">Ahn et al. (1996)</a> showed that whereas beta-1-syntrophin and beta-2-syntrophin are expressed widely, although in a distinct pattern of relative abundance, alpha-1-syntrophin is most abundant in heart and skeletal muscle, and less so in other tissues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8576247" 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="#3" class="mim-tip-reference" title="Fernandez-Larrea, J., Merlos-Suarez, A., Urena, J. M., Baselga, J., Arribas, J. <strong>A role for a PDZ protein in the early secretory pathway for the targeting of proTGF-alpha to the cell surface.</strong> Molec. Cell 3: 423-433, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10230395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10230395</a>] [<a href="https://doi.org/10.1016/s1097-2765(00)80470-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10230395">Fernandez-Larrea et al. (1999)</a> used the 2-hybrid screen to identify pro-TGF-alpha (<a href="/entry/190170">190170</a>) cytoplasmic domain-binding proteins, which they referred to as TACIPs (pro-TGF-alpha cytoplasmic domain-interacting proteins), involved in the trafficking of pro-TGF-alpha. They cloned 2 such proteins, TACIP1 and TACIP18, both of which showed a lack of interaction with a pro-TGF-alpha C-terminal mutant that does not reach the cell surface. TACIP1 and TACIP18 are identical to the PDZ proteins alpha-1-syntrophin and syntenin (<a href="/entry/602217">602217</a>), respectively. PDZ domains are known to bind to the C terminus of a variety of transmembrane proteins. Accordingly, <a href="#3" class="mim-tip-reference" title="Fernandez-Larrea, J., Merlos-Suarez, A., Urena, J. M., Baselga, J., Arribas, J. <strong>A role for a PDZ protein in the early secretory pathway for the targeting of proTGF-alpha to the cell surface.</strong> Molec. Cell 3: 423-433, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10230395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10230395</a>] [<a href="https://doi.org/10.1016/s1097-2765(00)80470-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10230395">Fernandez-Larrea et al. (1999)</a> demonstrated that the PDZ domains of TACIP1 and TACIP18 are responsible for the interaction with the cytoplasmic domain of pro-TGF-alpha. Analysis of a panel of pro-TGF-alpha C-terminal mutants showed that mutations that prevented the binding to TACIP1, but not to TACIP18, did not disrupt the transport of pro-TGF-alpha to the cell surface in vivo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10230395" 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="#1" class="mim-tip-reference" title="Adams, M. E., Dwyer, T. M., Dowler, L. L., White, R. A., Froehner, S. C. <strong>Mouse alpha-1- and beta-2-syntrophin gene structure, chromosome localization, and homology with a discs large domain.</strong> J. Biol. Chem. 270: 25859-25865, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7592771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7592771</a>] [<a href="https://doi.org/10.1074/jbc.270.43.25859" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7592771">Adams et al. (1995)</a> determined that the mouse Snta1 gene spans more than 24 kb and contains 8 exons. Primer extension analysis revealed 2 transcription initiation sites. The sequence immediately 5-prime of the transcription start sites lacks a TATA box but is GC-rich and has multiple putative Sp1 (<a href="/entry/189906">189906</a>)-binding sites. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7592771" 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="#1" class="mim-tip-reference" title="Adams, M. E., Dwyer, T. M., Dowler, L. L., White, R. A., Froehner, S. C. <strong>Mouse alpha-1- and beta-2-syntrophin gene structure, chromosome localization, and homology with a discs large domain.</strong> J. Biol. Chem. 270: 25859-25865, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7592771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7592771</a>] [<a href="https://doi.org/10.1074/jbc.270.43.25859" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7592771">Adams et al. (1995)</a> mapped the SNTA1 gene to mouse chromosome 2 by study of an interspecific backcross panel and to human chromosome 20 by study of a hamster/human somatic cell hybrid panel. By PCR analysis of somatic cell hybrids and fluorescence in situ hybridization, <a href="#2" class="mim-tip-reference" title="Ahn, A. H., Freener, C. A., Gussoni, E., Yoshida, M., Ozawa, E., Kunkel, L. M. <strong>The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives.</strong> J. Biol. Chem. 271: 2724-2730, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8576247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8576247</a>] [<a href="https://doi.org/10.1074/jbc.271.5.2724" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8576247">Ahn et al. (1996)</a> mapped the SNTA1 gene to chromosome 20q11.2. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7592771+8576247" 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>Using various methods, <a href="#5" class="mim-tip-reference" title="Lanciotti, A., Brignone, M. S., Molinari, P., Visentin, S., De Nuccio, C., Macchia, G., Aiello, C., Bertini, E., Aloisi, F., Petrucci, T. C., Ambrosini, E. <strong>Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations.</strong> Hum. Molec. Genet. 21: 2166-2180, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22328087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22328087</a>] [<a href="https://doi.org/10.1093/hmg/dds032" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22328087">Lanciotti et al. (2012)</a> found that MLC1 (<a href="/entry/605908">605908</a>), TRPV4 (<a href="/entry/605427">605427</a>), HEPACAM (<a href="/entry/611642">611642</a>), syntrophin, caveolin-1 (CAV1; <a href="/entry/601047">601047</a>), Kir4.1 (KCNJ10; <a href="/entry/602208">602208</a>), and AQP4 (<a href="/entry/600308">600308</a>) assembled into an Na,K-ATPase-associated multiprotein complex. In rat and human astrocyte cell lines, this Na,K-ATPase complex mediated swelling-induced cytosolic calcium increase and volume recovery in response to hyposmotic stress. MLC1 associated directly with the Na,K-ATPase beta-1 subunit (ATP1B1; <a href="/entry/182330">182330</a>), and plasma membrane expression of MLC1 was required for assembly of the Na,K-ATPase complex. TRPV4 was required for calcium influx, and AQP4 was recruited to the complex following hyposmotic stress. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22328087" 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="Ueda, K., Valdivia, C., Medeiros-Domingo, A., Tester, D. J., Vatta, M., Farrugia, G., Ackerman, M. J., Makielski, J. C. <strong>Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex.</strong> Proc. Nat. Acad. Sci. 105: 9355-9360, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18591664/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18591664</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18591664[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/10.1073/pnas.0801294105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18591664">Ueda et al. (2008)</a> analyzed the SNTA1 gene in 50 unrelated patients with long QT syndrome (LQTS; see LQT12, <a href="/entry/612955">612955</a>) who were negative for mutations in the 11 known LQTS genes and identified a heterozygous missense mutation in 1 patient (A390V; <a href="#0001">601017.0001</a>). Using a GST-fusion protein of the C terminus of SCN5A (<a href="/entry/600163">600163</a>) in HEK293 cells, the authors demonstrated that SNTA1 interacts with SCN5A, nNOS (see <a href="/entry/163731">163731</a>), and PMCA4b (see ATP2B4, <a href="/entry/108732">108732</a>); in contrast, mutant SNTA1 selectively disrupted association of PMCA4b with this complex and increased direct nitrosylation of SCN5A. Mutant SNTA1 expressed with SCN5A, nNOS, and PMCA4b in heterologous cells increased peak and late sodium current compared to wildtype, and the increase was partially inhibited by NOS blockers; expression of mutant SNTA1 in cardiac myocytes also increased late sodium current. <a href="#6" class="mim-tip-reference" title="Ueda, K., Valdivia, C., Medeiros-Domingo, A., Tester, D. J., Vatta, M., Farrugia, G., Ackerman, M. J., Makielski, J. C. <strong>Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex.</strong> Proc. Nat. Acad. Sci. 105: 9355-9360, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18591664/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18591664</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18591664[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/10.1073/pnas.0801294105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18591664">Ueda et al. (2008)</a> concluded that the A390V mutation disrupts binding with PMCA4b, releases inhibition of nNOS, causes S-nitrosylation of SCN5A, and is associated with increased late sodium current, which is the characteristic biophysical dysfunction in sodium channel-mediated LQTS (see LQT3, <a href="/entry/603830">603830</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18591664" 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 3 unrelated patients with long QT syndrome, <a href="#7" class="mim-tip-reference" title="Wu, G., Ai, T., Kim, J. J., Mohapatra, B., Xi, Y., Li, Z., Abbasi, A., Purevjav, E., Samani, K., Ackerman, M. J., Qi, M., Moss, A. J., Shimizu, W., Towbin, J. A., Cheng, J., Vatta, M. <strong>Alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption.</strong> Circ. Arrhythm. Electrophysiol. 1: 193-201, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19684871/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19684871</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19684871[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.108.769224" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19684871">Wu et al. (2008)</a> identified heterozygosity for a missense mutation in the SNTA1 gene (A257G; <a href="#0002">601017.0002</a>). Electrophysiologic analysis suggested that A257G mutant channels exhibit a gain of function through 3 mechanisms: increase of channel availability by leftward shift of activation kinetics, delay of current decay, and increase in current density. In 1 family, affected individuals also carried a variant of unknown significance in the KCNQ1 gene (<a href="/entry/607542">607542</a>), IVS7+5G-A. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19684871" 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="#4" class="mim-tip-reference" title="Hosaka, Y., Yokota, T., Miyagoe-Suzuki, Y., Yuasa, K., Imamura, M., Matsuda, R., Ikemoto, T., Kameya, S., Takeda, S. <strong>Alpha-1-syntrophin-deficient skeletal muscle exhibits hypertrophy and aberrant formation of neuromuscular junctions during regeneration.</strong> J. Cell Biol. 158: 1097-1107, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12221071/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12221071</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12221071[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/10.1083/jcb.200204076" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12221071">Hosaka et al. (2002)</a> developed Snta1-null mice and found that they had no gross histologic changes. There were, however, important differences in muscle regeneration following injection of cardiotoxin into the tibialis anterior muscle. Initially, regeneration of wildtype and Snta1-null muscles was indistinguishable. After 2 weeks, though, the Snta1-null muscles were hypertrophied and showed extensive fiber splitting, deranged neuromuscular junctions, and reduced contractile force. Snta1-null mice also showed impaired exercise endurance in the early phase of regeneration. <a href="#4" class="mim-tip-reference" title="Hosaka, Y., Yokota, T., Miyagoe-Suzuki, Y., Yuasa, K., Imamura, M., Matsuda, R., Ikemoto, T., Kameya, S., Takeda, S. <strong>Alpha-1-syntrophin-deficient skeletal muscle exhibits hypertrophy and aberrant formation of neuromuscular junctions during regeneration.</strong> J. Cell Biol. 158: 1097-1107, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12221071/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12221071</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12221071[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/10.1083/jcb.200204076" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12221071">Hosaka et al. (2002)</a> noted that these abnormalities are typically observed in the early stages of Duchenne muscular dystrophy (<a href="/entry/310200">310200</a>) and suggested that lack of Snta1 may be partly responsible for the pathologic changes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12221071" 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="https://www.ncbi.nlm.nih.gov/clinvar?term=601017[MIM]" class="btn btn-default mim-tip-hint" role="button" 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>
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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> rs121434500 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434500;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/rs121434500?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=rs121434500" 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=rs121434500" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a man with long QT syndrome (LQT12; <a href="/entry/612955">612955</a>), <a href="#6" class="mim-tip-reference" title="Ueda, K., Valdivia, C., Medeiros-Domingo, A., Tester, D. J., Vatta, M., Farrugia, G., Ackerman, M. J., Makielski, J. C. <strong>Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex.</strong> Proc. Nat. Acad. Sci. 105: 9355-9360, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18591664/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18591664</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18591664[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/10.1073/pnas.0801294105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18591664">Ueda et al. (2008)</a> identified heterozygosity for a C-to-T transition in the SNTA1 gene, resulting in an ala390-to-val (A390V) substitution at a highly conserved residue. The patient, who had a corrected QT interval of 529 ms on electrocardiography, had been diagnosed with LQTS at 18 years of age after syncopal episodes but had no other symptoms of cardiac or skeletal muscle disease. Mutant SNTA1 expressed with SCN5A, nNOS, and PMCA4b in heterologous cells increased peak and late sodium current compared to wildtype, and the increase was partially inhibited by NOS blockers; expression of mutant SNTA1 in cardiac myocytes also increased late sodium current. The mutation was not found in 600 reference alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18591664" 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> rs56157422 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs56157422;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/rs56157422?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=rs56157422" 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=rs56157422" 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=RCV000171774 OR RCV000191018 OR RCV000247418 OR RCV000990299 OR RCV001256962 OR RCV001706109 OR RCV003917588" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000171774, RCV000191018, RCV000247418, RCV000990299, RCV001256962, RCV001706109, RCV003917588" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000171774...</a>
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<p>In 3 unrelated patients with long QT syndrome (LQT12; <a href="/entry/612955">612955</a>), <a href="#7" class="mim-tip-reference" title="Wu, G., Ai, T., Kim, J. J., Mohapatra, B., Xi, Y., Li, Z., Abbasi, A., Purevjav, E., Samani, K., Ackerman, M. J., Qi, M., Moss, A. J., Shimizu, W., Towbin, J. A., Cheng, J., Vatta, M. <strong>Alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption.</strong> Circ. Arrhythm. Electrophysiol. 1: 193-201, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19684871/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19684871</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19684871[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.108.769224" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19684871">Wu et al. (2008)</a> identified heterozygosity for an ala257-to-gly (A257G) substitution at a highly conserved residue in the SNTA1 protein. The mutation was not detected in 400 ethnically matched alleles. In 2 women, the change arose de novo, as it was not present in their unaffected parents, who had normal electrocardiograms. The third patient was a 17-year-old boy, whose sister, mother, maternal uncle, and maternal grandmother were also affected and heterozygous for the mutation; affected members of this family were also heterozygous for a variant of unknown significance in the KCNQ1 gene (<a href="/entry/607542">607542</a>), IVS7+5G-A. Electrophysiologic analysis in transfected HEK293 cells suggested that A257G mutant channels exhibit a gain of function through 3 mechanisms: increase of channel availability by leftward shift of activation kinetics, delay of current decay, and increase in current density. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19684871" 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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Adams, M. E., Dwyer, T. M., Dowler, L. L., White, R. A., Froehner, S. C.
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<strong>Mouse alpha-1- and beta-2-syntrophin gene structure, chromosome localization, and homology with a discs large domain.</strong>
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J. Biol. Chem. 270: 25859-25865, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7592771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7592771</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7592771" 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/10.1074/jbc.270.43.25859" target="_blank">Full Text</a>]
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<strong>The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives.</strong>
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J. Biol. Chem. 271: 2724-2730, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8576247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8576247</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8576247" 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/10.1074/jbc.271.5.2724" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Fernandez-Larrea1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Fernandez-Larrea, J., Merlos-Suarez, A., Urena, J. M., Baselga, J., Arribas, J.
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<strong>A role for a PDZ protein in the early secretory pathway for the targeting of proTGF-alpha to the cell surface.</strong>
|
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Molec. Cell 3: 423-433, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10230395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10230395</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10230395" 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/s1097-2765(00)80470-0" 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="4" class="mim-anchor"></a>
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<a id="Hosaka2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hosaka, Y., Yokota, T., Miyagoe-Suzuki, Y., Yuasa, K., Imamura, M., Matsuda, R., Ikemoto, T., Kameya, S., Takeda, S.
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<strong>Alpha-1-syntrophin-deficient skeletal muscle exhibits hypertrophy and aberrant formation of neuromuscular junctions during regeneration.</strong>
|
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J. Cell Biol. 158: 1097-1107, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12221071/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12221071</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12221071[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=12221071" 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/10.1083/jcb.200204076" 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="5" class="mim-anchor"></a>
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<a id="Lanciotti2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lanciotti, A., Brignone, M. S., Molinari, P., Visentin, S., De Nuccio, C., Macchia, G., Aiello, C., Bertini, E., Aloisi, F., Petrucci, T. C., Ambrosini, E.
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|
<strong>Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations.</strong>
|
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Hum. Molec. Genet. 21: 2166-2180, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22328087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22328087</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22328087" 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/hmg/dds032" 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="6" class="mim-anchor"></a>
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<a id="Ueda2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ueda, K., Valdivia, C., Medeiros-Domingo, A., Tester, D. J., Vatta, M., Farrugia, G., Ackerman, M. J., Makielski, J. C.
|
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<strong>Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex.</strong>
|
|
Proc. Nat. Acad. Sci. 105: 9355-9360, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18591664/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18591664</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18591664[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=18591664" 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/10.1073/pnas.0801294105" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Wu2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wu, G., Ai, T., Kim, J. J., Mohapatra, B., Xi, Y., Li, Z., Abbasi, A., Purevjav, E., Samani, K., Ackerman, M. J., Qi, M., Moss, A. J., Shimizu, W., Towbin, J. A., Cheng, J., Vatta, M.
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<strong>Alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption.</strong>
|
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Circ. Arrhythm. Electrophysiol. 1: 193-201, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19684871/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19684871</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19684871[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=19684871" 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/CIRCEP.108.769224" target="_blank">Full Text</a>]
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</p>
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</div>
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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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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 9/22/2015
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</span>
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</div>
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</div>
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<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">
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Patricia A. Hartz - updated : 7/8/2013<br>Marla J. F. O'Neill - updated : 8/5/2009<br>Patricia A. Hartz - updated : 11/1/2002<br>Stylianos E. Antonarakis - updated : 7/2/1999
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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="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">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 1/28/1996
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</span>
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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="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 09/23/2015
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<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">
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<span class="mim-text-font">
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alopez : 9/22/2015<br>mgross : 7/8/2013<br>wwang : 8/10/2009<br>terry : 8/5/2009<br>terry : 4/5/2005<br>mgross : 11/1/2002<br>carol : 2/15/2001<br>carol : 10/24/2000<br>mgross : 7/9/1999<br>kayiaros : 7/2/1999<br>kayiaros : 7/2/1999<br>dkim : 7/16/1998<br>mark : 5/28/1996<br>terry : 5/6/1996<br>mark : 1/30/1996<br>mark : 1/28/1996
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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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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 601017
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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SYNTROPHIN, ALPHA-1; SNTA1
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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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<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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SNT1<br />
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PRO-TGF-ALPHA CYTOPLASMIC DOMAIN-INTERACTING PROTEIN 1; TACIP1
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: SNTA1</em></strong>
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</span>
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</p>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 20q11.21
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Genomic coordinates <span class="small">(GRCh38)</span> : 20:33,407,957-33,443,763 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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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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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed 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>
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Phenotype
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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="1">
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<span class="mim-font">
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20q11.21
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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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Long QT syndrome 12
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
612955
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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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Autosomal dominant
|
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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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3
|
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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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<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>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<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>Syntrophin is a peripheral membrane protein of relative mass approximately 58,000 that was first identified in the postsynaptic membrane of Torpedo electric organ and subsequently shown to be present in many mammalian tissues. Interest in syntrophin came first from its location at the neuromuscular junction and later from the demonstration that it is directly associated with dystrophin (310200). A potential role for the dystrophin-associated proteins in agrin-stimulated nicotinic acetylcholine receptor clustering has implicated syntrophin in the process of synaptogenesis. At least 3 different but highly conserved syntrophin isoforms are encoded by distinct genes: alpha-1, beta-1 (600026), and beta-2 (600027). Each has approximately 50% amino acid identity with the other 2. These 3 syntrophins can be separated into 2 classes based on isoelectric points: the acidic isoform, alpha-1-syntrophin (pI = 6.7), and the 2 basic forms, beta-1 and beta-2 (pI = 9.0).</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>Adams et al. (1995) cloned and characterized the mouse alpha-1- and beta-2-syntrophin genes. Analysis of the amino acid sequence revealed the presence of 4 conserved domains. The C-terminal 56 amino acids are highly conserved and constitute a syntrophin-unique domain. Two pleckstrin (173570) homology domains are located in the N-terminal end of the protein. The first pleckstrin homology domain is interrupted by a domain homologous to repeated sequences originally found in the Drosophila discs-large protein (601014). </p><p>Ahn et al. (1996) showed that whereas beta-1-syntrophin and beta-2-syntrophin are expressed widely, although in a distinct pattern of relative abundance, alpha-1-syntrophin is most abundant in heart and skeletal muscle, and less so in other tissues. </p><p>Fernandez-Larrea et al. (1999) used the 2-hybrid screen to identify pro-TGF-alpha (190170) cytoplasmic domain-binding proteins, which they referred to as TACIPs (pro-TGF-alpha cytoplasmic domain-interacting proteins), involved in the trafficking of pro-TGF-alpha. They cloned 2 such proteins, TACIP1 and TACIP18, both of which showed a lack of interaction with a pro-TGF-alpha C-terminal mutant that does not reach the cell surface. TACIP1 and TACIP18 are identical to the PDZ proteins alpha-1-syntrophin and syntenin (602217), respectively. PDZ domains are known to bind to the C terminus of a variety of transmembrane proteins. Accordingly, Fernandez-Larrea et al. (1999) demonstrated that the PDZ domains of TACIP1 and TACIP18 are responsible for the interaction with the cytoplasmic domain of pro-TGF-alpha. Analysis of a panel of pro-TGF-alpha C-terminal mutants showed that mutations that prevented the binding to TACIP1, but not to TACIP18, did not disrupt the transport of pro-TGF-alpha to the cell surface in vivo. </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>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Adams et al. (1995) determined that the mouse Snta1 gene spans more than 24 kb and contains 8 exons. Primer extension analysis revealed 2 transcription initiation sites. The sequence immediately 5-prime of the transcription start sites lacks a TATA box but is GC-rich and has multiple putative Sp1 (189906)-binding sites. </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>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
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</span>
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</h4>
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</div>
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<p>Adams et al. (1995) mapped the SNTA1 gene to mouse chromosome 2 by study of an interspecific backcross panel and to human chromosome 20 by study of a hamster/human somatic cell hybrid panel. By PCR analysis of somatic cell hybrids and fluorescence in situ hybridization, Ahn et al. (1996) mapped the SNTA1 gene to chromosome 20q11.2. </p>
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<strong>Gene Function</strong>
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<p>Using various methods, Lanciotti et al. (2012) found that MLC1 (605908), TRPV4 (605427), HEPACAM (611642), syntrophin, caveolin-1 (CAV1; 601047), Kir4.1 (KCNJ10; 602208), and AQP4 (600308) assembled into an Na,K-ATPase-associated multiprotein complex. In rat and human astrocyte cell lines, this Na,K-ATPase complex mediated swelling-induced cytosolic calcium increase and volume recovery in response to hyposmotic stress. MLC1 associated directly with the Na,K-ATPase beta-1 subunit (ATP1B1; 182330), and plasma membrane expression of MLC1 was required for assembly of the Na,K-ATPase complex. TRPV4 was required for calcium influx, and AQP4 was recruited to the complex following hyposmotic stress. </p>
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<strong>Molecular Genetics</strong>
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<p>Ueda et al. (2008) analyzed the SNTA1 gene in 50 unrelated patients with long QT syndrome (LQTS; see LQT12, 612955) who were negative for mutations in the 11 known LQTS genes and identified a heterozygous missense mutation in 1 patient (A390V; 601017.0001). Using a GST-fusion protein of the C terminus of SCN5A (600163) in HEK293 cells, the authors demonstrated that SNTA1 interacts with SCN5A, nNOS (see 163731), and PMCA4b (see ATP2B4, 108732); in contrast, mutant SNTA1 selectively disrupted association of PMCA4b with this complex and increased direct nitrosylation of SCN5A. Mutant SNTA1 expressed with SCN5A, nNOS, and PMCA4b in heterologous cells increased peak and late sodium current compared to wildtype, and the increase was partially inhibited by NOS blockers; expression of mutant SNTA1 in cardiac myocytes also increased late sodium current. Ueda et al. (2008) concluded that the A390V mutation disrupts binding with PMCA4b, releases inhibition of nNOS, causes S-nitrosylation of SCN5A, and is associated with increased late sodium current, which is the characteristic biophysical dysfunction in sodium channel-mediated LQTS (see LQT3, 603830). </p><p>In 3 unrelated patients with long QT syndrome, Wu et al. (2008) identified heterozygosity for a missense mutation in the SNTA1 gene (A257G; 601017.0002). Electrophysiologic analysis suggested that A257G mutant channels exhibit a gain of function through 3 mechanisms: increase of channel availability by leftward shift of activation kinetics, delay of current decay, and increase in current density. In 1 family, affected individuals also carried a variant of unknown significance in the KCNQ1 gene (607542), IVS7+5G-A. </p>
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<strong>Animal Model</strong>
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<p>Hosaka et al. (2002) developed Snta1-null mice and found that they had no gross histologic changes. There were, however, important differences in muscle regeneration following injection of cardiotoxin into the tibialis anterior muscle. Initially, regeneration of wildtype and Snta1-null muscles was indistinguishable. After 2 weeks, though, the Snta1-null muscles were hypertrophied and showed extensive fiber splitting, deranged neuromuscular junctions, and reduced contractile force. Snta1-null mice also showed impaired exercise endurance in the early phase of regeneration. Hosaka et al. (2002) noted that these abnormalities are typically observed in the early stages of Duchenne muscular dystrophy (310200) and suggested that lack of Snta1 may be partly responsible for the pathologic changes. </p>
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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>2 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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<h4>
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<span class="mim-font">
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<strong>.0001 LONG QT SYNDROME 12</strong>
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</h4>
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SNTA1, ALA390VAL
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<br />
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SNP: rs121434500,
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gnomAD: rs121434500,
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ClinVar: RCV000008997, RCV000414434, RCV000852541, RCV002326671, RCV002512925
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<p>In a man with long QT syndrome (LQT12; 612955), Ueda et al. (2008) identified heterozygosity for a C-to-T transition in the SNTA1 gene, resulting in an ala390-to-val (A390V) substitution at a highly conserved residue. The patient, who had a corrected QT interval of 529 ms on electrocardiography, had been diagnosed with LQTS at 18 years of age after syncopal episodes but had no other symptoms of cardiac or skeletal muscle disease. Mutant SNTA1 expressed with SCN5A, nNOS, and PMCA4b in heterologous cells increased peak and late sodium current compared to wildtype, and the increase was partially inhibited by NOS blockers; expression of mutant SNTA1 in cardiac myocytes also increased late sodium current. The mutation was not found in 600 reference alleles. </p>
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</span>
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<br />
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<h4>
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<span class="mim-font">
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<strong>.0002 LONG QT SYNDROME 12</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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SNTA1, ALA257GLY
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<br />
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SNP: rs56157422,
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gnomAD: rs56157422,
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ClinVar: RCV000171774, RCV000191018, RCV000247418, RCV000990299, RCV001256962, RCV001706109, RCV003917588
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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 3 unrelated patients with long QT syndrome (LQT12; 612955), Wu et al. (2008) identified heterozygosity for an ala257-to-gly (A257G) substitution at a highly conserved residue in the SNTA1 protein. The mutation was not detected in 400 ethnically matched alleles. In 2 women, the change arose de novo, as it was not present in their unaffected parents, who had normal electrocardiograms. The third patient was a 17-year-old boy, whose sister, mother, maternal uncle, and maternal grandmother were also affected and heterozygous for the mutation; affected members of this family were also heterozygous for a variant of unknown significance in the KCNQ1 gene (607542), IVS7+5G-A. Electrophysiologic analysis in transfected HEK293 cells suggested that A257G mutant channels exhibit a gain of function through 3 mechanisms: increase of channel availability by leftward shift of activation kinetics, delay of current decay, and increase in current density. </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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<h4>
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<span class="mim-font">
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<strong>REFERENCES</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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<ol>
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<li>
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<p class="mim-text-font">
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Adams, M. E., Dwyer, T. M., Dowler, L. L., White, R. A., Froehner, S. C.
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<strong>Mouse alpha-1- and beta-2-syntrophin gene structure, chromosome localization, and homology with a discs large domain.</strong>
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J. Biol. Chem. 270: 25859-25865, 1995.
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[PubMed: 7592771]
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[Full Text: https://doi.org/10.1074/jbc.270.43.25859]
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</li>
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<li>
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<p class="mim-text-font">
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Ahn, A. H., Freener, C. A., Gussoni, E., Yoshida, M., Ozawa, E., Kunkel, L. M.
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<strong>The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives.</strong>
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J. Biol. Chem. 271: 2724-2730, 1996.
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[PubMed: 8576247]
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[Full Text: https://doi.org/10.1074/jbc.271.5.2724]
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</li>
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<li>
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<p class="mim-text-font">
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Fernandez-Larrea, J., Merlos-Suarez, A., Urena, J. M., Baselga, J., Arribas, J.
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<strong>A role for a PDZ protein in the early secretory pathway for the targeting of proTGF-alpha to the cell surface.</strong>
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Molec. Cell 3: 423-433, 1999.
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[PubMed: 10230395]
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[Full Text: https://doi.org/10.1016/s1097-2765(00)80470-0]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hosaka, Y., Yokota, T., Miyagoe-Suzuki, Y., Yuasa, K., Imamura, M., Matsuda, R., Ikemoto, T., Kameya, S., Takeda, S.
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<strong>Alpha-1-syntrophin-deficient skeletal muscle exhibits hypertrophy and aberrant formation of neuromuscular junctions during regeneration.</strong>
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J. Cell Biol. 158: 1097-1107, 2002.
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[PubMed: 12221071]
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[Full Text: https://doi.org/10.1083/jcb.200204076]
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<li>
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<p class="mim-text-font">
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Lanciotti, A., Brignone, M. S., Molinari, P., Visentin, S., De Nuccio, C., Macchia, G., Aiello, C., Bertini, E., Aloisi, F., Petrucci, T. C., Ambrosini, E.
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<strong>Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations.</strong>
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Hum. Molec. Genet. 21: 2166-2180, 2012.
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[PubMed: 22328087]
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[Full Text: https://doi.org/10.1093/hmg/dds032]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Ueda, K., Valdivia, C., Medeiros-Domingo, A., Tester, D. J., Vatta, M., Farrugia, G., Ackerman, M. J., Makielski, J. C.
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<strong>Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex.</strong>
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Proc. Nat. Acad. Sci. 105: 9355-9360, 2008.
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[PubMed: 18591664]
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[Full Text: https://doi.org/10.1073/pnas.0801294105]
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</li>
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<li>
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<p class="mim-text-font">
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Wu, G., Ai, T., Kim, J. J., Mohapatra, B., Xi, Y., Li, Z., Abbasi, A., Purevjav, E., Samani, K., Ackerman, M. J., Qi, M., Moss, A. J., Shimizu, W., Towbin, J. A., Cheng, J., Vatta, M.
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<strong>Alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption.</strong>
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Circ. Arrhythm. Electrophysiol. 1: 193-201, 2008.
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[PubMed: 19684871]
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[Full Text: https://doi.org/10.1161/CIRCEP.108.769224]
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</li>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 9/22/2015<br>Patricia A. Hartz - updated : 7/8/2013<br>Marla J. F. O'Neill - updated : 8/5/2009<br>Patricia A. Hartz - updated : 11/1/2002<br>Stylianos E. Antonarakis - updated : 7/2/1999
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<span class="mim-text-font">
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Victor A. McKusick : 1/28/1996
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carol : 09/23/2015<br>alopez : 9/22/2015<br>mgross : 7/8/2013<br>wwang : 8/10/2009<br>terry : 8/5/2009<br>terry : 4/5/2005<br>mgross : 11/1/2002<br>carol : 2/15/2001<br>carol : 10/24/2000<br>mgross : 7/9/1999<br>kayiaros : 7/2/1999<br>kayiaros : 7/2/1999<br>dkim : 7/16/1998<br>mark : 5/28/1996<br>terry : 5/6/1996<br>mark : 1/30/1996<br>mark : 1/28/1996
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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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