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Entry
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- *612636 - UNC80 HOMOLOG, NALCN CHANNEL COMPLEX SUBUNIT; UNC80
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- OMIM
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<p>
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<span class="h4">*612636</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/612636">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div 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 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 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=ENSG00000144406;t=ENST00000673920" 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=285175" 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=612636" 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=ENSG00000144406;t=ENST00000673920" 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_001371986,NM_032504,NM_182587" 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_001371986" 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=612636" 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=12809&isoform_id=12809_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/UNC80" 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/14042358,20521990,21749043,119590871,119590872,119590873,119590874,119590875,119590876,187953311,194380914,194386582,197209826,226698393,229597129,256818778,1710749229" 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/Q8N2C7" 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=285175" 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=ENSG00000144406;t=ENST00000673920" 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=UNC80" 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=UNC80" 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+285175" 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/UNC80" 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:285175" 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/285175" 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=chr2&hgg_gene=ENST00000673920.1&hgg_start=209771832&hgg_end=209999296&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">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26582" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:26582" 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://medlineplus.gov/genetics/gene/unc80" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=612636[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=612636[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://www.deciphergenomics.org/gene/UNC80/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000144406" 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=UNC80" 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=UNC80" 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=UNC80" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=UNC80&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/PA165697705" 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:26582" 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/FBgn0039536.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:2652882" 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/UNC80#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:2652882" 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/285175/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=285175" 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=WBGene00006812;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-140106-167" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=UNC80&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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612636
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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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UNC80 HOMOLOG, NALCN CHANNEL COMPLEX SUBUNIT; UNC80
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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UNC80, C. ELEGANS, HOMOLOG OF<br />
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CHROMOSOME 2 OPEN READING FRAME 21; C2ORF21<br />
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KIAA1843
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=UNC80" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">UNC80</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/2/969?start=-3&limit=10&highlight=969">2q34</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:209771832-209999296&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'})">2:209,771,832-209,999,296</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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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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<a href="/geneMap/2/969?start=-3&limit=10&highlight=969">
|
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2q34
|
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/616801"> 616801 </a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/612636" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/612636" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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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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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<p>The UNC80 gene encodes a large protein necessary for the stability and function of the NALCN (<a href="/entry/611549">611549</a>) sodium leak channel and for bridging NALCN to UNC79 (<a href="/entry/616884">616884</a>) to form a functional complex (summary by <a href="#7" class="mim-tip-reference" title="Shamseldin, H. E., Faqeih, E., Alasmari, A., Zaki, M. S., Gleeson, J. G., Alkuraya, F. S. <strong>Mutations in UNC80, encoding part of the UNC79-UNC80-NALCN channel complex, cause autosomal-recessive severe infantile encephalopathy.</strong> Am. J. Hum. Genet. 98: 210-215, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26708753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26708753</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26708753[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/10.1016/j.ajhg.2015.11.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26708753">Shamseldin et al., 2016</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26708753" 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>By sequencing clones obtained from an adult hippocampus cDNA library, <a href="#5" class="mim-tip-reference" title="Nagase, T., Nakayama, M., Nakajima, D., Kikuno, R., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 8: 85-95, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11347906/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11347906</a>] [<a href="https://doi.org/10.1093/dnares/8.2.85" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11347906">Nagase et al. (2001)</a> cloned C2ORF21, which they designated KIAA1843. The deduced protein contains 1,341 amino acids. RT-PCR ELISA detected C2ORF21 expression in adult and fetal brain and in all specific adult brain regions examined. Very low expression was detected in testis and pancreas, and no expression was detected in other adult and fetal tissues examined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11347906" 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="Jospin, M., Watanabe, S., Joshi, D., Young, S., Hamming, K., Thacker, C., Snutch, T. P., Jorgensen, E. M., Schuske, K. <strong>UNC-80 and the NCA ion channels contribute to endocytosis defects in synaptojanin mutants.</strong> Curr. Biol. 17: 1595-1600, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17825559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17825559</a>] [<a href="https://doi.org/10.1016/j.cub.2007.08.036" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17825559">Jospin et al. (2007)</a> cloned Unc80, the C. elegans ortholog of C2ORF21. The deduced protein contains 3,184 amino acids. Fluorescence-tagged Unc80 was highly expressed throughout the worm nervous system, as well as in other tissues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17825559" 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="Lu, B., Su, Y., Das, S., Wang, H., Wang, Y., Liu, J., Ren, D. <strong>Peptide neurotransmitters activate a cation channel complex of NALCN and UNC-80.</strong> Nature 457: 741-744, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19092807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19092807</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19092807[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/10.1038/nature07579" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19092807">Lu et al. (2009)</a> cloned a mammalian UNC80 homolog from mouse brain. The UNC80 gene was predicted to encode a 371-kD protein with 96% identity with its human homolog. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19092807" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Shamseldin, H. E., Faqeih, E., Alasmari, A., Zaki, M. S., Gleeson, J. G., Alkuraya, F. S. <strong>Mutations in UNC80, encoding part of the UNC79-UNC80-NALCN channel complex, cause autosomal-recessive severe infantile encephalopathy.</strong> Am. J. Hum. Genet. 98: 210-215, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26708753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26708753</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26708753[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/10.1016/j.ajhg.2015.11.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26708753">Shamseldin et al. (2016)</a> found that murine Unc80 was nearly exclusively expressed in the adult brain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26708753" 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="#6" class="mim-tip-reference" title="Perez, Y., Kadir, R., Volodarsky, M., Noyman, I., Flusser, H., Shorer, Z., Gradstein, L., Birnbaum, R. Y., Birk, O. S. <strong>UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN.</strong> J. Med. Genet. 53: 397-402, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26545877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26545877</a>] [<a href="https://doi.org/10.1136/jmedgenet-2015-103352" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26545877">Perez et al. (2016)</a> found expression of the UNC80 gene in multiple human tissues, with highest expression in the adrenal gland, prostate, testis, brain, and cerebellum. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26545877" 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>By radiation hybrid analysis, <a href="#5" class="mim-tip-reference" title="Nagase, T., Nakayama, M., Nakajima, D., Kikuno, R., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 8: 85-95, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11347906/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11347906</a>] [<a href="https://doi.org/10.1093/dnares/8.2.85" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11347906">Nagase et al. (2001)</a> mapped the C2ORF21 gene to chromosome 2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11347906" 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="#1" class="mim-tip-reference" title="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 4/10/2018."None>Gross (2018)</a> mapped the UNC80 gene to chromosome 2q34 based on an alignment of the UNC80 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=BC136690" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">BC136690</a>) with the genomic sequence (GRCh38).</p>
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<p><a href="#2" class="mim-tip-reference" title="Jospin, M., Watanabe, S., Joshi, D., Young, S., Hamming, K., Thacker, C., Snutch, T. P., Jorgensen, E. M., Schuske, K. <strong>UNC-80 and the NCA ion channels contribute to endocytosis defects in synaptojanin mutants.</strong> Curr. Biol. 17: 1595-1600, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17825559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17825559</a>] [<a href="https://doi.org/10.1016/j.cub.2007.08.036" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17825559">Jospin et al. (2007)</a> found that C. elegans Unc80 was required for proper localization or stabilization of axonal NCA ion channel components, which are homologous to the vertebrate NALCN channel (<a href="/entry/611549">611549</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17825559" 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="Lu, B., Su, Y., Das, S., Wang, H., Wang, Y., Liu, J., Ren, D. <strong>Peptide neurotransmitters activate a cation channel complex of NALCN and UNC-80.</strong> Nature 457: 741-744, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19092807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19092807</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19092807[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/10.1038/nature07579" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19092807">Lu et al. (2009)</a> showed that, in the mouse hippocampal and ventral tegmental area neurons, substance P (see <a href="/entry/162320">162320</a>) and neurotensin (<a href="/entry/162650">162650</a>) activate a channel complex containing NALCN and the large protein UNC80. The activation of substance P through its G protein-coupled receptor TACR1 (<a href="/entry/162323">162323</a>) occurs by means of a unique mechanism: it does not require G protein activation but is dependent on Src family kinases. <a href="#3" class="mim-tip-reference" title="Lu, B., Su, Y., Das, S., Wang, H., Wang, Y., Liu, J., Ren, D. <strong>Peptide neurotransmitters activate a cation channel complex of NALCN and UNC-80.</strong> Nature 457: 741-744, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19092807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19092807</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19092807[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/10.1038/nature07579" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19092807">Lu et al. (2009)</a> suggested that their findings identified NALCN as the cation channel activated by substance P receptor, and suggested that UNC80 and Src family kinases, rather than a G protein, are involved in the coupling from receptor to channel. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19092807" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By immunoprecipitation analysis of mouse brain, <a href="#4" class="mim-tip-reference" title="Lu, B., Zhang, Q., Wang, H., Wang, Y., Nakayama, M., Ren, D. <strong>Extracellular calcium controls background current and neuronal excitability via an UNC79-UNC80-NALCN cation channel complex.</strong> Neuron 68: 488-499, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21040849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21040849</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21040849[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/10.1016/j.neuron.2010.09.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21040849">Lu et al. (2010)</a> found that Unc79 (<a href="/entry/616884">616884</a>) precipitated with Unc80 and Nalcn. Use of Nalcn -/- and Unc79 -/- mouse hippocampal neurons and transfection in human cell lines revealed that both Nalcn and Unc79 interacted directly with Unc80, but not with each other. Leak currents generated by Nalcn alone were insensitive to extracellular Ca(2+), and Unc80 provided Ca2+ sensitivity. Unc79 appeared to contribute to Ca2+ sensitivity of Nalcn currents by interacting with Unc80 and stabilizing Unc80 protein level. Inhibition of a Ca(2+)-sensitive G protein, possibly Casr (<a href="/entry/601199">601199</a>), countered Ca(2+) sensitivity of Nalcn currents. Unc79 -/- mice have disrupted breathing rhythms, fail to nurse, and die within the first days of life. <a href="#4" class="mim-tip-reference" title="Lu, B., Zhang, Q., Wang, H., Wang, Y., Nakayama, M., Ren, D. <strong>Extracellular calcium controls background current and neuronal excitability via an UNC79-UNC80-NALCN cation channel complex.</strong> Neuron 68: 488-499, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21040849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21040849</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21040849[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/10.1016/j.neuron.2010.09.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21040849">Lu et al. (2010)</a> found that Unc79 -/- hippocampal neurons showed normal Nalcn-dependent Na+ leak currents, but their leak currents were largely insensitive to changes in extracellular Ca(2+) concentration. Overexpression of Unc80 could bypass the requirement for Unc79 and rescue extracellular Ca(2+) sensitivity. <a href="#4" class="mim-tip-reference" title="Lu, B., Zhang, Q., Wang, H., Wang, Y., Nakayama, M., Ren, D. <strong>Extracellular calcium controls background current and neuronal excitability via an UNC79-UNC80-NALCN cation channel complex.</strong> Neuron 68: 488-499, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21040849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21040849</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21040849[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/10.1016/j.neuron.2010.09.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21040849">Lu et al. (2010)</a> concluded that extracellular Ca(2+) sensitivity of Nalcn leak currents is dependent upon Unc80, but that Unc79 may contribute to Ca(2+) sensitivity, possibly by stabilizing Unc80 protein levels. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21040849" 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>In 4 girls from 3 unrelated families with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2; <a href="/entry/616801">616801</a>), <a href="#8" class="mim-tip-reference" title="Stray-Pedersen, A., Cobben, J.-M., Prescott, T. E., Lee, S., Cang, C., Aranda, K., Ahmed, S., Alders, M., Gerstner, T., Aslaksen, K., Tetreault, M., Qin, W., and 10 others. <strong>Biallelic mutations in UNC80 cause persistent hypotonia, encephalopathy, growth retardation, and severe intellectual disability.</strong> Am. J. Hum. Genet. 98: 202-209, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26708751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26708751</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26708751[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/10.1016/j.ajhg.2015.11.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26708751">Stray-Pedersen et al. (2016)</a> identified biallelic mutations on the UNC80 gene (<a href="#0001">612636.0001</a>-<a href="#0004">612636.0004</a>). The mutations, which were found by exome sequencing, were predicted to result in a loss of function. In vitro studies of 1 of the mutations (P1700S; <a href="#0001">612636.0001</a>) showed that it was expressed normally and associated with UNC79 and NALCN (<a href="/entry/611549">611549</a>), but patch-clamp recording studies showed that the variant had significantly reduced NALCN currents compared to wildtype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26708751" 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 6 living children from 4 unrelated consanguineous families with IHPRF2, <a href="#7" class="mim-tip-reference" title="Shamseldin, H. E., Faqeih, E., Alasmari, A., Zaki, M. S., Gleeson, J. G., Alkuraya, F. S. <strong>Mutations in UNC80, encoding part of the UNC79-UNC80-NALCN channel complex, cause autosomal-recessive severe infantile encephalopathy.</strong> Am. J. Hum. Genet. 98: 210-215, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26708753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26708753</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26708753[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/10.1016/j.ajhg.2015.11.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26708753">Shamseldin et al. (2016)</a> identified 3 different homozygous mutations in the UNC80 gene (<a href="#0005">612636.0005</a>-<a href="/entry/613636#0007">613636.0007</a>). Two of the mutations were truncating and 1 was missense; functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26708753" 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 7 children from 2 distantly related consanguineous Bedouin families with IHPRF2, <a href="#6" class="mim-tip-reference" title="Perez, Y., Kadir, R., Volodarsky, M., Noyman, I., Flusser, H., Shorer, Z., Gradstein, L., Birnbaum, R. Y., Birk, O. S. <strong>UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN.</strong> J. Med. Genet. 53: 397-402, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26545877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26545877</a>] [<a href="https://doi.org/10.1136/jmedgenet-2015-103352" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26545877">Perez et al. (2016)</a> identified a homozygous nonsense mutation in the UNC80 gene (R51X; <a href="#0008">612636.0008</a>). The mutation, which was found by a combination of homozygosity mapping and whole-exome sequencing, segregated with the disorder. Western blot analysis of cells transfected with the mutant transcript showed absence of the UNC80 protein, consistent with a loss of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26545877" 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=612636[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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<strong>.0001 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2</strong>
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<p>In a 4-year-old girl, born of consanguineous Iraqi parents, with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2; <a href="/entry/616801">616801</a>), <a href="#8" class="mim-tip-reference" title="Stray-Pedersen, A., Cobben, J.-M., Prescott, T. E., Lee, S., Cang, C., Aranda, K., Ahmed, S., Alders, M., Gerstner, T., Aslaksen, K., Tetreault, M., Qin, W., and 10 others. <strong>Biallelic mutations in UNC80 cause persistent hypotonia, encephalopathy, growth retardation, and severe intellectual disability.</strong> Am. J. Hum. Genet. 98: 202-209, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26708751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26708751</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26708751[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/10.1016/j.ajhg.2015.11.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26708751">Stray-Pedersen et al. (2016)</a> identified a homozygous c.5098C-T transition (c.5098C-T, NM_032504.1) in exon 32 of the UNC80 gene, resulting in a pro1700-to-ser (P1700S) substitution at a highly conserved residue. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in the dbSNP, 1000 Genomes Project, or ExAC databases, but was present in heterozygous state in 1 of over 3,000 in-house control exomes. The unaffected mother carried the mutation; DNA from the father was not available. Transfection of the mutation into the mouse gene and HEK293T cells showed that it was expressed normally and associated with UNC79 (<a href="/entry/616884">616884</a>) and NALCN (<a href="/entry/611549">611549</a>), but patch-clamp recording studies showed that the variant had significantly reduced NALCN currents compared to wildtype, consistent with a loss of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26708751" 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>In a 4-year-old girl, born of consanguineous Moroccan parents, with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2; <a href="/entry/616801">616801</a>), <a href="#8" class="mim-tip-reference" title="Stray-Pedersen, A., Cobben, J.-M., Prescott, T. E., Lee, S., Cang, C., Aranda, K., Ahmed, S., Alders, M., Gerstner, T., Aslaksen, K., Tetreault, M., Qin, W., and 10 others. <strong>Biallelic mutations in UNC80 cause persistent hypotonia, encephalopathy, growth retardation, and severe intellectual disability.</strong> Am. J. Hum. Genet. 98: 202-209, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26708751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26708751</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26708751[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/10.1016/j.ajhg.2015.11.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26708751">Stray-Pedersen et al. (2016)</a> identified a homozygous c.7607G-C transversion (c.7607G-C, NM_032504.1) in the last nucleotide of exon 50, predicted to result in either an arg2536-to-thr (R2536T) substitution at a highly conserved residue or a splicing defect. Splicing studies could not be performed because UNC80 is not expressed in peripheral leukocytes and additional tissue was not available from the patient. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family, and was not found in the dbSNP, 1000 Genomes Project, or ExAC databases. The mutation was predicted to result in a loss of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26708751" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2</strong>
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<p>In 2 sisters, born of unrelated Norwegian parents, with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2; <a href="/entry/616801">616801</a>), <a href="#8" class="mim-tip-reference" title="Stray-Pedersen, A., Cobben, J.-M., Prescott, T. E., Lee, S., Cang, C., Aranda, K., Ahmed, S., Alders, M., Gerstner, T., Aslaksen, K., Tetreault, M., Qin, W., and 10 others. <strong>Biallelic mutations in UNC80 cause persistent hypotonia, encephalopathy, growth retardation, and severe intellectual disability.</strong> Am. J. Hum. Genet. 98: 202-209, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26708751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26708751</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26708751[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/10.1016/j.ajhg.2015.11.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26708751">Stray-Pedersen et al. (2016)</a> identified compound heterozygous mutations in the UNC80 gene: a 1-bp deletion (c.2033delA, NM_032504.1) in exon 13, resulting in a frameshift and premature termination (Asn678ThrfsTer15) and a c.7757T-A transversion in exon 51, resulting in a leu2586-to-ter (L2586X; <a href="#0004">612636.0004</a>) substitution. The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family, and were not found in the dbSNP, 1000 Genomes Project, or ExAC databases. Functional studies and studies in patient cells were not performed, but the mutations were predicted to result in a loss of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26708751" 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">rs869025319 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs869025319;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs869025319" 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=rs869025319" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the c.7757T-A transversion (c.7757T-A, NM_032504.1) in exon 51 of the UNC80 gene, resulting in a leu2586-to-ter (L2586X) substitution, that was found in compound heterozygous state in a patient with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2; <a href="/entry/616801">616801</a>) by <a href="#8" class="mim-tip-reference" title="Stray-Pedersen, A., Cobben, J.-M., Prescott, T. E., Lee, S., Cang, C., Aranda, K., Ahmed, S., Alders, M., Gerstner, T., Aslaksen, K., Tetreault, M., Qin, W., and 10 others. <strong>Biallelic mutations in UNC80 cause persistent hypotonia, encephalopathy, growth retardation, and severe intellectual disability.</strong> Am. J. Hum. Genet. 98: 202-209, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26708751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26708751</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26708751[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/10.1016/j.ajhg.2015.11.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26708751">Stray-Pedersen et al. (2016)</a>, see <a href="#0003">612636.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26708751" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs864321622 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs864321622;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/rs864321622?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=rs864321622" 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=rs864321622" 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=RCV000203568 OR RCV000207466 OR RCV004719751" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000203568, RCV000207466, RCV004719751" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000203568...</a>
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<p>In 3 children from 2 unrelated consanguineous Saudi Arabian families with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2; <a href="/entry/616801">616801</a>), <a href="#7" class="mim-tip-reference" title="Shamseldin, H. E., Faqeih, E., Alasmari, A., Zaki, M. S., Gleeson, J. G., Alkuraya, F. S. <strong>Mutations in UNC80, encoding part of the UNC79-UNC80-NALCN channel complex, cause autosomal-recessive severe infantile encephalopathy.</strong> Am. J. Hum. Genet. 98: 210-215, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26708753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26708753</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26708753[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/10.1016/j.ajhg.2015.11.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26708753">Shamseldin et al. (2016)</a> identified a homozygous c.3793C-T transition (c.3793C-T, NM_032504.1) in the UNC80 gene, resulting in an arg1265-to-ter (R1265X) substitution. The mutation, which was found by a combination of autozygosity mapping and exome sequencing, was confirmed by Sanger sequencing and segregated with the disorder in the 2 families. It was not found in the ExAC database or in 650 Saudi Arabian control exomes. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26708753" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs200659479 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs200659479;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/rs200659479?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=rs200659479" 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=rs200659479" 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=RCV000203562 OR RCV000207471 OR RCV003556261 OR RCV004528993" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000203562, RCV000207471, RCV003556261, RCV004528993" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000203562...</a>
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<p>In a 7-year-old girl, born of consanguineous Saudi Arabian parents, with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2; <a href="/entry/616801">616801</a>), <a href="#7" class="mim-tip-reference" title="Shamseldin, H. E., Faqeih, E., Alasmari, A., Zaki, M. S., Gleeson, J. G., Alkuraya, F. S. <strong>Mutations in UNC80, encoding part of the UNC79-UNC80-NALCN channel complex, cause autosomal-recessive severe infantile encephalopathy.</strong> Am. J. Hum. Genet. 98: 210-215, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26708753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26708753</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26708753[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/10.1016/j.ajhg.2015.11.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26708753">Shamseldin et al. (2016)</a> identified a homozygous c.1078C-T transition (c.1078C-T, NM_032504.1) in the UNC80 gene, resulting in an arg360-to-ter (R360X) substitution. The mutation, which was found by exome sequencing, was confirmed by Sanger sequencing and segregated with the disorder in the family. It was not found in the ExAC database or in 650 Saudi Arabian control exomes. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26708753" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs864321623 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs864321623;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/rs864321623?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=rs864321623" 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=rs864321623" 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=RCV000203565 OR RCV000207459" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000203565, RCV000207459" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000203565...</a>
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<p>In 2 sisters, born of consanguineous Egyptian parents, with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2; <a href="/entry/616801">616801</a>), <a href="#7" class="mim-tip-reference" title="Shamseldin, H. E., Faqeih, E., Alasmari, A., Zaki, M. S., Gleeson, J. G., Alkuraya, F. S. <strong>Mutations in UNC80, encoding part of the UNC79-UNC80-NALCN channel complex, cause autosomal-recessive severe infantile encephalopathy.</strong> Am. J. Hum. Genet. 98: 210-215, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26708753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26708753</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26708753[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/10.1016/j.ajhg.2015.11.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26708753">Shamseldin et al. (2016)</a> identified a homozygous c.565G-A transition (c.565G-A, NM_032504.1) in the UNC80 gene, resulting in a val189-to-met (V189M) substitution. The mutation, which was found by exome sequencing, was confirmed by Sanger sequencing and segregated with the disorder in the family. It was not found in the ExAC database. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26708753" 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">rs869025320 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs869025320;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs869025320" 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=rs869025320" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 7 children from 2 distantly related consanguineous Bedouin families with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2; <a href="/entry/616801">616801</a>), <a href="#6" class="mim-tip-reference" title="Perez, Y., Kadir, R., Volodarsky, M., Noyman, I., Flusser, H., Shorer, Z., Gradstein, L., Birnbaum, R. Y., Birk, O. S. <strong>UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN.</strong> J. Med. Genet. 53: 397-402, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26545877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26545877</a>] [<a href="https://doi.org/10.1136/jmedgenet-2015-103352" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26545877">Perez et al. (2016)</a> identified a homozygous c.151C-T transition in exon 3 of the UNC80 gene, resulting in an arg51-to-ter (R51X) substitution. The mutation, which was found by a combination of homozygosity mapping and whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and was not found in the dbSNP, 1000 Genomes Project, or Exome Sequencing Project databases. It was found in the heterozygous state in 1 of 150 ethnically-matched controls. Western blot analysis of cells transfected with the mutant transcript showed absence of the UNC80 protein, consistent with a loss of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26545877" 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>
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<a id="references"class="mim-anchor"></a>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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 id="mimReferencesFold" class="collapse in mimTextToggleFold">
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<ol>
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<li>
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<a id="1" class="mim-anchor"></a>
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<a id="Gross2018" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 4/10/2018.
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</p>
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<li>
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<a id="2" class="mim-anchor"></a>
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<a id="Jospin2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Jospin, M., Watanabe, S., Joshi, D., Young, S., Hamming, K., Thacker, C., Snutch, T. P., Jorgensen, E. M., Schuske, K.
|
|
<strong>UNC-80 and the NCA ion channels contribute to endocytosis defects in synaptojanin mutants.</strong>
|
|
Curr. Biol. 17: 1595-1600, 2007.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17825559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17825559</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17825559" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.cub.2007.08.036" 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="Lu2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lu, B., Su, Y., Das, S., Wang, H., Wang, Y., Liu, J., Ren, D.
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|
<strong>Peptide neurotransmitters activate a cation channel complex of NALCN and UNC-80.</strong>
|
|
Nature 457: 741-744, 2009.
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19092807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19092807</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19092807[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=19092807" 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/10.1038/nature07579" 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="Lu2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lu, B., Zhang, Q., Wang, H., Wang, Y., Nakayama, M., Ren, D.
|
|
<strong>Extracellular calcium controls background current and neuronal excitability via an UNC79-UNC80-NALCN cation channel complex.</strong>
|
|
Neuron 68: 488-499, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21040849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21040849</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21040849[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=21040849" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.neuron.2010.09.014" 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="Nagase2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nagase, T., Nakayama, M., Nakajima, D., Kikuno, R., Ohara, O.
|
|
<strong>Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
|
|
DNA Res. 8: 85-95, 2001.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11347906/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11347906</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11347906" 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/dnares/8.2.85" 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="Perez2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Perez, Y., Kadir, R., Volodarsky, M., Noyman, I., Flusser, H., Shorer, Z., Gradstein, L., Birnbaum, R. Y., Birk, O. S.
|
|
<strong>UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN.</strong>
|
|
J. Med. Genet. 53: 397-402, 2016.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26545877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26545877</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26545877" 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/10.1136/jmedgenet-2015-103352" 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="7" class="mim-anchor"></a>
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<a id="Shamseldin2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shamseldin, H. E., Faqeih, E., Alasmari, A., Zaki, M. S., Gleeson, J. G., Alkuraya, F. S.
|
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<strong>Mutations in UNC80, encoding part of the UNC79-UNC80-NALCN channel complex, cause autosomal-recessive severe infantile encephalopathy.</strong>
|
|
Am. J. Hum. Genet. 98: 210-215, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26708753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26708753</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26708753[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=26708753" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2015.11.013" 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="8" class="mim-anchor"></a>
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<a id="Stray-Pedersen2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stray-Pedersen, A., Cobben, J.-M., Prescott, T. E., Lee, S., Cang, C., Aranda, K., Ahmed, S., Alders, M., Gerstner, T., Aslaksen, K., Tetreault, M., Qin, W., and 10 others.
|
|
<strong>Biallelic mutations in UNC80 cause persistent hypotonia, encephalopathy, growth retardation, and severe intellectual disability.</strong>
|
|
Am. J. Hum. Genet. 98: 202-209, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26708751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26708751</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26708751[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=26708751" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2015.11.004" target="_blank">Full Text</a>]
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</p>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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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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Matthew B. Gross - updated : 04/10/2018
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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 : 3/30/2016<br>Cassandra L. Kniffin - updated : 2/10/2016<br>Ada Hamosh - updated : 2/24/2009
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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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Patricia A. Hartz : 2/23/2009
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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="editHistory" 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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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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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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carol : 09/09/2019
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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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mgross : 04/10/2018<br>carol : 04/10/2018<br>alopez : 04/09/2018<br>carol : 06/14/2016<br>alopez : 3/30/2016<br>alopez : 3/29/2016<br>carol : 3/3/2016<br>carol : 2/11/2016<br>ckniffin : 2/10/2016<br>alopez : 2/24/2009<br>mgross : 2/23/2009
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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>
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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> 612636
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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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UNC80 HOMOLOG, NALCN CHANNEL COMPLEX SUBUNIT; UNC80
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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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UNC80, C. ELEGANS, HOMOLOG OF<br />
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CHROMOSOME 2 OPEN READING FRAME 21; C2ORF21<br />
|
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KIAA1843
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: UNC80</em></strong>
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</span>
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</p>
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</div>
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<div>
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<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: 2q34
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Genomic coordinates <span class="small">(GRCh38)</span> : 2:209,771,832-209,999,296 </span>
|
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</em>
|
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</strong>
|
|
<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>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
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<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
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<tr>
|
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<td rowspan="1">
|
|
<span class="mim-font">
|
|
2q34
|
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</span>
|
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</td>
|
|
|
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|
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<td>
|
|
<span class="mim-font">
|
|
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
616801
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</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>
|
|
</span>
|
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</h4>
|
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</div>
|
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<span class="mim-text-font">
|
|
<p>The UNC80 gene encodes a large protein necessary for the stability and function of the NALCN (611549) sodium leak channel and for bridging NALCN to UNC79 (616884) to form a functional complex (summary by Shamseldin et al., 2016). </p>
|
|
</span>
|
|
<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">
|
|
<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>By sequencing clones obtained from an adult hippocampus cDNA library, Nagase et al. (2001) cloned C2ORF21, which they designated KIAA1843. The deduced protein contains 1,341 amino acids. RT-PCR ELISA detected C2ORF21 expression in adult and fetal brain and in all specific adult brain regions examined. Very low expression was detected in testis and pancreas, and no expression was detected in other adult and fetal tissues examined. </p><p>Jospin et al. (2007) cloned Unc80, the C. elegans ortholog of C2ORF21. The deduced protein contains 3,184 amino acids. Fluorescence-tagged Unc80 was highly expressed throughout the worm nervous system, as well as in other tissues. </p><p>Lu et al. (2009) cloned a mammalian UNC80 homolog from mouse brain. The UNC80 gene was predicted to encode a 371-kD protein with 96% identity with its human homolog. </p><p>Shamseldin et al. (2016) found that murine Unc80 was nearly exclusively expressed in the adult brain. </p><p>Perez et al. (2016) found expression of the UNC80 gene in multiple human tissues, with highest expression in the adrenal gland, prostate, testis, brain, and cerebellum. </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>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By radiation hybrid analysis, Nagase et al. (2001) mapped the C2ORF21 gene to chromosome 2. </p><p>Gross (2018) mapped the UNC80 gene to chromosome 2q34 based on an alignment of the UNC80 sequence (GenBank BC136690) with the genomic sequence (GRCh38).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Jospin et al. (2007) found that C. elegans Unc80 was required for proper localization or stabilization of axonal NCA ion channel components, which are homologous to the vertebrate NALCN channel (611549). </p><p>Lu et al. (2009) showed that, in the mouse hippocampal and ventral tegmental area neurons, substance P (see 162320) and neurotensin (162650) activate a channel complex containing NALCN and the large protein UNC80. The activation of substance P through its G protein-coupled receptor TACR1 (162323) occurs by means of a unique mechanism: it does not require G protein activation but is dependent on Src family kinases. Lu et al. (2009) suggested that their findings identified NALCN as the cation channel activated by substance P receptor, and suggested that UNC80 and Src family kinases, rather than a G protein, are involved in the coupling from receptor to channel. </p><p>By immunoprecipitation analysis of mouse brain, Lu et al. (2010) found that Unc79 (616884) precipitated with Unc80 and Nalcn. Use of Nalcn -/- and Unc79 -/- mouse hippocampal neurons and transfection in human cell lines revealed that both Nalcn and Unc79 interacted directly with Unc80, but not with each other. Leak currents generated by Nalcn alone were insensitive to extracellular Ca(2+), and Unc80 provided Ca2+ sensitivity. Unc79 appeared to contribute to Ca2+ sensitivity of Nalcn currents by interacting with Unc80 and stabilizing Unc80 protein level. Inhibition of a Ca(2+)-sensitive G protein, possibly Casr (601199), countered Ca(2+) sensitivity of Nalcn currents. Unc79 -/- mice have disrupted breathing rhythms, fail to nurse, and die within the first days of life. Lu et al. (2010) found that Unc79 -/- hippocampal neurons showed normal Nalcn-dependent Na+ leak currents, but their leak currents were largely insensitive to changes in extracellular Ca(2+) concentration. Overexpression of Unc80 could bypass the requirement for Unc79 and rescue extracellular Ca(2+) sensitivity. Lu et al. (2010) concluded that extracellular Ca(2+) sensitivity of Nalcn leak currents is dependent upon Unc80, but that Unc79 may contribute to Ca(2+) sensitivity, possibly by stabilizing Unc80 protein levels. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 4 girls from 3 unrelated families with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2; 616801), Stray-Pedersen et al. (2016) identified biallelic mutations on the UNC80 gene (612636.0001-612636.0004). The mutations, which were found by exome sequencing, were predicted to result in a loss of function. In vitro studies of 1 of the mutations (P1700S; 612636.0001) showed that it was expressed normally and associated with UNC79 and NALCN (611549), but patch-clamp recording studies showed that the variant had significantly reduced NALCN currents compared to wildtype. </p><p>In 6 living children from 4 unrelated consanguineous families with IHPRF2, Shamseldin et al. (2016) identified 3 different homozygous mutations in the UNC80 gene (612636.0005-613636.0007). Two of the mutations were truncating and 1 was missense; functional studies of the variant and studies of patient cells were not performed. </p><p>In 7 children from 2 distantly related consanguineous Bedouin families with IHPRF2, Perez et al. (2016) identified a homozygous nonsense mutation in the UNC80 gene (R51X; 612636.0008). The mutation, which was found by a combination of homozygosity mapping and whole-exome sequencing, segregated with the disorder. Western blot analysis of cells transfected with the mutant transcript showed absence of the UNC80 protein, consistent with a loss of function. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>8 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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|
</div>
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<div>
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<div>
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<h4>
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|
<span class="mim-font">
|
|
<strong>.0001 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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UNC80, PRO1700SER
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<br />
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SNP: rs869025316,
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gnomAD: rs869025316,
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ClinVar: RCV000207456, RCV001753625, RCV004701273
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|
</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a 4-year-old girl, born of consanguineous Iraqi parents, with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2; 616801), Stray-Pedersen et al. (2016) identified a homozygous c.5098C-T transition (c.5098C-T, NM_032504.1) in exon 32 of the UNC80 gene, resulting in a pro1700-to-ser (P1700S) substitution at a highly conserved residue. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in the dbSNP, 1000 Genomes Project, or ExAC databases, but was present in heterozygous state in 1 of over 3,000 in-house control exomes. The unaffected mother carried the mutation; DNA from the father was not available. Transfection of the mutation into the mouse gene and HEK293T cells showed that it was expressed normally and associated with UNC79 (616884) and NALCN (611549), but patch-clamp recording studies showed that the variant had significantly reduced NALCN currents compared to wildtype, consistent with a loss of function. </p>
|
|
</span>
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|
</div>
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<div>
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<br />
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|
</div>
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</div>
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<div>
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<div>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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|
|
UNC80, ARG2536THR
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|
<br />
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|
|
SNP: rs869025317,
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|
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|
|
|
|
|
ClinVar: RCV000207464
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|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 4-year-old girl, born of consanguineous Moroccan parents, with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2; 616801), Stray-Pedersen et al. (2016) identified a homozygous c.7607G-C transversion (c.7607G-C, NM_032504.1) in the last nucleotide of exon 50, predicted to result in either an arg2536-to-thr (R2536T) substitution at a highly conserved residue or a splicing defect. Splicing studies could not be performed because UNC80 is not expressed in peripheral leukocytes and additional tissue was not available from the patient. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family, and was not found in the dbSNP, 1000 Genomes Project, or ExAC databases. The mutation was predicted to result in a loss of function. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
UNC80, 1-BP DEL, 2033A
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs869025318,
|
|
|
|
|
|
|
|
ClinVar: RCV000207469
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sisters, born of unrelated Norwegian parents, with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2; 616801), Stray-Pedersen et al. (2016) identified compound heterozygous mutations in the UNC80 gene: a 1-bp deletion (c.2033delA, NM_032504.1) in exon 13, resulting in a frameshift and premature termination (Asn678ThrfsTer15) and a c.7757T-A transversion in exon 51, resulting in a leu2586-to-ter (L2586X; 612636.0004) substitution. The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family, and were not found in the dbSNP, 1000 Genomes Project, or ExAC databases. Functional studies and studies in patient cells were not performed, but the mutations were predicted to result in a loss of function. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
UNC80, LEU2586TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs869025319,
|
|
|
|
|
|
|
|
ClinVar: RCV000207460
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.7757T-A transversion (c.7757T-A, NM_032504.1) in exon 51 of the UNC80 gene, resulting in a leu2586-to-ter (L2586X) substitution, that was found in compound heterozygous state in a patient with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2; 616801) by Stray-Pedersen et al. (2016), see 612636.0003. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
UNC80, ARG1265TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs864321622,
|
|
|
|
|
|
gnomAD: rs864321622,
|
|
|
|
|
|
ClinVar: RCV000203568, RCV000207466, RCV004719751
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 children from 2 unrelated consanguineous Saudi Arabian families with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2; 616801), Shamseldin et al. (2016) identified a homozygous c.3793C-T transition (c.3793C-T, NM_032504.1) in the UNC80 gene, resulting in an arg1265-to-ter (R1265X) substitution. The mutation, which was found by a combination of autozygosity mapping and exome sequencing, was confirmed by Sanger sequencing and segregated with the disorder in the 2 families. It was not found in the ExAC database or in 650 Saudi Arabian control exomes. Functional studies of the variant and studies of patient cells were not performed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
UNC80, ARG360TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs200659479,
|
|
|
|
|
|
gnomAD: rs200659479,
|
|
|
|
|
|
ClinVar: RCV000203562, RCV000207471, RCV003556261, RCV004528993
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 7-year-old girl, born of consanguineous Saudi Arabian parents, with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2; 616801), Shamseldin et al. (2016) identified a homozygous c.1078C-T transition (c.1078C-T, NM_032504.1) in the UNC80 gene, resulting in an arg360-to-ter (R360X) substitution. The mutation, which was found by exome sequencing, was confirmed by Sanger sequencing and segregated with the disorder in the family. It was not found in the ExAC database or in 650 Saudi Arabian control exomes. Functional studies of the variant and studies of patient cells were not performed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
UNC80, VAL189MET
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs864321623,
|
|
|
|
|
|
gnomAD: rs864321623,
|
|
|
|
|
|
ClinVar: RCV000203565, RCV000207459
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sisters, born of consanguineous Egyptian parents, with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2; 616801), Shamseldin et al. (2016) identified a homozygous c.565G-A transition (c.565G-A, NM_032504.1) in the UNC80 gene, resulting in a val189-to-met (V189M) substitution. The mutation, which was found by exome sequencing, was confirmed by Sanger sequencing and segregated with the disorder in the family. It was not found in the ExAC database. Functional studies of the variant and studies of patient cells were not performed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
UNC80, ARG51TER
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|
|
|
|
|
<br />
|
|
|
|
SNP: rs869025320,
|
|
|
|
|
|
|
|
ClinVar: RCV000207465
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 7 children from 2 distantly related consanguineous Bedouin families with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2; 616801), Perez et al. (2016) identified a homozygous c.151C-T transition in exon 3 of the UNC80 gene, resulting in an arg51-to-ter (R51X) substitution. The mutation, which was found by a combination of homozygosity mapping and whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and was not found in the dbSNP, 1000 Genomes Project, or Exome Sequencing Project databases. It was found in the heterozygous state in 1 of 150 ethnically-matched controls. Western blot analysis of cells transfected with the mutant transcript showed absence of the UNC80 protein, consistent with a loss of function. </p>
|
|
</span>
|
|
</div>
|
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<div>
|
|
<br />
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</div>
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gross, M. B.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 4/10/2018.
|
|
|
|
</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Jospin, M., Watanabe, S., Joshi, D., Young, S., Hamming, K., Thacker, C., Snutch, T. P., Jorgensen, E. M., Schuske, K.
|
|
<strong>UNC-80 and the NCA ion channels contribute to endocytosis defects in synaptojanin mutants.</strong>
|
|
Curr. Biol. 17: 1595-1600, 2007.
|
|
|
|
|
|
[PubMed: 17825559]
|
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|
|
[Full Text: https://doi.org/10.1016/j.cub.2007.08.036]
|
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</p>
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Lu, B., Su, Y., Das, S., Wang, H., Wang, Y., Liu, J., Ren, D.
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<strong>Peptide neurotransmitters activate a cation channel complex of NALCN and UNC-80.</strong>
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Nature 457: 741-744, 2009.
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[PubMed: 19092807]
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[Full Text: https://doi.org/10.1038/nature07579]
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Lu, B., Zhang, Q., Wang, H., Wang, Y., Nakayama, M., Ren, D.
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<strong>Extracellular calcium controls background current and neuronal excitability via an UNC79-UNC80-NALCN cation channel complex.</strong>
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Neuron 68: 488-499, 2010.
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[PubMed: 21040849]
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[Full Text: https://doi.org/10.1016/j.neuron.2010.09.014]
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Nagase, T., Nakayama, M., Nakajima, D., Kikuno, R., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
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DNA Res. 8: 85-95, 2001.
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[PubMed: 11347906]
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[Full Text: https://doi.org/10.1093/dnares/8.2.85]
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Perez, Y., Kadir, R., Volodarsky, M., Noyman, I., Flusser, H., Shorer, Z., Gradstein, L., Birnbaum, R. Y., Birk, O. S.
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<strong>UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN.</strong>
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J. Med. Genet. 53: 397-402, 2016.
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[PubMed: 26545877]
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[Full Text: https://doi.org/10.1136/jmedgenet-2015-103352]
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Shamseldin, H. E., Faqeih, E., Alasmari, A., Zaki, M. S., Gleeson, J. G., Alkuraya, F. S.
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<strong>Mutations in UNC80, encoding part of the UNC79-UNC80-NALCN channel complex, cause autosomal-recessive severe infantile encephalopathy.</strong>
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Am. J. Hum. Genet. 98: 210-215, 2016.
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[PubMed: 26708753]
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[Full Text: https://doi.org/10.1016/j.ajhg.2015.11.013]
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Stray-Pedersen, A., Cobben, J.-M., Prescott, T. E., Lee, S., Cang, C., Aranda, K., Ahmed, S., Alders, M., Gerstner, T., Aslaksen, K., Tetreault, M., Qin, W., and 10 others.
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<strong>Biallelic mutations in UNC80 cause persistent hypotonia, encephalopathy, growth retardation, and severe intellectual disability.</strong>
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Am. J. Hum. Genet. 98: 202-209, 2016.
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[PubMed: 26708751]
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[Full Text: https://doi.org/10.1016/j.ajhg.2015.11.004]
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Matthew B. Gross - updated : 04/10/2018<br>Patricia A. Hartz - updated : 3/30/2016<br>Cassandra L. Kniffin - updated : 2/10/2016<br>Ada Hamosh - updated : 2/24/2009
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carol : 09/09/2019<br>mgross : 04/10/2018<br>carol : 04/10/2018<br>alopez : 04/09/2018<br>carol : 06/14/2016<br>alopez : 3/30/2016<br>alopez : 3/29/2016<br>carol : 3/3/2016<br>carol : 2/11/2016<br>ckniffin : 2/10/2016<br>alopez : 2/24/2009<br>mgross : 2/23/2009
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