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Entry
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- *613128 - STN1, CST COMPLEX SUBUNIT; STN1
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*613128</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/613128">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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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000107960;t=ENST00000224950" 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=79991" 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=613128" 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 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=ENSG00000107960;t=ENST00000224950" 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_024928" 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_024928" 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=613128" 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=14872&isoform_id=14872_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/STN1" 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/10438990,16924252,62900737,119570004,119570005,194394165" 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/Q9H668" 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=79991" 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=ENSG00000107960;t=ENST00000224950" 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=STN1" 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=STN1" 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+79991" 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/STN1" 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:79991" 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/79991" 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=chr10&hgg_gene=ENST00000698239.1&hgg_start=103877569&hgg_end=103918184&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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=613128[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=613128[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/STN1/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/ENSG00000107960" 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=STN1" 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=STN1" 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=STN1" 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=STN1&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/PA134987118" 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:26200" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1915581" 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/STN1#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:1915581" 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/79991/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://omia.org/OMIA002035/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=79991" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-040426-1390" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
|
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</a>
|
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</span>
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</span>
|
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=STN1&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>
|
|
613128
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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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STN1, CST COMPLEX SUBUNIT; STN1
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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>
|
|
<span class="mim-font">
|
|
STN1, S. POMBE, HOMOLOG OF; STN1 ALPHA ACCESSORY FACTOR, 44-KD SUBUNIT; AAF44<br />
|
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OLIGONUCLEOTIDE/OLIGOSACCHARIDE-BINDING FOLD-CONTAINING PROTEIN 1; OBFC1
|
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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=STN1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">STN1</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/10/541?start=-3&limit=10&highlight=541">10q24.33</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr10:103877569-103918184&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'})">10:103,877,569-103,918,184</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/10/541?start=-3&limit=10&highlight=541">
|
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10q24.33
|
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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">
|
|
Cerebroretinal microangiopathy with calcifications and cysts 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/617341"> 617341 </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">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/613128" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/613128" 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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<div>
|
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>The STN1 gene encodes a member of the human CTC1 (<a href="/entry/613129">613129</a>)-STN1- TEN1 (<a href="/entry/613130">613130</a>) (CST) complex, which plays a role in telomere C-strand synthesis as well as in genomewide replication and the recovery from replication stress (<a href="#7" class="mim-tip-reference" title="Miyake, Y., Nakamura, M., Nabetani, A., Shimamura, S., Tamura, M., Yonehara, S., Saito, M., Ishikawa, F. <strong>RPA-like mammalian Ctc1-Stn1-Ten1 complex binds to single-stranded DNA and protects telomeres independently of the Pot1 pathway.</strong> Molec. Cell 36: 193-206, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19854130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19854130</a>] [<a href="https://doi.org/10.1016/j.molcel.2009.08.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19854130">Miyake et al., 2009</a>; summary by <a href="#8" class="mim-tip-reference" title="Simon, A. J., Lev, A., Zhang, Y., Weiss, B., Rylova, A., Eyal, E., Kol, N., Barel, O., Cesarkas, K., Soudack, M., Greenberg-Kushnir, N., Rhodes, M., and 21 others. <strong>Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.</strong> J. Exp. Med. 213: 1429-1440, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27432940/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27432940</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27432940[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/10.1084/jem.20151618" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27432940">Simon et al., 2016</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=27432940+19854130" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Casteel, D. E., Zhuang, S., Zeng, Y., Perrino, F. W., Boss, G. R., Goulian, M., Pilz, R. B. <strong>A DNA polymerase-alpha-primase cofactor with homology to replication protein A-32 regulates DNA replication in mammalian cells.</strong> J. Biol. Chem. 284: 5807-5818, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19119139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19119139</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19119139[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/10.1074/jbc.M807593200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19119139">Casteel et al. (2009)</a> cloned mouse Obfc1, which they called Aaf44. The deduced 378-amino acid protein contains an oligonucleotide/oligosaccharide-binding (OB) fold domain that is predicted to bind single-stranded DNA (ssDNA). Database analysis revealed Aaf44 orthologs in several species, including human. The human AAF44 protein shares 71% identity with mouse Aaf44, with highest conservation in the OB fold domain. Northern blot analysis detected low and variable Aaf44 expression in several mouse tissues. Endogenous Aaf44 protein had an apparent molecular mass of 44 kD by SDS-PAGE. Aaf44 and Aaf132 (Ctc1; <a href="/entry/613129">613129</a>) colocalized in nuclei of transfected synchronized HeLa cells, with exclusion from nucleoli. The 2 proteins colocalized with PCNA (<a href="/entry/176740">176740</a>), presumably within DNA replication foci. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19119139" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By searching databases for sequences similar to S. pombe Stn1, followed by RT-PCR of HeLa cell mRNA, <a href="#7" class="mim-tip-reference" title="Miyake, Y., Nakamura, M., Nabetani, A., Shimamura, S., Tamura, M., Yonehara, S., Saito, M., Ishikawa, F. <strong>RPA-like mammalian Ctc1-Stn1-Ten1 complex binds to single-stranded DNA and protects telomeres independently of the Pot1 pathway.</strong> Molec. Cell 36: 193-206, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19854130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19854130</a>] [<a href="https://doi.org/10.1016/j.molcel.2009.08.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19854130">Miyake et al. (2009)</a> cloned OBFC1, which they called STN1. The deduced 368-amino acid protein contains an N-terminal OB fold. Immunohistochemical analysis and FISH revealed that STN1 colocalized with telomeric DNA. It did not appear to localize with replication foci. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19854130" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Hartz, P. A. <strong>Personal Communication.</strong> Baltimore, Md. 11/20/2009."None>Hartz (2009)</a> mapped the STN1 gene to chromosome 10q24.33 based on an alignment of the STN1 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AK026212" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AK026212</a>) with the genomic sequence (GRCh37).</p><p><a href="#1" class="mim-tip-reference" title="Casteel, D. E., Zhuang, S., Zeng, Y., Perrino, F. W., Boss, G. R., Goulian, M., Pilz, R. B. <strong>A DNA polymerase-alpha-primase cofactor with homology to replication protein A-32 regulates DNA replication in mammalian cells.</strong> J. Biol. Chem. 284: 5807-5818, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19119139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19119139</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19119139[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/10.1074/jbc.M807593200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19119139">Casteel et al. (2009)</a> mapped the mouse Stn1 gene to chromosome 19. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19119139" 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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The CTC1 (<a href="/entry/613129">613129</a>)-STN1-TEN1 (<a href="/entry/613130">613130</a>) complex, also known as the CST complex, is essential for telomere maintenance and resolution of stalled replication forks genomewide. <a href="#6" class="mim-tip-reference" title="Lim, C. J., Barbour, A. T., Zaug, A. J., Goodrich, K. J., McKay, A. E., Wuttke, D. S., Cech, T. R. <strong>The structure of human CST reveals a decameric assembly bound to telomeric DNA.</strong> Science 368: 1081-1085, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32499435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32499435</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32499435[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/10.1126/science.aaz9649" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32499435">Lim et al. (2020)</a> reported the 3.0-angstrom cryoelectron microscopy structure of human CST bound to telomeric single-stranded DNA, which assembles as a decameric supercomplex. The atomic model of the 134-kD CTC1 subunit, built almost entirely de novo, revealed the overall architecture of CST and the DNA-binding anchor site. The carboxyl-terminal domain of STN1 interacts with CTC1 at 2 separate docking sites, allowing allosteric mediation of CST decamer assembly. Furthermore, ssDNA appears to staple 2 monomers to nucleate decamer assembly. CTC1 has stronger structural similarity to replication protein A (RPA; see <a href="/entry/179835">179835</a>) than the expected similarity to yeast Cdc13. The decameric structure suggested that CST can organize ssDNA analogously to the nucleosome's organization of double-stranded DNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32499435" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using immunoprecipitation analysis, <a href="#1" class="mim-tip-reference" title="Casteel, D. E., Zhuang, S., Zeng, Y., Perrino, F. W., Boss, G. R., Goulian, M., Pilz, R. B. <strong>A DNA polymerase-alpha-primase cofactor with homology to replication protein A-32 regulates DNA replication in mammalian cells.</strong> J. Biol. Chem. 284: 5807-5818, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19119139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19119139</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19119139[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/10.1074/jbc.M807593200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19119139">Casteel et al. (2009)</a> showed that epitope-tagged mouse Aaf44 and Aaf132 interacted in transfected HEK293 cells. Expression of Aaf44 appeared to stabilize the Aaf132 protein. When expressed individually, Aaf44 and Aaf132 weakly bound single-stranded oligo(dC), but when expressed together, they showed strong ssDNA binding. When coexpressed, Aaf44 and Aaf132 formed an AAF complex that stimulated DNA primase activity by calf or human polymerase-alpha-primase (see <a href="/entry/176636">176636</a>) on a poly(dT) template. Small interfering RNA directed against AAF44 in human cell lines inhibited DNA synthesis, but did not affect cell viability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19119139" 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>Using Western blot analysis of coimmunoprecipitated proteins and yeast 2-hybrid assays, <a href="#7" class="mim-tip-reference" title="Miyake, Y., Nakamura, M., Nabetani, A., Shimamura, S., Tamura, M., Yonehara, S., Saito, M., Ishikawa, F. <strong>RPA-like mammalian Ctc1-Stn1-Ten1 complex binds to single-stranded DNA and protects telomeres independently of the Pot1 pathway.</strong> Molec. Cell 36: 193-206, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19854130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19854130</a>] [<a href="https://doi.org/10.1016/j.molcel.2009.08.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19854130">Miyake et al. (2009)</a> showed that STN1 interacted with CTC1 and TEN1 in a complex, which the authors called the CST complex. STN1 interacted with both CTC1 and TEN1, but CTC1 and TEN1 did not show significant interaction. The CST complex immunoprecipitated telomeric DNA, but not Alu repeat DNA, from HeLa cells. Only a fraction of telomeres associated with the CST complex, and association of the CST complex with telomeres did not vary during the cell cycle. The CST complex, but not its individual components, bound ssDNA with high affinity and in a sequence-independent manner. The CST complex appeared to protect telomeres independently of POT1 (<a href="/entry/606478">606478</a>). Knockdown studies suggested that the CST complex and POT1 play redundant roles in telomere protection. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19854130" 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="Chen, L.-Y., Redon, S., Lingner, J. <strong>The human CST complex is a terminator of telomerase activity.</strong> Nature 488: 540-544, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22763445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22763445</a>] [<a href="https://doi.org/10.1038/nature11269" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22763445">Chen et al. (2012)</a> demonstrated that the human CST complex, implicated in telomere protection and DNA metabolism, inhibits telomerase (see <a href="/entry/602322">602322</a>) activity through primer sequestration and physical interaction with the protection of telomeres 1 (POT1)-TPP1 (<a href="/entry/609377">609377</a>) telomerase processivity factor. CST competes with POT1-TPP1 for telomeric DNA, and CST-telomeric-DNA binding increases during late S/G2 phase only on telomerase action, coinciding with telomerase shut-off. Depletion of CST allows excessive telomerase activity, promoting telomere elongation. <a href="#2" class="mim-tip-reference" title="Chen, L.-Y., Redon, S., Lingner, J. <strong>The human CST complex is a terminator of telomerase activity.</strong> Nature 488: 540-544, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22763445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22763445</a>] [<a href="https://doi.org/10.1038/nature11269" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22763445">Chen et al. (2012)</a> proposed that through binding of the telomerase-extended telomere, CST limits telomerase action at individual telomeres to approximately one binding and extension event per cell cycle. The authors suggested that their findings defined the sequence of events that occur to first enable and then terminate telomerase-mediated telomere elongation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22763445" 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="#4" class="mim-tip-reference" title="Gu, P., Chang, S. <strong>Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus.</strong> Aging Cell 12: 1100-1109, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23869908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23869908</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23869908[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/10.1111/acel.12139" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23869908">Gu and Chang (2013)</a> found that CTC1 mutations associated with Coats plus syndrome (CRMCC1; <a href="/entry/612199">612199</a>) promoted telomere dysfunction by decreasing the stability of STN1 and reducing the ability of STN1 to interact with DNA polymerase-alpha (POLA; see <a href="/entry/312040">312040</a>). They proposed that failure of STN1 to interact with POLA would make inactivating STN1 mutations incompatible with survival. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23869908" 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>Using purified recombinant proteins, <a href="#3" class="mim-tip-reference" title="Ganduri, S., Lue, N. F. <strong>STN1-POLA2 interaction provides a basis for primase-pol alpha stimulation by human STN1.</strong> Nucleic Acids Res. 45: 9455-9466, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28934486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28934486</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28934486[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/10.1093/nar/gkx621" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28934486">Ganduri and Lue (2017)</a> showed that the STN1 component of the CST complex alone stimulated the synthesis of RNA-DNA chimeras by human primase-polymerase-alpha (PP; see <a href="/entry/620063">620063</a>), primarily by affecting the coupling between primase and polymerase. Mutation analysis revealed that the PP-stimulatory activity of STN1 resided predominantly in its N-terminal OB fold domain. The OB fold directly interacted with POLA2 and also bound to single-stranded DNA. These binding activities of STN1 were, however, separable, and the PP stimulatory activity of STN1 was related to its POLA2-binding activity rather than its DNA-binding activity. The main interaction between human POLA2 and STN1 occurred through their OB fold domains. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28934486" 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 2 unrelated patients, both born of consanguineous Pakistani parents, with cerebroretinal microangiopathy with calcifications and cysts-2 (CRMCC2; <a href="/entry/617341">617341</a>), <a href="#8" class="mim-tip-reference" title="Simon, A. J., Lev, A., Zhang, Y., Weiss, B., Rylova, A., Eyal, E., Kol, N., Barel, O., Cesarkas, K., Soudack, M., Greenberg-Kushnir, N., Rhodes, M., and 21 others. <strong>Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.</strong> J. Exp. Med. 213: 1429-1440, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27432940/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27432940</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27432940[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/10.1084/jem.20151618" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27432940">Simon et al. (2016)</a> identified different homozygous missense mutations in the STN1 gene (R135T, <a href="#0001">613128.0001</a> and D157Y, <a href="#0002">613128.0002</a>). The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the families. Patient fibroblasts were abnormally large, contained cytoplasmic vacuoles and extended podia, and grew poorly due to replication defects. The cells showed premature cellular senescence and increased apoptotic nuclei compared to controls, as well as micronuclei and torn DNA nuclear bridges. Cells showed several replication defects, including a decreased ability to release cells from S-phase and attenuation in the recovery from replication fork stalling after stress. These defects could be rescued with wildtype STN1. Telomere lengths from peripheral blood leukocytes were normal in the first patient, but shortened in the second patient; telomere lengths from fibroblasts were normal in the second patient. However, fibroblasts from both patients showed telomeric defects, such as abnormal telomere C-strand synthesis, fused chromosome ends, and telomere dysfunction-induced foci. <a href="#8" class="mim-tip-reference" title="Simon, A. J., Lev, A., Zhang, Y., Weiss, B., Rylova, A., Eyal, E., Kol, N., Barel, O., Cesarkas, K., Soudack, M., Greenberg-Kushnir, N., Rhodes, M., and 21 others. <strong>Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.</strong> J. Exp. Med. 213: 1429-1440, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27432940/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27432940</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27432940[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/10.1084/jem.20151618" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27432940">Simon et al. (2016)</a> suggested that the long single-stranded G-rich telomere sequences could abrogate telomere protection and activate DNA damage response and repair. Neither mutation could rescue telangiectatic defects observed in zebrafish embryos with morpholino knockdown of the stn1 gene, suggesting that both mutations resulted in a loss of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27432940" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Simon, A. J., Lev, A., Zhang, Y., Weiss, B., Rylova, A., Eyal, E., Kol, N., Barel, O., Cesarkas, K., Soudack, M., Greenberg-Kushnir, N., Rhodes, M., and 21 others. <strong>Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.</strong> J. Exp. Med. 213: 1429-1440, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27432940/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27432940</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27432940[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/10.1084/jem.20151618" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27432940">Simon et al. (2016)</a> found that morpholino knockdown of the stn1 gene in zebrafish embryos resulted in decreased red blood cells and an arrest in T-cell progenitors, as well as increased vascularity. The vascular defects could be rescued by wildtype stn1 and by thalidomide treatment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27432940" 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=613128[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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<p>In a 12-year-old girl, born of consanguineous Pakistani parents, with cerebroretinal microangiopathy with calcifications and cysts-2 (CRMCC2; <a href="/entry/617341">617341</a>), <a href="#8" class="mim-tip-reference" title="Simon, A. J., Lev, A., Zhang, Y., Weiss, B., Rylova, A., Eyal, E., Kol, N., Barel, O., Cesarkas, K., Soudack, M., Greenberg-Kushnir, N., Rhodes, M., and 21 others. <strong>Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.</strong> J. Exp. Med. 213: 1429-1440, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27432940/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27432940</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27432940[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/10.1084/jem.20151618" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27432940">Simon et al. (2016)</a> identified a homozygous c.404G-C transversion (c.404G-C, NM_024928) in exon 5 of the STN1 gene, resulting in an arg135-to-thr (R135T) substitution at a highly conserved residue. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not found in the dbSNP (build 135), 1000 Genomes Project, or Exome Sequencing Project databases, or in 160 ethnically matched controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27432940" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs765462548 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs765462548;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/rs765462548?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=rs765462548" 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=rs765462548" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 19-year-old man, born of consanguineous Pakistani parents, with cerebroretinal microangiopathy with calcifications and cysts-2 (CRMCC2; <a href="/entry/617341">617341</a>), <a href="#8" class="mim-tip-reference" title="Simon, A. J., Lev, A., Zhang, Y., Weiss, B., Rylova, A., Eyal, E., Kol, N., Barel, O., Cesarkas, K., Soudack, M., Greenberg-Kushnir, N., Rhodes, M., and 21 others. <strong>Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.</strong> J. Exp. Med. 213: 1429-1440, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27432940/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27432940</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27432940[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/10.1084/jem.20151618" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27432940">Simon et al. (2016)</a> identified a homozygous c.469G-T transversion (c.469G-T, NM_024928) in exon 6 of the STN1 gene, resulting in an asp157-to-tyr (D157Y) substitution at a highly conserved residue. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not found in the dbSNP (build 135), 1000 Genomes Project, or Exome Sequencing Project databases, or in 160 ethnically matched controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27432940" 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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Casteel, D. E., Zhuang, S., Zeng, Y., Perrino, F. W., Boss, G. R., Goulian, M., Pilz, R. B.
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<strong>A DNA polymerase-alpha-primase cofactor with homology to replication protein A-32 regulates DNA replication in mammalian cells.</strong>
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J. Biol. Chem. 284: 5807-5818, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19119139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19119139</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19119139[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=19119139" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.M807593200" target="_blank">Full Text</a>]
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Chen, L.-Y., Redon, S., Lingner, J.
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<strong>The human CST complex is a terminator of telomerase activity.</strong>
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Nature 488: 540-544, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22763445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22763445</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22763445" 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/nature11269" target="_blank">Full Text</a>]
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<strong>STN1-POLA2 interaction provides a basis for primase-pol alpha stimulation by human STN1.</strong>
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Nucleic Acids Res. 45: 9455-9466, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28934486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28934486</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28934486[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=28934486" 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/nar/gkx621" target="_blank">Full Text</a>]
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<strong>Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus.</strong>
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Aging Cell 12: 1100-1109, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23869908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23869908</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23869908[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=23869908" 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/10.1111/acel.12139" 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="Hartz2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Hartz, P. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 11/20/2009.
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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="Lim2020" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lim, C. J., Barbour, A. T., Zaug, A. J., Goodrich, K. J., McKay, A. E., Wuttke, D. S., Cech, T. R.
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<strong>The structure of human CST reveals a decameric assembly bound to telomeric DNA.</strong>
|
|
Science 368: 1081-1085, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32499435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32499435</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32499435[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=32499435" 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/10.1126/science.aaz9649" 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="Miyake2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Miyake, Y., Nakamura, M., Nabetani, A., Shimamura, S., Tamura, M., Yonehara, S., Saito, M., Ishikawa, F.
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|
<strong>RPA-like mammalian Ctc1-Stn1-Ten1 complex binds to single-stranded DNA and protects telomeres independently of the Pot1 pathway.</strong>
|
|
Molec. Cell 36: 193-206, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19854130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19854130</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19854130" 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.molcel.2009.08.009" 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="Simon2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Simon, A. J., Lev, A., Zhang, Y., Weiss, B., Rylova, A., Eyal, E., Kol, N., Barel, O., Cesarkas, K., Soudack, M., Greenberg-Kushnir, N., Rhodes, M., and 21 others.
|
|
<strong>Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.</strong>
|
|
J. Exp. Med. 213: 1429-1440, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27432940/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27432940</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27432940[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=27432940" 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/10.1084/jem.20151618" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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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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Bao Lige - updated : 09/29/2022
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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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Ada Hamosh - updated : 09/09/2020<br>Paul J. Converse - updated : 02/28/2017<br>Cassandra L. Kniffin - updated : 02/08/2017<br>Ada Hamosh - updated : 9/4/2012
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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 : 11/20/2009
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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="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 : 09/29/2022
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</span>
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</div>
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</div>
|
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<div class="row collapse" id="mimCollapseEditHistory">
|
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 09/09/2020<br>mgross : 02/28/2017<br>carol : 02/10/2017<br>ckniffin : 02/08/2017<br>alopez : 09/07/2012<br>terry : 9/4/2012<br>mgross : 11/20/2009<br>mgross : 11/20/2009<br>mgross : 11/20/2009<br>mgross : 11/20/2009
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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> 613128
|
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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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STN1, CST COMPLEX SUBUNIT; STN1
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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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STN1, S. POMBE, HOMOLOG OF; STN1 ALPHA ACCESSORY FACTOR, 44-KD SUBUNIT; AAF44<br />
|
|
OLIGONUCLEOTIDE/OLIGOSACCHARIDE-BINDING FOLD-CONTAINING PROTEIN 1; OBFC1
|
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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: STN1</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">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: 10q24.33
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 10:103,877,569-103,918,184 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</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">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
|
<th>
|
|
Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
10q24.33
|
|
</span>
|
|
</td>
|
|
|
|
|
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<td>
|
|
<span class="mim-font">
|
|
Cerebroretinal microangiopathy with calcifications and cysts 2
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
617341
|
|
</span>
|
|
</td>
|
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<td>
|
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<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
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|
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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>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
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</h4>
|
|
</div>
|
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|
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|
|
<span class="mim-text-font">
|
|
<p>The STN1 gene encodes a member of the human CTC1 (613129)-STN1- TEN1 (613130) (CST) complex, which plays a role in telomere C-strand synthesis as well as in genomewide replication and the recovery from replication stress (Miyake et al., 2009; summary by Simon et al., 2016). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
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|
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Casteel et al. (2009) cloned mouse Obfc1, which they called Aaf44. The deduced 378-amino acid protein contains an oligonucleotide/oligosaccharide-binding (OB) fold domain that is predicted to bind single-stranded DNA (ssDNA). Database analysis revealed Aaf44 orthologs in several species, including human. The human AAF44 protein shares 71% identity with mouse Aaf44, with highest conservation in the OB fold domain. Northern blot analysis detected low and variable Aaf44 expression in several mouse tissues. Endogenous Aaf44 protein had an apparent molecular mass of 44 kD by SDS-PAGE. Aaf44 and Aaf132 (Ctc1; 613129) colocalized in nuclei of transfected synchronized HeLa cells, with exclusion from nucleoli. The 2 proteins colocalized with PCNA (176740), presumably within DNA replication foci. </p><p>By searching databases for sequences similar to S. pombe Stn1, followed by RT-PCR of HeLa cell mRNA, Miyake et al. (2009) cloned OBFC1, which they called STN1. The deduced 368-amino acid protein contains an N-terminal OB fold. Immunohistochemical analysis and FISH revealed that STN1 colocalized with telomeric DNA. It did not appear to localize with replication foci. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
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|
|
<span class="mim-text-font">
|
|
<p>Hartz (2009) mapped the STN1 gene to chromosome 10q24.33 based on an alignment of the STN1 sequence (GenBank AK026212) with the genomic sequence (GRCh37).</p><p>Casteel et al. (2009) mapped the mouse Stn1 gene to chromosome 19. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Biochemical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Cryoelectron Microscopy</em></strong></p><p>
|
|
The CTC1 (613129)-STN1-TEN1 (613130) complex, also known as the CST complex, is essential for telomere maintenance and resolution of stalled replication forks genomewide. Lim et al. (2020) reported the 3.0-angstrom cryoelectron microscopy structure of human CST bound to telomeric single-stranded DNA, which assembles as a decameric supercomplex. The atomic model of the 134-kD CTC1 subunit, built almost entirely de novo, revealed the overall architecture of CST and the DNA-binding anchor site. The carboxyl-terminal domain of STN1 interacts with CTC1 at 2 separate docking sites, allowing allosteric mediation of CST decamer assembly. Furthermore, ssDNA appears to staple 2 monomers to nucleate decamer assembly. CTC1 has stronger structural similarity to replication protein A (RPA; see 179835) than the expected similarity to yeast Cdc13. The decameric structure suggested that CST can organize ssDNA analogously to the nucleosome's organization of double-stranded DNA. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<span class="mim-text-font">
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<p>Using immunoprecipitation analysis, Casteel et al. (2009) showed that epitope-tagged mouse Aaf44 and Aaf132 interacted in transfected HEK293 cells. Expression of Aaf44 appeared to stabilize the Aaf132 protein. When expressed individually, Aaf44 and Aaf132 weakly bound single-stranded oligo(dC), but when expressed together, they showed strong ssDNA binding. When coexpressed, Aaf44 and Aaf132 formed an AAF complex that stimulated DNA primase activity by calf or human polymerase-alpha-primase (see 176636) on a poly(dT) template. Small interfering RNA directed against AAF44 in human cell lines inhibited DNA synthesis, but did not affect cell viability. </p><p>Using Western blot analysis of coimmunoprecipitated proteins and yeast 2-hybrid assays, Miyake et al. (2009) showed that STN1 interacted with CTC1 and TEN1 in a complex, which the authors called the CST complex. STN1 interacted with both CTC1 and TEN1, but CTC1 and TEN1 did not show significant interaction. The CST complex immunoprecipitated telomeric DNA, but not Alu repeat DNA, from HeLa cells. Only a fraction of telomeres associated with the CST complex, and association of the CST complex with telomeres did not vary during the cell cycle. The CST complex, but not its individual components, bound ssDNA with high affinity and in a sequence-independent manner. The CST complex appeared to protect telomeres independently of POT1 (606478). Knockdown studies suggested that the CST complex and POT1 play redundant roles in telomere protection. </p><p>Chen et al. (2012) demonstrated that the human CST complex, implicated in telomere protection and DNA metabolism, inhibits telomerase (see 602322) activity through primer sequestration and physical interaction with the protection of telomeres 1 (POT1)-TPP1 (609377) telomerase processivity factor. CST competes with POT1-TPP1 for telomeric DNA, and CST-telomeric-DNA binding increases during late S/G2 phase only on telomerase action, coinciding with telomerase shut-off. Depletion of CST allows excessive telomerase activity, promoting telomere elongation. Chen et al. (2012) proposed that through binding of the telomerase-extended telomere, CST limits telomerase action at individual telomeres to approximately one binding and extension event per cell cycle. The authors suggested that their findings defined the sequence of events that occur to first enable and then terminate telomerase-mediated telomere elongation. </p><p>Gu and Chang (2013) found that CTC1 mutations associated with Coats plus syndrome (CRMCC1; 612199) promoted telomere dysfunction by decreasing the stability of STN1 and reducing the ability of STN1 to interact with DNA polymerase-alpha (POLA; see 312040). They proposed that failure of STN1 to interact with POLA would make inactivating STN1 mutations incompatible with survival. </p><p>Using purified recombinant proteins, Ganduri and Lue (2017) showed that the STN1 component of the CST complex alone stimulated the synthesis of RNA-DNA chimeras by human primase-polymerase-alpha (PP; see 620063), primarily by affecting the coupling between primase and polymerase. Mutation analysis revealed that the PP-stimulatory activity of STN1 resided predominantly in its N-terminal OB fold domain. The OB fold directly interacted with POLA2 and also bound to single-stranded DNA. These binding activities of STN1 were, however, separable, and the PP stimulatory activity of STN1 was related to its POLA2-binding activity rather than its DNA-binding activity. The main interaction between human POLA2 and STN1 occurred through their OB fold domains. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p>In 2 unrelated patients, both born of consanguineous Pakistani parents, with cerebroretinal microangiopathy with calcifications and cysts-2 (CRMCC2; 617341), Simon et al. (2016) identified different homozygous missense mutations in the STN1 gene (R135T, 613128.0001 and D157Y, 613128.0002). The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the families. Patient fibroblasts were abnormally large, contained cytoplasmic vacuoles and extended podia, and grew poorly due to replication defects. The cells showed premature cellular senescence and increased apoptotic nuclei compared to controls, as well as micronuclei and torn DNA nuclear bridges. Cells showed several replication defects, including a decreased ability to release cells from S-phase and attenuation in the recovery from replication fork stalling after stress. These defects could be rescued with wildtype STN1. Telomere lengths from peripheral blood leukocytes were normal in the first patient, but shortened in the second patient; telomere lengths from fibroblasts were normal in the second patient. However, fibroblasts from both patients showed telomeric defects, such as abnormal telomere C-strand synthesis, fused chromosome ends, and telomere dysfunction-induced foci. Simon et al. (2016) suggested that the long single-stranded G-rich telomere sequences could abrogate telomere protection and activate DNA damage response and repair. Neither mutation could rescue telangiectatic defects observed in zebrafish embryos with morpholino knockdown of the stn1 gene, suggesting that both mutations resulted in a loss of function. </p>
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<strong>Animal Model</strong>
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<p>Simon et al. (2016) found that morpholino knockdown of the stn1 gene in zebrafish embryos resulted in decreased red blood cells and an arrest in T-cell progenitors, as well as increased vascularity. The vascular defects could be rescued by wildtype stn1 and by thalidomide treatment. </p>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>2 Selected Examples):</strong>
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</h4>
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<p />
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<h4>
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<span class="mim-font">
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<strong>.0001 CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2</strong>
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</span>
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</h4>
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STN1, ARG135THR
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<br />
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SNP: rs1057519583,
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ClinVar: RCV000417067
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<p>In a 12-year-old girl, born of consanguineous Pakistani parents, with cerebroretinal microangiopathy with calcifications and cysts-2 (CRMCC2; 617341), Simon et al. (2016) identified a homozygous c.404G-C transversion (c.404G-C, NM_024928) in exon 5 of the STN1 gene, resulting in an arg135-to-thr (R135T) substitution at a highly conserved residue. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not found in the dbSNP (build 135), 1000 Genomes Project, or Exome Sequencing Project databases, or in 160 ethnically matched controls. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>.0002 CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2</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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STN1, ASP157TYR
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<br />
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SNP: rs765462548,
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gnomAD: rs765462548,
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ClinVar: RCV000417070, RCV005090691
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<span class="mim-text-font">
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<p>In a 19-year-old man, born of consanguineous Pakistani parents, with cerebroretinal microangiopathy with calcifications and cysts-2 (CRMCC2; 617341), Simon et al. (2016) identified a homozygous c.469G-T transversion (c.469G-T, NM_024928) in exon 6 of the STN1 gene, resulting in an asp157-to-tyr (D157Y) substitution at a highly conserved residue. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not found in the dbSNP (build 135), 1000 Genomes Project, or Exome Sequencing Project databases, or in 160 ethnically matched controls. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<ol>
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<p class="mim-text-font">
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Casteel, D. E., Zhuang, S., Zeng, Y., Perrino, F. W., Boss, G. R., Goulian, M., Pilz, R. B.
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<strong>A DNA polymerase-alpha-primase cofactor with homology to replication protein A-32 regulates DNA replication in mammalian cells.</strong>
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J. Biol. Chem. 284: 5807-5818, 2009.
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[PubMed: 19119139]
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[Full Text: https://doi.org/10.1074/jbc.M807593200]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Chen, L.-Y., Redon, S., Lingner, J.
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<strong>The human CST complex is a terminator of telomerase activity.</strong>
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Nature 488: 540-544, 2012.
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[PubMed: 22763445]
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[Full Text: https://doi.org/10.1038/nature11269]
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</li>
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<li>
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<p class="mim-text-font">
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Ganduri, S., Lue, N. F.
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<strong>STN1-POLA2 interaction provides a basis for primase-pol alpha stimulation by human STN1.</strong>
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Nucleic Acids Res. 45: 9455-9466, 2017.
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[PubMed: 28934486]
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[Full Text: https://doi.org/10.1093/nar/gkx621]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Gu, P., Chang, S.
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<strong>Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus.</strong>
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Aging Cell 12: 1100-1109, 2013.
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[PubMed: 23869908]
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[Full Text: https://doi.org/10.1111/acel.12139]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hartz, P. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 11/20/2009.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lim, C. J., Barbour, A. T., Zaug, A. J., Goodrich, K. J., McKay, A. E., Wuttke, D. S., Cech, T. R.
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<strong>The structure of human CST reveals a decameric assembly bound to telomeric DNA.</strong>
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Science 368: 1081-1085, 2020.
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[PubMed: 32499435]
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[Full Text: https://doi.org/10.1126/science.aaz9649]
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<li>
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<p class="mim-text-font">
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Miyake, Y., Nakamura, M., Nabetani, A., Shimamura, S., Tamura, M., Yonehara, S., Saito, M., Ishikawa, F.
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<strong>RPA-like mammalian Ctc1-Stn1-Ten1 complex binds to single-stranded DNA and protects telomeres independently of the Pot1 pathway.</strong>
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Molec. Cell 36: 193-206, 2009.
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[PubMed: 19854130]
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[Full Text: https://doi.org/10.1016/j.molcel.2009.08.009]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Simon, A. J., Lev, A., Zhang, Y., Weiss, B., Rylova, A., Eyal, E., Kol, N., Barel, O., Cesarkas, K., Soudack, M., Greenberg-Kushnir, N., Rhodes, M., and 21 others.
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<strong>Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.</strong>
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J. Exp. Med. 213: 1429-1440, 2016.
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[PubMed: 27432940]
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[Full Text: https://doi.org/10.1084/jem.20151618]
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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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Bao Lige - updated : 09/29/2022<br>Ada Hamosh - updated : 09/09/2020<br>Paul J. Converse - updated : 02/28/2017<br>Cassandra L. Kniffin - updated : 02/08/2017<br>Ada Hamosh - updated : 9/4/2012
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</span>
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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 : 11/20/2009
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carol : 09/29/2022<br>alopez : 09/09/2020<br>mgross : 02/28/2017<br>carol : 02/10/2017<br>ckniffin : 02/08/2017<br>alopez : 09/07/2012<br>terry : 9/4/2012<br>mgross : 11/20/2009<br>mgross : 11/20/2009<br>mgross : 11/20/2009<br>mgross : 11/20/2009
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