3403 lines
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Entry
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- *606145 - SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 10; SLC2A10
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- OMIM
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<p>
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<span class="h4">*606145</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<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/606145">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li 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=ENSG00000197496;t=ENST00000359271" 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=81031" 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=606145" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000197496;t=ENST00000359271" 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_030777,XM_011529060,XM_011529061,XM_011529062,XM_011529063,XM_011529064,XM_011529065,XM_017028087,XM_047440528,XM_047440529" 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_030777" 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=606145" 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=05851&isoform_id=05851_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/SLC2A10" 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/11065680,13445575,13540547,13603727,17366247,19387138,75516678,109731185,119596130,158255358,189054845,193786251,768018385,768018389,768018398,768018401,768018403,768018405,1034625906,2217336299,2217336303,2462581711,2462581713,2462581715,2462581717,2462581719,2462581721,2462581723,2462581725,2462581727" 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/O95528" 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=81031" 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=ENSG00000197496;t=ENST00000359271" 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=SLC2A10" 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=SLC2A10" 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+81031" 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/SLC2A10" 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:81031" 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/81031" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr20&hgg_gene=ENST00000359271.4&hgg_start=46708320&hgg_end=46736347&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13444" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:13444" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/slc2a10" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=606145[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=606145[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000197496" 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=SLC2A10" 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=SLC2A10" 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=SLC2A10" 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=SLC2A10&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/PA37769" 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:13444" 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:2156687" 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/SLC2A10#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:2156687" 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/81031/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=81031" 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-080204-6" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=SLC2A10&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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 458432002<br />
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<strong>ICD10CM:</strong> Q87.82<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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606145
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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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SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 10; SLC2A10
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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GLUCOSE TRANSPORTER 10; GLUT10
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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=SLC2A10" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SLC2A10</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/20/363?start=-3&limit=10&highlight=363">20q13.12</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr20:46708320-46736347&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">20:46,708,320-46,736,347</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">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/20/363?start=-3&limit=10&highlight=363">
|
|
20q13.12
|
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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">
|
|
Arterial tortuosity syndrome
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/208050"> 208050 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal 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">
|
|
<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/606145" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/606145" 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">
|
|
<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.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
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<p>SLC2A10 is a member of the facilitative glucose transporter family, which plays a significant role in maintaining glucose homeostasis (<a href="#8" class="mim-tip-reference" title="McVie-Wylie, A. J., Lamson, D. R., Chen, Y. T. <strong>Molecular cloning of a novel member of the GLUT family of transporters, SLC2A10 (GLUT10), localized on chromosome 20q13.1: a candidate gene for NIDDM susceptibility.</strong> Genomics 72: 113-117, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11247674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11247674</a>] [<a href="https://doi.org/10.1006/geno.2000.6457" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11247674">McVie-Wylie et al., 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11247674" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By EST database searching, sequence analysis, 3-prime and 5-prime RACE, and screening of a human liver cDNA library, <a href="#8" class="mim-tip-reference" title="McVie-Wylie, A. J., Lamson, D. R., Chen, Y. T. <strong>Molecular cloning of a novel member of the GLUT family of transporters, SLC2A10 (GLUT10), localized on chromosome 20q13.1: a candidate gene for NIDDM susceptibility.</strong> Genomics 72: 113-117, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11247674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11247674</a>] [<a href="https://doi.org/10.1006/geno.2000.6457" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11247674">McVie-Wylie et al. (2001)</a> cloned a full-length SLC2A10 cDNA encoding a 541-amino acid protein. SLC2A10 shares between approximately 28% (SLC2A3; <a href="/entry/138170">138170</a>) and 34% (SLC2A8; <a href="/entry/605245">605245</a>) amino acid sequence identity with other members of the facilitative glucose transporter family. SLC2A10 has 12 transmembrane domains, with a hydrophilic intracellular loop between helices 6 and 7, together with a large extracellular loop (containing a potential N-linked glycosylation site) between helices 9 and 10. Northern blot analysis of adult tissues detected a major 4.3-kb transcript with highest levels of expression in liver and pancreas and lower levels of expression in all other tissues examined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11247674" 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 RT-PCR, <a href="#10" class="mim-tip-reference" title="Wood, I. S., Hunter, L., Trayhurn, P. <strong>Expression of class III facilitative glucose transporter genes (GLUT-10 and GLUT-12) in mouse and human adipose tissues.</strong> Biochem. Biophys. Res. Commun. 308: 43-49, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12890477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12890477</a>] [<a href="https://doi.org/10.1016/s0006-291x(03)01322-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12890477">Wood et al. (2003)</a> detected widespread expression of mouse Glut10, including expression in white adipose tissue and stromal vasculature. GLUT10 was also expressed in human adipose tissue and in an adipocyte cell line. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12890477" 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 in situ hybridization, <a href="#7" class="mim-tip-reference" title="Lee, Y.-C., Huang, H.-Y., Chang, C.-J., Cheng, C.-H., Chen, Y.-T. <strong>Mitochondrial GLUT10 facilitates dehydroascorbic acid import and protects cells against oxidative stress: mechanistic insight into arterial tortuosity syndrome.</strong> Hum. Molec. Genet. 19: 3721-3733, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20639396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20639396</a>] [<a href="https://doi.org/10.1093/hmg/ddq286" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20639396">Lee et al. (2010)</a> found that Glut10 mRNA was highly expressed in smooth muscle layers of mouse aortic tissues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20639396" 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="McVie-Wylie, A. J., Lamson, D. R., Chen, Y. T. <strong>Molecular cloning of a novel member of the GLUT family of transporters, SLC2A10 (GLUT10), localized on chromosome 20q13.1: a candidate gene for NIDDM susceptibility.</strong> Genomics 72: 113-117, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11247674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11247674</a>] [<a href="https://doi.org/10.1006/geno.2000.6457" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11247674">McVie-Wylie et al. (2001)</a> determined that the SLC2A10 gene contains 5 exons and spans at least 28 kb of genomic DNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11247674" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By sequence analysis, <a href="#8" class="mim-tip-reference" title="McVie-Wylie, A. J., Lamson, D. R., Chen, Y. T. <strong>Molecular cloning of a novel member of the GLUT family of transporters, SLC2A10 (GLUT10), localized on chromosome 20q13.1: a candidate gene for NIDDM susceptibility.</strong> Genomics 72: 113-117, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11247674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11247674</a>] [<a href="https://doi.org/10.1006/geno.2000.6457" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11247674">McVie-Wylie et al. (2001)</a> mapped the SLC2A10 gene to chromosome 20q12-q13.1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11247674" 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="Dawson, P. A., Mychaleckyj, J. C., Fossey, S. C., Mihic, S. J., Craddock, A. L., Bowden, D. W. <strong>Sequence and functional analysis of GLUT10: a glucose transporter in the type 2 diabetes-linked region of chromosome 20q12-13.1.</strong> Molec. Genet. Metab. 74: 186-199, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11592815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11592815</a>] [<a href="https://doi.org/10.1006/mgme.2001.3212" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11592815">Dawson et al. (2001)</a> found that expression of human GLUT10 increased uptake of 2-deoxy-D-glucose in Xenopus oocytes. D-glucose and D-galactose competed with 2-deoxy-D-glucose, and transport was inhibited by the glucose transport inhibitor phloretin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11592815" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Lee, Y.-C., Huang, H.-Y., Chang, C.-J., Cheng, C.-H., Chen, Y.-T. <strong>Mitochondrial GLUT10 facilitates dehydroascorbic acid import and protects cells against oxidative stress: mechanistic insight into arterial tortuosity syndrome.</strong> Hum. Molec. Genet. 19: 3721-3733, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20639396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20639396</a>] [<a href="https://doi.org/10.1093/hmg/ddq286" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20639396">Lee et al. (2010)</a> found that Glut10 localized to the Golgi apparatus under basal conditions in differentiated mouse 3T3-L1 adipocytes and relocalized to mitochondria upon insulin stimulation. In A10 rat aortic smooth muscle cells, Glut10 localized mainly to mitochondria under both basal and insulin-stimulated conditions. Overexpression of Glut10 increased mitochondrial uptake of radiolabeled L-dehydroascorbic acid (DHA), the oxidized form of vitamin C, and increased mitochondrial ascorbic acid content. DHA uptake was inhibited by D-glucose. Overexpression of Glut10 in A10 cells reduced mitochondrial production of reactive oxygen species following H2O2-dependent oxidative stress, possibly by enhancing mitochondrial reduction of DHA to ascorbic acid. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20639396" 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>Arterial tortuosity syndrome (ATORS; <a href="/entry/208050">208050</a>) is an autosomal recessive disorder characterized by tortuosity, elongation, stenosis and aneurysm formation in the major arteries owing to disruption of elastic fibers in the medial layer of the arterial wall. <a href="#4" class="mim-tip-reference" title="Coucke, P. J., Willaert, A., Wessels, M. W., Callewaert, B., Zoppi, N., De Backer, J., Fox, J. E., Mancini, G. M. S., Kambouris, M., Gardella, R., Facchetti, F., Willems, P. J., Forsyth, R., Dietz, H. C., Barlati, S., Colombi, M., Loeys, B., De Paepe, A. <strong>Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.</strong> Nature Genet. 38: 452-457, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16550171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16550171</a>] [<a href="https://doi.org/10.1038/ng1764" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16550171">Coucke et al. (2006)</a> narrowed the candidate region on 20q13.1 and found homozygous mutations in the SLC2A10 gene, encoding the facilitative glucose transporter GLUT10, in 6 affected families. The parents in all 6 families were heterozygous for the mutation. GLUT10 deficiency is associated with upregulation of the TGF-beta (see <a href="/entry/190180">190180</a>) pathway in the arterial wall, a finding also observed in Loeys-Dietz syndrome (<a href="/entry/609192">609192</a>), in which aortic aneurysms associate with arterial tortuosity. The identification of a glucose transporter gene responsible for altered arterial morphogenesis is notable in light of the previously suggested link between GLUT10 and type 2 diabetes (<a href="/entry/125853">125853</a>) (<a href="#5" class="mim-tip-reference" title="Dawson, P. A., Mychaleckyj, J. C., Fossey, S. C., Mihic, S. J., Craddock, A. L., Bowden, D. W. <strong>Sequence and functional analysis of GLUT10: a glucose transporter in the type 2 diabetes-linked region of chromosome 20q12-13.1.</strong> Molec. Genet. Metab. 74: 186-199, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11592815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11592815</a>] [<a href="https://doi.org/10.1006/mgme.2001.3212" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11592815">Dawson et al., 2001</a>; <a href="#8" class="mim-tip-reference" title="McVie-Wylie, A. J., Lamson, D. R., Chen, Y. T. <strong>Molecular cloning of a novel member of the GLUT family of transporters, SLC2A10 (GLUT10), localized on chromosome 20q13.1: a candidate gene for NIDDM susceptibility.</strong> Genomics 72: 113-117, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11247674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11247674</a>] [<a href="https://doi.org/10.1006/geno.2000.6457" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11247674">McVie-Wylie et al., 2001</a>). The findings of <a href="#4" class="mim-tip-reference" title="Coucke, P. J., Willaert, A., Wessels, M. W., Callewaert, B., Zoppi, N., De Backer, J., Fox, J. E., Mancini, G. M. S., Kambouris, M., Gardella, R., Facchetti, F., Willems, P. J., Forsyth, R., Dietz, H. C., Barlati, S., Colombi, M., Loeys, B., De Paepe, A. <strong>Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.</strong> Nature Genet. 38: 452-457, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16550171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16550171</a>] [<a href="https://doi.org/10.1038/ng1764" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16550171">Coucke et al. (2006)</a> may provide new insight on the mechanisms causing microangiopathic changes associated with diabetes and suggested that therapeutic compounds intervening with TGF-beta signaling represent a new treatment strategy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11592815+11247674+16550171" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 16 patients from 12 families with ATORS, <a href="#2" class="mim-tip-reference" title="Callewaert, B. L., Willaert, A., Kerstjens-Frederikse, W. S., De Backer, J., Devriendt, K., Albrecht, B., Ramos-Arroyo, M. A., Doco-Fenzy, M., Hennekam, R. C. M., Pyeritz, R. E., Krogmann, O. N., Gillessen-Kaesbach, G., and 10 others. <strong>Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.</strong> Hum. Mutat. 29: 150-158, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17935213/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17935213</a>] [<a href="https://doi.org/10.1002/humu.20623" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17935213">Callewaert et al. (2008)</a> identified 11 different mutations in the SLC2A10 gene (see, e.g., <a href="#0005">606145.0005</a>-<a href="#0006">606145.0006</a>). Several mutations represented founder effects. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17935213" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Pathogenic Effects of SLC2A10 Mutations</em></strong></p><p>
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By immunohistochemical analysis, <a href="#11" class="mim-tip-reference" title="Zoppi, N., Chiarelli, N., Cinquina, V., Ritelli, M., Colombi, M. <strong>GLUT10 deficiency leads to oxidative stress and non-canonical alpha-V/beta-3 integrin-mediated TGF-beta signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts.</strong> Hum. Molec. Genet. 24: 6769-6787, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26376865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26376865</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26376865[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/hmg/ddv382" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26376865">Zoppi et al. (2015)</a> observed disarray of several structural components of the extracellular matrix in skin fibroblasts from 3 ATORS patients with different GLUT10 mutations. Expression profiling and quantitative RT-PCR of control and patient fibroblasts revealed differential expression of genes involved in TGF-beta signaling and of genes that influence lipid metabolism, intracellular redox homeostasis, and maintenance of extracellular matrix. Immunofluorescence microscopy, Western blot analysis, and flow cytometry confirmed increased synthesis of ALDH1A1 (<a href="/entry/100640">100640</a>) and PPAR-gamma (PPARG; <a href="/entry/601487">601487</a>) and increased production of reactive oxidative species in ATORS patient fibroblasts. Patient fibroblasts also showed activation of a noncanonical alpha-V (ITGAV; <a href="/entry/193210">193210</a>)/beta-3 (ITGB3; <a href="/entry/173470">173470</a>) integrin-mediated TGF-beta signaling pathway. Stable expression of GLUT10 partially normalized ATORS fibroblasts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26376865" 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="#7" class="mim-tip-reference" title="Lee, Y.-C., Huang, H.-Y., Chang, C.-J., Cheng, C.-H., Chen, Y.-T. <strong>Mitochondrial GLUT10 facilitates dehydroascorbic acid import and protects cells against oxidative stress: mechanistic insight into arterial tortuosity syndrome.</strong> Hum. Molec. Genet. 19: 3721-3733, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20639396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20639396</a>] [<a href="https://doi.org/10.1093/hmg/ddq286" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20639396">Lee et al. (2010)</a> generated a mouse model of ATORS by introducing a gly128-to-glu (G128E) mutation in Glut10. Mice homozygous for the G128E mutation showed a mild phenotype of abnormal elastogenesis with elastic fiber proliferation by 10 months of age. Aortic smooth muscle cells cultured from Glut10(G128E/G128E) mice had normal morphology, but they showed reduced mitochondrial DHA uptake and elevated cellular reactive oxygen species following oxidative stress compared with wildtype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20639396" 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="#9" class="mim-tip-reference" title="Willaert, A., Khatri, S., Callewaert, B. L., Coucke, P. J., Crosby, S. D., Lee, J. G. H., Davis, E. C., Shiva, S., Tsang, M., De Paepe, A., Urban, Z. <strong>GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGF-beta signaling.</strong> Hum. Molec. Genet. 21: 1248-1259, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22116938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22116938</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22116938[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/hmg/ddr555" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22116938">Willaert et al. (2012)</a> found that knockdown of Slc2a10 in zebrafish via antisense morpholino oligonucleotides resulted in a wavy notochord and cardiovascular abnormalities, with reduced heart rate and blood flow and incomplete and irregular vascular patterning, especially in the tail. Treatment with a small molecular inhibitor of Tgf-beta receptor-1 (TGFBR1; <a href="/entry/190181">190181</a>) caused a similar phenotype, but it had no effect on Slc2a10 expression. Array hybridization revealed an approximately 50% overlap in genes that showed altered expression following Slc2a10 knockdown or Tgfbr1 inhibition. Both treatments downregulated genes involved in eye, cardiovascular, and nervous system development and cartilage formation. Slc2a10 knockdown uniquely affected genes involved in energy metabolism, calcium binding and homeostasis, and contractile muscle cytoskeleton and connective tissue, as well as additional genes involved in DNA replication and repair and cell cycle progression. Mitochondria of Slc2a10-knockdown embryos appeared normal, but they showed reduced oxygen consumption and blunted mitochondrial response to a chemical uncoupler. Knockdown of Slc2a10 partially rescued the deleterious effects of reduced levels of Smad7 (<a href="/entry/602932">602932</a>), an endogenous inhibitor of Tgfbr1. <a href="#9" class="mim-tip-reference" title="Willaert, A., Khatri, S., Callewaert, B. L., Coucke, P. J., Crosby, S. D., Lee, J. G. H., Davis, E. C., Shiva, S., Tsang, M., De Paepe, A., Urban, Z. <strong>GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGF-beta signaling.</strong> Hum. Molec. Genet. 21: 1248-1259, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22116938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22116938</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22116938[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/hmg/ddr555" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22116938">Willaert et al. (2012)</a> concluded that Slc2a10 is an effector of TGF-beta signaling that exerts its effect downstream of SMADs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22116938" 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 families originating from the same region in Morocco, <a href="#4" class="mim-tip-reference" title="Coucke, P. J., Willaert, A., Wessels, M. W., Callewaert, B., Zoppi, N., De Backer, J., Fox, J. E., Mancini, G. M. S., Kambouris, M., Gardella, R., Facchetti, F., Willems, P. J., Forsyth, R., Dietz, H. C., Barlati, S., Colombi, M., Loeys, B., De Paepe, A. <strong>Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.</strong> Nature Genet. 38: 452-457, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16550171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16550171</a>] [<a href="https://doi.org/10.1038/ng1764" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16550171">Coucke et al. (2006)</a> found that arterial tortuosity syndrome (ATORS; <a href="/entry/208050">208050</a>) was caused by a homozygous nonsense mutation in the SLC2A10 gene: 510G-A (W170X). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16550171" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a family originating from Morocco, <a href="#4" class="mim-tip-reference" title="Coucke, P. J., Willaert, A., Wessels, M. W., Callewaert, B., Zoppi, N., De Backer, J., Fox, J. E., Mancini, G. M. S., Kambouris, M., Gardella, R., Facchetti, F., Willems, P. J., Forsyth, R., Dietz, H. C., Barlati, S., Colombi, M., Loeys, B., De Paepe, A. <strong>Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.</strong> Nature Genet. 38: 452-457, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16550171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16550171</a>] [<a href="https://doi.org/10.1038/ng1764" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16550171">Coucke et al. (2006)</a> found that arterial tortuosity syndrome (ATORS; <a href="/entry/208050">208050</a>) was caused by a homozygous 961delG mutation in the SLC2A10 gene, resulting in a frameshift (Val321fsTer391). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16550171" 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">rs587776600 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776600;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587776600" 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=rs587776600" 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 consanguineous Italian kindred with arterial tortuosity syndrome (ATORS; <a href="/entry/208050">208050</a>), the Sicilian family studied by <a href="#3" class="mim-tip-reference" title="Coucke, P. J., Wessels, M. W., Van Acker, P., Gardella, R., Barlati, S., Willems, P. J., Colombi, M., De Paepe, A. <strong>Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13.</strong> J. Med. Genet. 40: 747-751, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14569121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14569121</a>] [<a href="https://doi.org/10.1136/jmg.40.10.747" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14569121">Coucke et al. (2003)</a> with 4 affected children in 2 sibships, <a href="#4" class="mim-tip-reference" title="Coucke, P. J., Willaert, A., Wessels, M. W., Callewaert, B., Zoppi, N., De Backer, J., Fox, J. E., Mancini, G. M. S., Kambouris, M., Gardella, R., Facchetti, F., Willems, P. J., Forsyth, R., Dietz, H. C., Barlati, S., Colombi, M., Loeys, B., De Paepe, A. <strong>Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.</strong> Nature Genet. 38: 452-457, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16550171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16550171</a>] [<a href="https://doi.org/10.1038/ng1764" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16550171">Coucke et al. (2006)</a> identified a homozygous frameshift mutation in the SLC2A10 gene, 1334delG (Gly445fsTer484), in affected individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14569121+16550171" 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="Callewaert, B. L., Willaert, A., Kerstjens-Frederikse, W. S., De Backer, J., Devriendt, K., Albrecht, B., Ramos-Arroyo, M. A., Doco-Fenzy, M., Hennekam, R. C. M., Pyeritz, R. E., Krogmann, O. N., Gillessen-Kaesbach, G., and 10 others. <strong>Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.</strong> Hum. Mutat. 29: 150-158, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17935213/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17935213</a>] [<a href="https://doi.org/10.1002/humu.20623" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17935213">Callewaert et al. (2008)</a> identified the 1334delG mutation in affected members of 4 European families with arterial tortuosity syndrome. Haplotype analysis suggested a founder effect. The authors noted that the mutation occurs in a highly conserved region in exon 3 and disrupts the endofacial loop between TMD10 and TMD11. In all patients, the mutation was in compound heterozygosity with another pathogenic SLC2A10 mutation (see, e.g., <a href="#0005">606145.0005</a> and <a href="#0006">606145.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17935213" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 ARTERIAL TORTUOSITY SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs80358230 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80358230;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs80358230" 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=rs80358230" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004850 OR RCV000498947 OR RCV003914808" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004850, RCV000498947, RCV003914808" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004850...</a>
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<p>In 2 Middle Eastern families with arterial tortuosity syndrome (ATORS; <a href="/entry/208050">208050</a>), 1 with 6 affected sibs and another with 2 affected sibs, <a href="#4" class="mim-tip-reference" title="Coucke, P. J., Willaert, A., Wessels, M. W., Callewaert, B., Zoppi, N., De Backer, J., Fox, J. E., Mancini, G. M. S., Kambouris, M., Gardella, R., Facchetti, F., Willems, P. J., Forsyth, R., Dietz, H. C., Barlati, S., Colombi, M., Loeys, B., De Paepe, A. <strong>Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.</strong> Nature Genet. 38: 452-457, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16550171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16550171</a>] [<a href="https://doi.org/10.1038/ng1764" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16550171">Coucke et al. (2006)</a> identified a homozygous mutation, 243C-G, in the SLC2A10 gene. The mutation resulted in a ser81-to-arg (S81R) amino acid substitution. Affected individuals shared a common haplotype, indicating a founder mutation in these families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16550171" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Faiyaz-Ul-Haque, M., Zaidi, S. H. E., Wahab, A. A., Eltohami, A., Al-Mureikhi, M. S., Al-Thani, G., Peltekova, V. D., Tsui, L.-C., Teebi, A. S. <strong>Identification of a pSer81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families. (Letter)</strong> Clin. Genet. 74: 189-193, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18565096/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18565096</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2008.01049.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18565096">Faiyaz-Ul-Haque et al. (2008)</a> identified a homozygous S81R mutation in affected members of 10 Qatari families with arterial tortuosity syndrome. The substitution occurs in the third transmembrane domain of the SLC2A10 protein. Eight of the families belonged to a large consanguineous kindred that was part of an extended Bedouin tribe originally reported as having a unique form of Ehlers-Danlos syndrome (<a href="#1" class="mim-tip-reference" title="Abdul Wahab, A., Janahi, I. A., Eltohami, A., Zeid, A., Ul Haque, M. F., Teebi, A. S. <strong>A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar.</strong> Acta Paediat. 92: 456-462, 2003. Note: Erratum: Acta Paediat. 99: 1112 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12801113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12801113</a>] [<a href="https://doi.org/10.1111/j.1651-2227.2003.tb00578.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12801113">Abdul Wahab et al., 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18565096+12801113" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 ARTERIAL TORTUOSITY SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908172 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908172;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/rs121908172?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=rs121908172" 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=rs121908172" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004851 OR RCV000199687 OR RCV002371760" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004851, RCV000199687, RCV002371760" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004851...</a>
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<p>In affected members of 3 families with arterial tortuosity syndrome (ATORS; <a href="/entry/208050">208050</a>), <a href="#2" class="mim-tip-reference" title="Callewaert, B. L., Willaert, A., Kerstjens-Frederikse, W. S., De Backer, J., Devriendt, K., Albrecht, B., Ramos-Arroyo, M. A., Doco-Fenzy, M., Hennekam, R. C. M., Pyeritz, R. E., Krogmann, O. N., Gillessen-Kaesbach, G., and 10 others. <strong>Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.</strong> Hum. Mutat. 29: 150-158, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17935213/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17935213</a>] [<a href="https://doi.org/10.1002/humu.20623" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17935213">Callewaert et al. (2008)</a> identified a 1276G-T transversion in exon 2 of the SLC2A10 gene, resulting in a gly426-to-trp (G426W) substitution in TMD10. In all patients, the mutation was in compound heterozygosity with another pathogenic SLC2A10 mutation (see <a href="#0003">606145.0003</a> and <a href="#0006">606145.0006</a>). Haplotype analysis suggested a founder effect for the G426W mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17935213" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 ARTERIAL TORTUOSITY SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908173 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908173;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/rs121908173?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=rs121908173" 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=rs121908173" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004852 OR RCV000616750 OR RCV001558568" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004852, RCV000616750, RCV001558568" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004852...</a>
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<p>In affected members of 3 families with arterial tortuosity syndrome (ATORS; <a href="/entry/208050">208050</a>), <a href="#2" class="mim-tip-reference" title="Callewaert, B. L., Willaert, A., Kerstjens-Frederikse, W. S., De Backer, J., Devriendt, K., Albrecht, B., Ramos-Arroyo, M. A., Doco-Fenzy, M., Hennekam, R. C. M., Pyeritz, R. E., Krogmann, O. N., Gillessen-Kaesbach, G., and 10 others. <strong>Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.</strong> Hum. Mutat. 29: 150-158, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17935213/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17935213</a>] [<a href="https://doi.org/10.1002/humu.20623" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17935213">Callewaert et al. (2008)</a> identified a 394C-T transition in exon 2 of the SLC2A10 gene, resulting in an arg132-to-trp (R132W) substitution in the endofacial loop between TMD4 and TMD5. In all patients, the mutation was in compound heterozygosity with another pathogenic SLC2A10 mutation (see <a href="#0003">606145.0003</a> and <a href="#0005">606145.0005</a>). Haplotype analysis suggested a founder effect for the R132W mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17935213" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar.</strong>
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Acta Paediat. 92: 456-462, 2003. Note: Erratum: Acta Paediat. 99: 1112 only, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12801113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12801113</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12801113" 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/j.1651-2227.2003.tb00578.x" target="_blank">Full Text</a>]
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<strong>Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.</strong>
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Hum. Mutat. 29: 150-158, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17935213/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17935213</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17935213" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.20623" target="_blank">Full Text</a>]
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</p>
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<a id="3" class="mim-anchor"></a>
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<a id="Coucke2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Coucke, P. J., Wessels, M. W., Van Acker, P., Gardella, R., Barlati, S., Willems, P. J., Colombi, M., De Paepe, A.
|
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<strong>Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13.</strong>
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J. Med. Genet. 40: 747-751, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14569121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14569121</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14569121" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.40.10.747" target="_blank">Full Text</a>]
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</p>
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<a id="4" class="mim-anchor"></a>
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<a id="Coucke2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Coucke, P. J., Willaert, A., Wessels, M. W., Callewaert, B., Zoppi, N., De Backer, J., Fox, J. E., Mancini, G. M. S., Kambouris, M., Gardella, R., Facchetti, F., Willems, P. J., Forsyth, R., Dietz, H. C., Barlati, S., Colombi, M., Loeys, B., De Paepe, A.
|
|
<strong>Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.</strong>
|
|
Nature Genet. 38: 452-457, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16550171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16550171</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16550171" 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/ng1764" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Dawson2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Dawson, P. A., Mychaleckyj, J. C., Fossey, S. C., Mihic, S. J., Craddock, A. L., Bowden, D. W.
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<strong>Sequence and functional analysis of GLUT10: a glucose transporter in the type 2 diabetes-linked region of chromosome 20q12-13.1.</strong>
|
|
Molec. Genet. Metab. 74: 186-199, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11592815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11592815</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11592815" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/mgme.2001.3212" target="_blank">Full Text</a>]
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</p>
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<a id="6" class="mim-anchor"></a>
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<a id="Faiyaz-Ul-Haque2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Faiyaz-Ul-Haque, M., Zaidi, S. H. E., Wahab, A. A., Eltohami, A., Al-Mureikhi, M. S., Al-Thani, G., Peltekova, V. D., Tsui, L.-C., Teebi, A. S.
|
|
<strong>Identification of a pSer81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families. (Letter)</strong>
|
|
Clin. Genet. 74: 189-193, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18565096/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18565096</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18565096" 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/j.1399-0004.2008.01049.x" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Lee2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lee, Y.-C., Huang, H.-Y., Chang, C.-J., Cheng, C.-H., Chen, Y.-T.
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<strong>Mitochondrial GLUT10 facilitates dehydroascorbic acid import and protects cells against oxidative stress: mechanistic insight into arterial tortuosity syndrome.</strong>
|
|
Hum. Molec. Genet. 19: 3721-3733, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20639396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20639396</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20639396" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddq286" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="McVie-Wylie2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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McVie-Wylie, A. J., Lamson, D. R., Chen, Y. T.
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<strong>Molecular cloning of a novel member of the GLUT family of transporters, SLC2A10 (GLUT10), localized on chromosome 20q13.1: a candidate gene for NIDDM susceptibility.</strong>
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Genomics 72: 113-117, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11247674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11247674</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11247674" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.2000.6457" target="_blank">Full Text</a>]
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Willaert2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Willaert, A., Khatri, S., Callewaert, B. L., Coucke, P. J., Crosby, S. D., Lee, J. G. H., Davis, E. C., Shiva, S., Tsang, M., De Paepe, A., Urban, Z.
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<strong>GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGF-beta signaling.</strong>
|
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Hum. Molec. Genet. 21: 1248-1259, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22116938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22116938</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22116938[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=22116938" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddr555" target="_blank">Full Text</a>]
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Wood2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wood, I. S., Hunter, L., Trayhurn, P.
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<strong>Expression of class III facilitative glucose transporter genes (GLUT-10 and GLUT-12) in mouse and human adipose tissues.</strong>
|
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Biochem. Biophys. Res. Commun. 308: 43-49, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12890477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12890477</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12890477" 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/s0006-291x(03)01322-6" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Zoppi2015" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zoppi, N., Chiarelli, N., Cinquina, V., Ritelli, M., Colombi, M.
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<strong>GLUT10 deficiency leads to oxidative stress and non-canonical alpha-V/beta-3 integrin-mediated TGF-beta signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts.</strong>
|
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Hum. Molec. Genet. 24: 6769-6787, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26376865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26376865</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26376865[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=26376865" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddv382" target="_blank">Full Text</a>]
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</p>
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</ol>
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<div>
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<br />
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</div>
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</div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<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 - updated : 5/17/2016
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</span>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 8/3/2012<br>Cassandra L. Kniffin - updated : 8/19/2008<br>Cassandra L. Kniffin - updated : 3/3/2008<br>Patricia A. Hartz - updated : 8/29/2006<br>Victor A. McKusick - updated : 4/27/2006
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</span>
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</div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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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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Carol A. Bocchini : 7/23/2001
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</span>
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<a id="editHistory" class="mim-anchor"></a>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 05/28/2024
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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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carol : 01/31/2019<br>mgross : 05/17/2016<br>mgross : 5/17/2016<br>carol : 1/29/2014<br>terry : 11/29/2012<br>terry : 11/29/2012<br>mgross : 8/8/2012<br>terry : 8/3/2012<br>terry : 1/20/2010<br>wwang : 8/26/2008<br>ckniffin : 8/19/2008<br>wwang : 3/20/2008<br>ckniffin : 3/3/2008<br>terry : 11/3/2006<br>wwang : 9/5/2006<br>terry : 8/29/2006<br>alopez : 5/1/2006<br>terry : 4/27/2006<br>cwells : 11/12/2003<br>carol : 7/25/2001<br>mcapotos : 7/24/2001<br>carol : 7/24/2001
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</span>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 606145
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<div>
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<h3>
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<span class="mim-font">
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SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 10; SLC2A10
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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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<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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GLUCOSE TRANSPORTER 10; GLUT10
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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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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: SLC2A10</em></strong>
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</span>
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</p>
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</div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 458432002;
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<strong>ICD10CM:</strong> Q87.82;
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</span>
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<br />
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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: 20q13.12
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Genomic coordinates <span class="small">(GRCh38)</span> : 20:46,708,320-46,736,347 </span>
|
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</em>
|
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</strong>
|
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<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
|
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</th>
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<th>
|
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Inheritance
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</th>
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<th>
|
|
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>
|
|
<td rowspan="1">
|
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<span class="mim-font">
|
|
20q13.12
|
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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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Arterial tortuosity syndrome
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
208050
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
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<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">
|
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>SLC2A10 is a member of the facilitative glucose transporter family, which plays a significant role in maintaining glucose homeostasis (McVie-Wylie et al., 2001). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By EST database searching, sequence analysis, 3-prime and 5-prime RACE, and screening of a human liver cDNA library, McVie-Wylie et al. (2001) cloned a full-length SLC2A10 cDNA encoding a 541-amino acid protein. SLC2A10 shares between approximately 28% (SLC2A3; 138170) and 34% (SLC2A8; 605245) amino acid sequence identity with other members of the facilitative glucose transporter family. SLC2A10 has 12 transmembrane domains, with a hydrophilic intracellular loop between helices 6 and 7, together with a large extracellular loop (containing a potential N-linked glycosylation site) between helices 9 and 10. Northern blot analysis of adult tissues detected a major 4.3-kb transcript with highest levels of expression in liver and pancreas and lower levels of expression in all other tissues examined. </p><p>By RT-PCR, Wood et al. (2003) detected widespread expression of mouse Glut10, including expression in white adipose tissue and stromal vasculature. GLUT10 was also expressed in human adipose tissue and in an adipocyte cell line. </p><p>Using in situ hybridization, Lee et al. (2010) found that Glut10 mRNA was highly expressed in smooth muscle layers of mouse aortic tissues. </p>
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</span>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
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<p>McVie-Wylie et al. (2001) determined that the SLC2A10 gene contains 5 exons and spans at least 28 kb of genomic DNA. </p>
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</span>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Mapping</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>By sequence analysis, McVie-Wylie et al. (2001) mapped the SLC2A10 gene to chromosome 20q12-q13.1. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Gene Function</strong>
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Dawson et al. (2001) found that expression of human GLUT10 increased uptake of 2-deoxy-D-glucose in Xenopus oocytes. D-glucose and D-galactose competed with 2-deoxy-D-glucose, and transport was inhibited by the glucose transport inhibitor phloretin. </p><p>Lee et al. (2010) found that Glut10 localized to the Golgi apparatus under basal conditions in differentiated mouse 3T3-L1 adipocytes and relocalized to mitochondria upon insulin stimulation. In A10 rat aortic smooth muscle cells, Glut10 localized mainly to mitochondria under both basal and insulin-stimulated conditions. Overexpression of Glut10 increased mitochondrial uptake of radiolabeled L-dehydroascorbic acid (DHA), the oxidized form of vitamin C, and increased mitochondrial ascorbic acid content. DHA uptake was inhibited by D-glucose. Overexpression of Glut10 in A10 cells reduced mitochondrial production of reactive oxygen species following H2O2-dependent oxidative stress, possibly by enhancing mitochondrial reduction of DHA to ascorbic acid. </p>
|
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</span>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
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</h4>
|
|
</div>
|
|
|
|
|
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<span class="mim-text-font">
|
|
<p>Arterial tortuosity syndrome (ATORS; 208050) is an autosomal recessive disorder characterized by tortuosity, elongation, stenosis and aneurysm formation in the major arteries owing to disruption of elastic fibers in the medial layer of the arterial wall. Coucke et al. (2006) narrowed the candidate region on 20q13.1 and found homozygous mutations in the SLC2A10 gene, encoding the facilitative glucose transporter GLUT10, in 6 affected families. The parents in all 6 families were heterozygous for the mutation. GLUT10 deficiency is associated with upregulation of the TGF-beta (see 190180) pathway in the arterial wall, a finding also observed in Loeys-Dietz syndrome (609192), in which aortic aneurysms associate with arterial tortuosity. The identification of a glucose transporter gene responsible for altered arterial morphogenesis is notable in light of the previously suggested link between GLUT10 and type 2 diabetes (125853) (Dawson et al., 2001; McVie-Wylie et al., 2001). The findings of Coucke et al. (2006) may provide new insight on the mechanisms causing microangiopathic changes associated with diabetes and suggested that therapeutic compounds intervening with TGF-beta signaling represent a new treatment strategy. </p><p>In 16 patients from 12 families with ATORS, Callewaert et al. (2008) identified 11 different mutations in the SLC2A10 gene (see, e.g., 606145.0005-606145.0006). Several mutations represented founder effects. </p><p><strong><em>Pathogenic Effects of SLC2A10 Mutations</em></strong></p><p>
|
|
By immunohistochemical analysis, Zoppi et al. (2015) observed disarray of several structural components of the extracellular matrix in skin fibroblasts from 3 ATORS patients with different GLUT10 mutations. Expression profiling and quantitative RT-PCR of control and patient fibroblasts revealed differential expression of genes involved in TGF-beta signaling and of genes that influence lipid metabolism, intracellular redox homeostasis, and maintenance of extracellular matrix. Immunofluorescence microscopy, Western blot analysis, and flow cytometry confirmed increased synthesis of ALDH1A1 (100640) and PPAR-gamma (PPARG; 601487) and increased production of reactive oxidative species in ATORS patient fibroblasts. Patient fibroblasts also showed activation of a noncanonical alpha-V (ITGAV; 193210)/beta-3 (ITGB3; 173470) integrin-mediated TGF-beta signaling pathway. Stable expression of GLUT10 partially normalized ATORS fibroblasts. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Lee et al. (2010) generated a mouse model of ATORS by introducing a gly128-to-glu (G128E) mutation in Glut10. Mice homozygous for the G128E mutation showed a mild phenotype of abnormal elastogenesis with elastic fiber proliferation by 10 months of age. Aortic smooth muscle cells cultured from Glut10(G128E/G128E) mice had normal morphology, but they showed reduced mitochondrial DHA uptake and elevated cellular reactive oxygen species following oxidative stress compared with wildtype. </p><p>Willaert et al. (2012) found that knockdown of Slc2a10 in zebrafish via antisense morpholino oligonucleotides resulted in a wavy notochord and cardiovascular abnormalities, with reduced heart rate and blood flow and incomplete and irregular vascular patterning, especially in the tail. Treatment with a small molecular inhibitor of Tgf-beta receptor-1 (TGFBR1; 190181) caused a similar phenotype, but it had no effect on Slc2a10 expression. Array hybridization revealed an approximately 50% overlap in genes that showed altered expression following Slc2a10 knockdown or Tgfbr1 inhibition. Both treatments downregulated genes involved in eye, cardiovascular, and nervous system development and cartilage formation. Slc2a10 knockdown uniquely affected genes involved in energy metabolism, calcium binding and homeostasis, and contractile muscle cytoskeleton and connective tissue, as well as additional genes involved in DNA replication and repair and cell cycle progression. Mitochondria of Slc2a10-knockdown embryos appeared normal, but they showed reduced oxygen consumption and blunted mitochondrial response to a chemical uncoupler. Knockdown of Slc2a10 partially rescued the deleterious effects of reduced levels of Smad7 (602932), an endogenous inhibitor of Tgfbr1. Willaert et al. (2012) concluded that Slc2a10 is an effector of TGF-beta signaling that exerts its effect downstream of SMADs. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>6 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 ARTERIAL TORTUOSITY SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC2A10, TRP170TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs80358229,
|
|
|
|
|
|
gnomAD: rs80358229,
|
|
|
|
|
|
ClinVar: RCV000004847, RCV001579411
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 families originating from the same region in Morocco, Coucke et al. (2006) found that arterial tortuosity syndrome (ATORS; 208050) was caused by a homozygous nonsense mutation in the SLC2A10 gene: 510G-A (W170X). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 ARTERIAL TORTUOSITY SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC2A10, 1-BP DEL, 961G
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587776599,
|
|
|
|
|
|
|
|
ClinVar: RCV000004848
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family originating from Morocco, Coucke et al. (2006) found that arterial tortuosity syndrome (ATORS; 208050) was caused by a homozygous 961delG mutation in the SLC2A10 gene, resulting in a frameshift (Val321fsTer391). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 ARTERIAL TORTUOSITY SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC2A10, 1-BP DEL, 1334G
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587776600,
|
|
|
|
|
|
|
|
ClinVar: RCV000004849, RCV000197366, RCV002310623, RCV003390642
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a consanguineous Italian kindred with arterial tortuosity syndrome (ATORS; 208050), the Sicilian family studied by Coucke et al. (2003) with 4 affected children in 2 sibships, Coucke et al. (2006) identified a homozygous frameshift mutation in the SLC2A10 gene, 1334delG (Gly445fsTer484), in affected individuals. </p><p>Callewaert et al. (2008) identified the 1334delG mutation in affected members of 4 European families with arterial tortuosity syndrome. Haplotype analysis suggested a founder effect. The authors noted that the mutation occurs in a highly conserved region in exon 3 and disrupts the endofacial loop between TMD10 and TMD11. In all patients, the mutation was in compound heterozygosity with another pathogenic SLC2A10 mutation (see, e.g., 606145.0005 and 606145.0006). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 ARTERIAL TORTUOSITY SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC2A10, SER81ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs80358230,
|
|
|
|
|
|
|
|
ClinVar: RCV000004850, RCV000498947, RCV003914808
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 Middle Eastern families with arterial tortuosity syndrome (ATORS; 208050), 1 with 6 affected sibs and another with 2 affected sibs, Coucke et al. (2006) identified a homozygous mutation, 243C-G, in the SLC2A10 gene. The mutation resulted in a ser81-to-arg (S81R) amino acid substitution. Affected individuals shared a common haplotype, indicating a founder mutation in these families. </p><p>Faiyaz-Ul-Haque et al. (2008) identified a homozygous S81R mutation in affected members of 10 Qatari families with arterial tortuosity syndrome. The substitution occurs in the third transmembrane domain of the SLC2A10 protein. Eight of the families belonged to a large consanguineous kindred that was part of an extended Bedouin tribe originally reported as having a unique form of Ehlers-Danlos syndrome (Abdul Wahab et al., 2003). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 ARTERIAL TORTUOSITY SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC2A10, GLY426TRP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908172,
|
|
|
|
|
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gnomAD: rs121908172,
|
|
|
|
|
|
ClinVar: RCV000004851, RCV000199687, RCV002371760
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of 3 families with arterial tortuosity syndrome (ATORS; 208050), Callewaert et al. (2008) identified a 1276G-T transversion in exon 2 of the SLC2A10 gene, resulting in a gly426-to-trp (G426W) substitution in TMD10. In all patients, the mutation was in compound heterozygosity with another pathogenic SLC2A10 mutation (see 606145.0003 and 606145.0006). Haplotype analysis suggested a founder effect for the G426W mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
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|
|
|
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<div>
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 ARTERIAL TORTUOSITY SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC2A10, ARG132TRP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908173,
|
|
|
|
|
|
gnomAD: rs121908173,
|
|
|
|
|
|
ClinVar: RCV000004852, RCV000616750, RCV001558568
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of 3 families with arterial tortuosity syndrome (ATORS; 208050), Callewaert et al. (2008) identified a 394C-T transition in exon 2 of the SLC2A10 gene, resulting in an arg132-to-trp (R132W) substitution in the endofacial loop between TMD4 and TMD5. In all patients, the mutation was in compound heterozygosity with another pathogenic SLC2A10 mutation (see 606145.0003 and 606145.0005). Haplotype analysis suggested a founder effect for the R132W mutation. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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</div>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Abdul Wahab, A., Janahi, I. A., Eltohami, A., Zeid, A., Ul Haque, M. F., Teebi, A. S.
|
|
<strong>A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar.</strong>
|
|
Acta Paediat. 92: 456-462, 2003. Note: Erratum: Acta Paediat. 99: 1112 only, 2010.
|
|
|
|
|
|
[PubMed: 12801113]
|
|
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|
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[Full Text: https://doi.org/10.1111/j.1651-2227.2003.tb00578.x]
|
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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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<strong>Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.</strong>
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<strong>Identification of a pSer81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families. (Letter)</strong>
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Lee, Y.-C., Huang, H.-Y., Chang, C.-J., Cheng, C.-H., Chen, Y.-T.
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<strong>Molecular cloning of a novel member of the GLUT family of transporters, SLC2A10 (GLUT10), localized on chromosome 20q13.1: a candidate gene for NIDDM susceptibility.</strong>
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Willaert, A., Khatri, S., Callewaert, B. L., Coucke, P. J., Crosby, S. D., Lee, J. G. H., Davis, E. C., Shiva, S., Tsang, M., De Paepe, A., Urban, Z.
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<strong>GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGF-beta signaling.</strong>
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<strong>Expression of class III facilitative glucose transporter genes (GLUT-10 and GLUT-12) in mouse and human adipose tissues.</strong>
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Zoppi, N., Chiarelli, N., Cinquina, V., Ritelli, M., Colombi, M.
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