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<title>
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Entry
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- *182380 - SOLUTE CARRIER FAMILY 5 (SODIUM/GLUCOSE COTRANSPORTER), MEMBER 1; SLC5A1
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- OMIM
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</nav>
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<div id="mimSearch" class="hidden-print">
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<div class="container">
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<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="hidden" id="mimSearchStart" name="start" value="1" />
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<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
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<div class="input-group">
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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<li class="dropdown-header">
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Advanced Search
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/entry"> OMIM </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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<a href="/history"> Search History </a>
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</form>
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<div class="row">
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<p />
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<div class="row">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*182380</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation">
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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/182380">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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</div>
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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=ENSG00000100170;t=ENST00000266088" 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=6523" 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=182380" 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=ENSG00000100170;t=ENST00000266088" 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_000343,NM_001256314,XM_011530331" 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_000343" 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=182380" 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=01668&isoform_id=01668_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/SLC5A1" 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/127803,338055,529056,4507031,47678689,119580410,145337974,189066539,221041936,221045756,372622382,768025570,2462585336" 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/P13866" 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=6523" 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=ENSG00000100170;t=ENST00000266088" 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=SLC5A1" 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=SLC5A1" 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+6523" 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/SLC5A1" 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:6523" 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/6523" 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=chr22&hgg_gene=ENST00000266088.9&hgg_start=32043261&hgg_end=32113029&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
|
|
<span class="panel-title">
|
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<span class="small">
|
|
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11036" 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://medlineplus.gov/genetics/gene/slc5a1" 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=182380[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=182380[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/ENSG00000100170" 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=SLC5A1" 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=SLC5A1" 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=SLC5A1" 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=SLC5A1&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/PA308" 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">
|
|
<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:11036" 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:107678" 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/SLC5A1#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:107678" 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/6523/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=6523" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-040426-1524" 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">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
|
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</div>
|
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</a>
|
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</span>
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</span>
|
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</div>
|
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6523" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=SLC5A1&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> 190749000, 27943000<br />
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<strong>ICD10CM:</strong> E74.39<br />
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">ICD+</a>
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</div>
|
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<div>
|
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<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
|
182380
|
|
</span>
|
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</span>
|
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</div>
|
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</div>
|
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<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
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SOLUTE CARRIER FAMILY 5 (SODIUM/GLUCOSE COTRANSPORTER), MEMBER 1; SLC5A1
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</span>
|
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</h3>
|
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</div>
|
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<div>
|
|
<br />
|
|
</div>
|
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<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
SODIUM-GLUCOSE TRANSPORTER 1; SGLT1<br />
|
|
SODIUM-GLUCOSE COTRANSPORTER, INTESTINAL<br />
|
|
NA+/GLUCOSE COTRANSPORTER, HIGH AFFINITY; NAGT
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
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|
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|
|
</div>
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|
|
<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=SLC5A1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SLC5A1</a></em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/22/197?start=-3&limit=10&highlight=197">22q12.3</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr22:32043261-32113029&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'})">22:32,043,261-32,113,029</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
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|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
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|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
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<p>Glucose transporters are integral membrane proteins that mediate the transport of glucose and structurally-related substances across cellular membranes. Two families of glucose transporter have been identified: the facilitated-diffusion glucose transporter family (GLUT family), also known as 'uniporters,' and the sodium-dependent glucose transporter family (SGLT family), also known as 'cotransporters' or 'symporters.' The SLC5A1 gene encodes a protein that is involved in the active transport of glucose and galactose into eukaryotic and some prokaryotic cells (summary by <a href="#17" class="mim-tip-reference" title="Wright, E. M., Loo, D. D. F., Panayotova-Heiermann, M., Lostao, M. P., Hirayama, B. H., Mackenzie, B., Boorer, K., Zampighi, G. <strong>'Active' sugar transport in eukaryotes.</strong> J. Exp. Biol. 196: 197-212, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7823022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7823022</a>] [<a href="https://doi.org/10.1242/jeb.196.1.197" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7823022">Wright et al., 1994</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7823022" 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="#3" class="mim-tip-reference" title="Hediger, M. A., Coady, M. J., Ikeda, T. S., Wright, E. M. <strong>Expression cloning and cDNA sequencing of the Na+/glucose co-transporter.</strong> Nature 330: 379-381, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2446136/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2446136</a>] [<a href="https://doi.org/10.1038/330379a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2446136">Hediger et al. (1987)</a> determined the primary structure of the sodium/glucose cotransporter from rabbit small intestine by expression cloning and cDNA sequencing. Unexpectedly, the sodium/glucose cotransporter showed no homology with the facilitated glucose carrier (SLC2A1; <a href="/entry/138140">138140</a>) or with bacterial sugar transport proteins. Thus, it was named the first member of a novel gene family, the SGLT1 family. <a href="#6" class="mim-tip-reference" title="Hediger, M. A., Turk, E., Wright, E. M. <strong>Homology of the human intestinal Na+/glucose and Escherichia coli Na+/proline cotransporters.</strong> Proc. Nat. Acad. Sci. 86: 5748-5752, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2490366/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2490366</a>] [<a href="https://doi.org/10.1073/pnas.86.15.5748" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2490366">Hediger et al. (1989)</a> cloned and sequenced the human intestinal sodium/glucose transporter, SLC5A1. They found 95% similarity between the human and rabbit amino acid sequences. They determined that the human protein has 664 amino acids with a molecular mass of approximately 73 kD. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2446136+2490366" 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>Northern blot analysis indicates that SLC5A1 mRNA is present mainly in intestine and kidney (<a href="#12" class="mim-tip-reference" title="Pajor, A., Wright, E. M. <strong>Cloning and functional expression of a mammalian Na+/nucleoside cotransporter: a member of the SGLT family.</strong> J. Biol. Chem. 267: 3557-3560, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1740408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1740408</a>]" pmid="1740408">Pajor and Wright, 1992</a>). The SLC5A1 protein contains a core of 13 transmembrane domains, which it shares with other members of the gene family, and it contains an additional transmembrane appended to the C terminus (<a href="#15" class="mim-tip-reference" title="Turk, E, Wright, E. M. <strong>Membrane topology motifs in the SGLT cotransporter family.</strong> J. Membr. Biol. 159: 1-20, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9309206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9309206</a>] [<a href="https://doi.org/10.1007/s002329900264" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9309206">Turk and Wright, 1997</a>). There is a heavily glycosylated site at asn248 (<a href="#5" class="mim-tip-reference" title="Hediger, M. A., Mendlein, J., Lee, H.-S., Wright, E. M. <strong>Biosynthesis of the cloned Na+/glucose.</strong> Biochim. Biophys. Acta 1064: 360-364, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1903656/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1903656</a>] [<a href="https://doi.org/10.1016/0005-2736(91)90323-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1903656">Hediger et al., 1991</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9309206+1740408+1903656" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a review of sodium/substrate symporter family proteins, <a href="#7" class="mim-tip-reference" title="Jung, H. <strong>The sodium/substrate symporter family: structural and functional features.</strong> FEBS Lett. 529: 73-77, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12354616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12354616</a>] [<a href="https://doi.org/10.1016/s0014-5793(02)03184-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12354616">Jung (2002)</a> stated that human SGLT1 is an asymmetrical monomer containing 14 transmembrane domains, with the N terminus located on the periplasmic side of the membrane and the C terminus facing the cytoplasm. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12354616" 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 confocal imaging analysis in human pancreas, <a href="#1" class="mim-tip-reference" title="Bonner, C., Kerr-Conte, J., Gmyr, V., Queniat, G., Moerman, E., Thevenet, J., Beaucamps, C., Delalleau, N., Popescu, I., Malaisse, W. J., Sener, A., Deprez, B., Abderrahmani, A., Staels, B., Pattou, F. <strong>Inhibition of the glucose transporter SGLT2 with dapagliflozin in pancreatic alpha cells triggers glucagon secretion.</strong> Nature Med. 21: 512-517, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25894829/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25894829</a>] [<a href="https://doi.org/10.1038/nm.3828" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25894829">Bonner et al. (2015)</a> demonstrated that both SGLT1 and SGLT2 (SLC5A2; <a href="/entry/182381">182381</a>) colocalize with glucagon in alpha cells, but not with insulin in beta cells. Western blot analysis confirmed the localization of SGLT1 and SGLT2 in human islet cells. Consistent with these results, mRNA from both SLC5A1 and SLC5A2 was more abundantly expressed in purified human alpha cells than in beta cells or dispersed islets. Immunofluorescence analysis confirmed that SGLT1 and SGLT2 proteins remained colocalized with glucagon in islets from both obese individuals and those with type 2 diabetes (<a href="/entry/125853">125853</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25894829" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Hediger, M. A., Coady, M. J., Mohandas, T., Shapiro, H. J., Wright, E. M. <strong>The human Na+/glucose cotransporter gene is located on chromosome 22. (Abstract)</strong> FASEB J. 2: A1021, 1988."None>Hediger et al. (1988)</a> used a cDNA clone to probe human DNA and to map the human SLC5A1 gene. By Southern blot analysis of DNA from a panel of mouse-human hybrids, they demonstrated that only those hybrids containing chromosome 22 showed the characteristic bands identified by Southern analysis of human DNA. <a href="#2" class="mim-tip-reference" title="Hediger, M. A., Budarf, M. L., Emanuel, B. S., Mohandas, T. K., Wright, E. M. <strong>Assignment of the human intestinal Na+/glucose cotransporter gene (SGLT1) to the q11.2-qter region of chromosome 22.</strong> Genomics 4: 297-300, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2714793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2714793</a>] [<a href="https://doi.org/10.1016/0888-7543(89)90333-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2714793">Hediger et al. (1989)</a> mapped the SLC5A1 gene to 22q11.2-qter by study of DNA from somatic cell hybrids. A RFLP was identified with EcoRI. By fluorescence in situ hybridization, <a href="#13" class="mim-tip-reference" title="Turk, E., Klisak, I., Bacallao, R., Sparkes, R. S., Wright, E. M. <strong>Assignment of the human Na(+)/glucose cotransporter gene SGLT1 to chromosome 22q13.1.</strong> Genomics 17: 752-754, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8244393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8244393</a>] [<a href="https://doi.org/10.1006/geno.1993.1399" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8244393">Turk et al. (1993)</a> localized the gene to 22q13.1. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2714793+8244393" 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="#14" class="mim-tip-reference" title="Turk, E., Martin, M. G., Wright, E. M. <strong>Structure of the human Na+/glucose cotransporter gene SGLT1.</strong> J. Biol. Chem. 269: 15204-15209, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8195156/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8195156</a>]" pmid="8195156">Turk et al. (1994)</a> demonstrated that the SGLT1 gene contains 15 exons spanning 72 kb. Transcription initiation occurs from a site 27 bp 3-prime of a TATAA sequence. Sequence considerations and comparison of exons against protein secondary structure suggested a possible evolutionary origin of the SGLT1 gene from a 6-membrane-span ancestral precursor via a gene duplication event. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8195156" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The intestinal sodium/glucose cotransporter is responsible for 'active' glucose absorption across the brush border membrane of the cells that line the gastrointestinal tract. This is an energy-requiring action that is driven by the sodium/potassium ATPase located at the basolateral cell membrane (<a href="#17" class="mim-tip-reference" title="Wright, E. M., Loo, D. D. F., Panayotova-Heiermann, M., Lostao, M. P., Hirayama, B. H., Mackenzie, B., Boorer, K., Zampighi, G. <strong>'Active' sugar transport in eukaryotes.</strong> J. Exp. Biol. 196: 197-212, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7823022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7823022</a>] [<a href="https://doi.org/10.1242/jeb.196.1.197" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7823022">Wright et al., 1994</a>). The transepithelial absorption of glucose and galactose is then completed at the basal lateral membrane through the facilitated glucose transporter, which is similar if not identical to the 55-kD glucose carrier in erythrocytes (<a href="#11" class="mim-tip-reference" title="Mueckler, M., Caruso, C., Baldwin, S. A., Panico, M., Blench, I., Morris, H. R., Allard, W. J., Lienhard, G. E., Lodish, H. F. <strong>Sequence and structure of a human glucose transporter.</strong> Science 229: 941-945, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3839598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3839598</a>] [<a href="https://doi.org/10.1126/science.3839598" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3839598">Mueckler et al., 1985</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3839598+7823022" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a review of sodium/substrate symporter family proteins, <a href="#7" class="mim-tip-reference" title="Jung, H. <strong>The sodium/substrate symporter family: structural and functional features.</strong> FEBS Lett. 529: 73-77, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12354616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12354616</a>] [<a href="https://doi.org/10.1016/s0014-5793(02)03184-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12354616">Jung (2002)</a> stated that SGLT1 catalyzes uptake of Na+ and glucose with a 2:1 stoichiometry, coupled with the transport of 264 water molecules. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12354616" 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="#8" class="mim-tip-reference" title="Margolskee, R. F., Dyer, J., Kokrashvili, Z., Salmon, K. S. H., Ilegems, E., Daly, K., Maillet, E. L., Ninomiya, Y., Mosinger, B., Shirazi-Beechey, S. P. <strong>T1R3 and gustducin in gut sense sugars to regulate expression of Na(+)-glucose cotransporter 1.</strong> Proc. Nat. Acad. Sci. 104: 15075-15080, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17724332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17724332</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17724332[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0706678104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17724332">Margolskee et al. (2007)</a> demonstrated that dietary sugar and artificial sweeteners increased intestinal SGLT1 mRNA and protein expression and increased glucose absorptive capacity in wildtype mice but not in knockout mice lacking the T1R2-T1R3 sweet taste receptor (see <a href="/entry/606226">606226</a>) or alpha-gustducin (<a href="/entry/139395">139395</a>). In mouse GLUTag enteroendocrine cells, sucralose increased the release of GLP1 (see <a href="/entry/138030">138030</a>) and GIP (<a href="/entry/137240">137240</a>), gut hormones implicated in SGLT1 upregulation, and increased intracellular calcium; inhibition of the T1R2-T1R3 sweet taste receptor by gurmarin blocked the sucralose-stimulated release of GLP1 and GIP and the sucralose-dependent mobilization of calcium in GLUTag cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17724332" 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="#16" class="mim-tip-reference" title="Turk, E., Zabel, B., Mundlos, S., Dyer, J., Wright, E. M. <strong>Glucose/galactose malabsorption caused by a defect in the Na(+)/glucose cotransporter.</strong> Nature 350: 354-356, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2008213/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2008213</a>] [<a href="https://doi.org/10.1038/350354a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2008213">Turk et al. (1991)</a> identified a missense mutation (<a href="#0001">182380.0001</a>) in the SLC5A1 gene in 2 related patients with glucose/galactose malabsorption (GGM; <a href="/entry/606824">606824</a>). <a href="#10" class="mim-tip-reference" title="Martin, M. G., Turk, E., Lostao, M. P., Kerner, C., Wright, E. M. <strong>Defects in Na(+)/glucose cotransporter (SGLT1) trafficking and function cause glucose-galactose malabsorption.</strong> Nature Genet. 12: 216-220, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8563765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8563765</a>] [<a href="https://doi.org/10.1038/ng0296-216" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8563765">Martin et al. (1996)</a> identified 31 novel mutations of SLC5A1 in 25 families with glucose/galactose malabsorption. In 16 families, the mutation was homozygous; 3 of these showed more than 1 mutation, including 1 kindred that had both homozygous and compound heterozygous mutations. Four mutations were found each in 2 presumably unrelated kindreds. There was a nonrandom distribution of missense mutations, with 8 such mutations in 2 conserved 'hotspots.' The finding established the protein encoded by SLC5A1 to be primarily responsible for intestinal uptake of glucose and galactose. See review by <a href="#18" class="mim-tip-reference" title="Wright, E. M., Turk, E., Zabel, B., Mundlos, S., Dyer, J. <strong>Molecular genetics of intestinal glucose transport.</strong> J. Clin. Invest. 88: 1435-1440, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1939637/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1939637</a>] [<a href="https://doi.org/10.1172/JCI115451" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1939637">Wright et al., 1991</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2008213+8563765+1939637" 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 33 patients from an extended Old Order Amish pedigree with GGM, <a href="#19" class="mim-tip-reference" title="Xin, B., Wang, H. <strong>Multiple sequence variations in SLC5A1 gene are associated with glucose-galactose malabsorption in a large cohort of Old Order Amish.</strong> Clin. Genet. 79: 86-91, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20486940/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20486940</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2010.01440.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20486940">Xin and Wang (2011)</a> identified homozygosity for 4 nonsynonymous variants in the SLC5A1 gene that occurred on a founder haplotype. One of the variants (R558H; <a href="#0003">182380.0003</a>) had not previously been reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20486940" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=182380[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912668 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912668;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=rs121912668" 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=rs121912668" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 sisters with glucose/galactose malabsorption (GGM; <a href="/entry/606824">606824</a>), <a href="#16" class="mim-tip-reference" title="Turk, E., Zabel, B., Mundlos, S., Dyer, J., Wright, E. M. <strong>Glucose/galactose malabsorption caused by a defect in the Na(+)/glucose cotransporter.</strong> Nature 350: 354-356, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2008213/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2008213</a>] [<a href="https://doi.org/10.1038/350354a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2008213">Turk et al. (1991)</a> demonstrated a G-to-A transition at nucleotide 92, resulting in substitution of asparagine for aspartic acid at amino acid 28 of the sodium/glucose cotransporter protein. The finding establishes the protein encoded by SGLT1 to be primarily responsible for intestinal uptake of glucose and galactose. <a href="#14" class="mim-tip-reference" title="Turk, E., Martin, M. G., Wright, E. M. <strong>Structure of the human Na+/glucose cotransporter gene SGLT1.</strong> J. Biol. Chem. 269: 15204-15209, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8195156/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8195156</a>]" pmid="8195156">Turk et al. (1994)</a> corrected the location of the G-to-A transition mutation to be at nucleotide 105. The family in which <a href="#14" class="mim-tip-reference" title="Turk, E., Martin, M. G., Wright, E. M. <strong>Structure of the human Na+/glucose cotransporter gene SGLT1.</strong> J. Biol. Chem. 269: 15204-15209, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8195156/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8195156</a>]" pmid="8195156">Turk et al. (1994)</a> demonstrated the D28N mutation was of Syrian descent. The parents were first cousins and the first affected child experienced severe diarrhea and dehydration starting on the first day of life. She was managed with a combination of formula and parenteral nutrition until about a year later, when a second sib was born with similar symptoms. The suspicion of GGM was confirmed by oral tolerance test, which revealed impairment of galactose and glucose absorption while that for xylose and fructose was normal. Glucose breath hydrogen test revealed severe malabsorption, while fructose was normal. Both children were free of diarrhea when on a glucose and galactose-restricted diet. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2008213+8195156" 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="Martin, M. G., Turk, E., Kerner, C., Zabel, B., Wirth, S., Wright, E. M. <strong>Prenatal identification of a heterozygous status in two fetuses at risk for glucose-galactose malabsorption.</strong> Prenatal Diag. 16: 458-462, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8844006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8844006</a>] [<a href="https://doi.org/10.1002/(SICI)1097-0223(199605)16:5<458::AID-PD873>3.0.CO;2-U" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8844006">Martin et al. (1996)</a> performed prenatal diagnosis in 2 subsequent pregnancies in a large consanguineous family using EcoRV restriction digestion. One showed that the fetus was heterozygous and the other showed that the fetus was not a carrier of the D28N mutation. Both children at 2 years of age remained healthy with no diarrhea. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8844006" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121912669 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912669;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/rs121912669?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=rs121912669" 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=rs121912669" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p><a href="#14" class="mim-tip-reference" title="Turk, E., Martin, M. G., Wright, E. M. <strong>Structure of the human Na+/glucose cotransporter gene SGLT1.</strong> J. Biol. Chem. 269: 15204-15209, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8195156/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8195156</a>]" pmid="8195156">Turk et al. (1994)</a> described a missense mutation of the SGLT1 gene in a 4-year-old Lebanese child with first-cousin parents. The diagnosis of glucose/galactose malabsorption (GGM; <a href="/entry/606824">606824</a>) was made after the child presented with severe diarrhea and dehydration. Intestinal absorption of D-glucose was severely impaired, while the absorption of D-fructose was normal. The mutation in the SGLT1 gene was an A-to-G transition at nucleotide 106 which led to an asp28-to-gly mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8195156" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs201799893 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs201799893;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/rs201799893?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=rs201799893" 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=rs201799893" 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=RCV000114940 OR RCV000726922" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000114940, RCV000726922" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000114940...</a>
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<p>In 33 patients from an extended Old Order Amish pedigree with glucose/galactose malabsorption (GGM; <a href="/entry/606824">606824</a>), <a href="#19" class="mim-tip-reference" title="Xin, B., Wang, H. <strong>Multiple sequence variations in SLC5A1 gene are associated with glucose-galactose malabsorption in a large cohort of Old Order Amish.</strong> Clin. Genet. 79: 86-91, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20486940/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20486940</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2010.01440.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20486940">Xin and Wang (2011)</a> identified a homozygous c.1673G-A transition in exon 14 of the SLC5A1 gene, resulting in an arg558-to-his (R558H) substitution at a highly conserved residue. The mutation, which segregated with the disorder in the families, was not found in a large control database. All patients were also homozygous for 3 additional nonsynonymous variants in the SLC5A1 gene: c.152A-G, resulting in an asn51-to-ser (N51S) substitution (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs17683011;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs17683011</a>); c.1231G-A, resulting in an ala411-to-thr (A411T) substitution (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs17683430;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs17683430</a>); and c.1845C-G, resulting in a his615-to-gln (H615Q) substitution (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33954001;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs33954001</a>). All 4 mutations segregated with the disorder in the families. Heterozygosity for the 4 mutations, which were present on a common haplotype, was found in 5% of Amish control alleles, indicating a founder effect. <a href="#19" class="mim-tip-reference" title="Xin, B., Wang, H. <strong>Multiple sequence variations in SLC5A1 gene are associated with glucose-galactose malabsorption in a large cohort of Old Order Amish.</strong> Clin. Genet. 79: 86-91, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20486940/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20486940</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2010.01440.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20486940">Xin and Wang (2011)</a> noted that N51S occurred at a conserved residue and may also affect the protein. No functional studies were performed, and it was unclear how each individual mutation affected SLC5A1 protein function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20486940" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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[<a href="https://doi.org/10.1016/0005-2736(91)90323-z" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.86.15.5748" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1126/science.3839598" target="_blank">Full Text</a>]
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Turk, E., Klisak, I., Bacallao, R., Sparkes, R. S., Wright, E. M.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8244393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8244393</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8244393" 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.1993.1399" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Turk1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Turk, E., Martin, M. G., Wright, E. M.
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<strong>Structure of the human Na+/glucose cotransporter gene SGLT1.</strong>
|
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J. Biol. Chem. 269: 15204-15209, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8195156/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8195156</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8195156" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Turk1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Turk, E, Wright, E. M.
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|
<strong>Membrane topology motifs in the SGLT cotransporter family.</strong>
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J. Membr. Biol. 159: 1-20, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9309206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9309206</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9309206" 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/10.1007/s002329900264" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Turk1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Turk, E., Zabel, B., Mundlos, S., Dyer, J., Wright, E. M.
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|
<strong>Glucose/galactose malabsorption caused by a defect in the Na(+)/glucose cotransporter.</strong>
|
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Nature 350: 354-356, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2008213/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2008213</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2008213" 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/10.1038/350354a0" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="17" class="mim-anchor"></a>
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<a id="Wright1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wright, E. M., Loo, D. D. F., Panayotova-Heiermann, M., Lostao, M. P., Hirayama, B. H., Mackenzie, B., Boorer, K., Zampighi, G.
|
|
<strong>'Active' sugar transport in eukaryotes.</strong>
|
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J. Exp. Biol. 196: 197-212, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7823022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7823022</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7823022" 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/10.1242/jeb.196.1.197" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="18" class="mim-anchor"></a>
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<a id="Wright1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wright, E. M., Turk, E., Zabel, B., Mundlos, S., Dyer, J.
|
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<strong>Molecular genetics of intestinal glucose transport.</strong>
|
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J. Clin. Invest. 88: 1435-1440, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1939637/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1939637</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1939637" 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/10.1172/JCI115451" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="19" class="mim-anchor"></a>
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<a id="Xin2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Xin, B., Wang, H.
|
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<strong>Multiple sequence variations in SLC5A1 gene are associated with glucose-galactose malabsorption in a large cohort of Old Order Amish.</strong>
|
|
Clin. Genet. 79: 86-91, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20486940/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20486940</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20486940" 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.1399-0004.2010.01440.x" target="_blank">Full Text</a>]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Bao Lige - updated : 10/16/2019
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</span>
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</div>
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</div>
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<div class="row collapse" id="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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Marla J. F. O'Neill - updated : 11/12/2015<br>Cassandra L. Kniffin - updated : 8/6/2013<br>Marla J. F. O'Neill - updated : 12/19/2008<br>Cassandra L. Kniffin - reorganized : 4/15/2002<br>Wilson H. Y. Lo - updated : 2/18/1997
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/29/1988
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 07/19/2021
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 10/16/2019<br>alopez : 11/12/2015<br>carol : 4/23/2014<br>carol : 4/23/2014<br>mcolton : 4/22/2014<br>ckniffin : 8/6/2013<br>wwang : 12/22/2008<br>terry : 12/19/2008<br>terry : 6/26/2002<br>terry : 6/26/2002<br>carol : 4/15/2002<br>carol : 4/15/2002<br>ckniffin : 4/15/2002<br>ckniffin : 4/15/2002<br>ckniffin : 4/15/2002<br>carol : 3/8/2002<br>terry : 3/8/2002<br>carol : 1/22/1999<br>alopez : 5/15/1998<br>joanna : 8/11/1997<br>joanna : 7/18/1997<br>mark : 2/18/1997<br>jamie : 12/4/1996<br>terry : 11/8/1996<br>mark : 4/1/1996<br>mark : 2/1/1996<br>terry : 1/30/1996<br>terry : 1/30/1996<br>mimadm : 3/25/1995<br>carol : 8/25/1994<br>terry : 5/11/1994<br>warfield : 3/15/1994<br>carol : 9/21/1993<br>carol : 9/15/1993
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</span>
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</div>
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</div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 182380
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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SOLUTE CARRIER FAMILY 5 (SODIUM/GLUCOSE COTRANSPORTER), MEMBER 1; SLC5A1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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<div>
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<h4>
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<span class="mim-font">
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SODIUM-GLUCOSE TRANSPORTER 1; SGLT1<br />
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SODIUM-GLUCOSE COTRANSPORTER, INTESTINAL<br />
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NA+/GLUCOSE COTRANSPORTER, HIGH AFFINITY; NAGT
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: SLC5A1</em></strong>
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</span>
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</p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 190749000, 27943000;
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<strong>ICD10CM:</strong> E74.39;
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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: 22q12.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 22:32,043,261-32,113,029 </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>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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22q12.3
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</td>
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<td>
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<span class="mim-font">
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Glucose/galactose malabsorption
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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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606824
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<br />
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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>Glucose transporters are integral membrane proteins that mediate the transport of glucose and structurally-related substances across cellular membranes. Two families of glucose transporter have been identified: the facilitated-diffusion glucose transporter family (GLUT family), also known as 'uniporters,' and the sodium-dependent glucose transporter family (SGLT family), also known as 'cotransporters' or 'symporters.' The SLC5A1 gene encodes a protein that is involved in the active transport of glucose and galactose into eukaryotic and some prokaryotic cells (summary by Wright et al., 1994). </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>Hediger et al. (1987) determined the primary structure of the sodium/glucose cotransporter from rabbit small intestine by expression cloning and cDNA sequencing. Unexpectedly, the sodium/glucose cotransporter showed no homology with the facilitated glucose carrier (SLC2A1; 138140) or with bacterial sugar transport proteins. Thus, it was named the first member of a novel gene family, the SGLT1 family. Hediger et al. (1989) cloned and sequenced the human intestinal sodium/glucose transporter, SLC5A1. They found 95% similarity between the human and rabbit amino acid sequences. They determined that the human protein has 664 amino acids with a molecular mass of approximately 73 kD. </p><p>Northern blot analysis indicates that SLC5A1 mRNA is present mainly in intestine and kidney (Pajor and Wright, 1992). The SLC5A1 protein contains a core of 13 transmembrane domains, which it shares with other members of the gene family, and it contains an additional transmembrane appended to the C terminus (Turk and Wright, 1997). There is a heavily glycosylated site at asn248 (Hediger et al., 1991). </p><p>In a review of sodium/substrate symporter family proteins, Jung (2002) stated that human SGLT1 is an asymmetrical monomer containing 14 transmembrane domains, with the N terminus located on the periplasmic side of the membrane and the C terminus facing the cytoplasm. </p><p>Using confocal imaging analysis in human pancreas, Bonner et al. (2015) demonstrated that both SGLT1 and SGLT2 (SLC5A2; 182381) colocalize with glucagon in alpha cells, but not with insulin in beta cells. Western blot analysis confirmed the localization of SGLT1 and SGLT2 in human islet cells. Consistent with these results, mRNA from both SLC5A1 and SLC5A2 was more abundantly expressed in purified human alpha cells than in beta cells or dispersed islets. Immunofluorescence analysis confirmed that SGLT1 and SGLT2 proteins remained colocalized with glucagon in islets from both obese individuals and those with type 2 diabetes (125853). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Hediger et al. (1988) used a cDNA clone to probe human DNA and to map the human SLC5A1 gene. By Southern blot analysis of DNA from a panel of mouse-human hybrids, they demonstrated that only those hybrids containing chromosome 22 showed the characteristic bands identified by Southern analysis of human DNA. Hediger et al. (1989) mapped the SLC5A1 gene to 22q11.2-qter by study of DNA from somatic cell hybrids. A RFLP was identified with EcoRI. By fluorescence in situ hybridization, Turk et al. (1993) localized the gene to 22q13.1. </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">
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<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>Turk et al. (1994) demonstrated that the SGLT1 gene contains 15 exons spanning 72 kb. Transcription initiation occurs from a site 27 bp 3-prime of a TATAA sequence. Sequence considerations and comparison of exons against protein secondary structure suggested a possible evolutionary origin of the SGLT1 gene from a 6-membrane-span ancestral precursor via a gene duplication event. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The intestinal sodium/glucose cotransporter is responsible for 'active' glucose absorption across the brush border membrane of the cells that line the gastrointestinal tract. This is an energy-requiring action that is driven by the sodium/potassium ATPase located at the basolateral cell membrane (Wright et al., 1994). The transepithelial absorption of glucose and galactose is then completed at the basal lateral membrane through the facilitated glucose transporter, which is similar if not identical to the 55-kD glucose carrier in erythrocytes (Mueckler et al., 1985). </p><p>In a review of sodium/substrate symporter family proteins, Jung (2002) stated that SGLT1 catalyzes uptake of Na+ and glucose with a 2:1 stoichiometry, coupled with the transport of 264 water molecules. </p><p>Margolskee et al. (2007) demonstrated that dietary sugar and artificial sweeteners increased intestinal SGLT1 mRNA and protein expression and increased glucose absorptive capacity in wildtype mice but not in knockout mice lacking the T1R2-T1R3 sweet taste receptor (see 606226) or alpha-gustducin (139395). In mouse GLUTag enteroendocrine cells, sucralose increased the release of GLP1 (see 138030) and GIP (137240), gut hormones implicated in SGLT1 upregulation, and increased intracellular calcium; inhibition of the T1R2-T1R3 sweet taste receptor by gurmarin blocked the sucralose-stimulated release of GLP1 and GIP and the sucralose-dependent mobilization of calcium in GLUTag cells. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Turk et al. (1991) identified a missense mutation (182380.0001) in the SLC5A1 gene in 2 related patients with glucose/galactose malabsorption (GGM; 606824). Martin et al. (1996) identified 31 novel mutations of SLC5A1 in 25 families with glucose/galactose malabsorption. In 16 families, the mutation was homozygous; 3 of these showed more than 1 mutation, including 1 kindred that had both homozygous and compound heterozygous mutations. Four mutations were found each in 2 presumably unrelated kindreds. There was a nonrandom distribution of missense mutations, with 8 such mutations in 2 conserved 'hotspots.' The finding established the protein encoded by SLC5A1 to be primarily responsible for intestinal uptake of glucose and galactose. See review by Wright et al., 1991. </p><p>In 33 patients from an extended Old Order Amish pedigree with GGM, Xin and Wang (2011) identified homozygosity for 4 nonsynonymous variants in the SLC5A1 gene that occurred on a founder haplotype. One of the variants (R558H; 182380.0003) had not previously been reported. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>3 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 GLUCOSE/GALACTOSE MALABSORPTION</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLC5A1, ASP28ASN
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<br />
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SNP: rs121912668,
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ClinVar: RCV000013770
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 sisters with glucose/galactose malabsorption (GGM; 606824), Turk et al. (1991) demonstrated a G-to-A transition at nucleotide 92, resulting in substitution of asparagine for aspartic acid at amino acid 28 of the sodium/glucose cotransporter protein. The finding establishes the protein encoded by SGLT1 to be primarily responsible for intestinal uptake of glucose and galactose. Turk et al. (1994) corrected the location of the G-to-A transition mutation to be at nucleotide 105. The family in which Turk et al. (1994) demonstrated the D28N mutation was of Syrian descent. The parents were first cousins and the first affected child experienced severe diarrhea and dehydration starting on the first day of life. She was managed with a combination of formula and parenteral nutrition until about a year later, when a second sib was born with similar symptoms. The suspicion of GGM was confirmed by oral tolerance test, which revealed impairment of galactose and glucose absorption while that for xylose and fructose was normal. Glucose breath hydrogen test revealed severe malabsorption, while fructose was normal. Both children were free of diarrhea when on a glucose and galactose-restricted diet. </p><p>Martin et al. (1996) performed prenatal diagnosis in 2 subsequent pregnancies in a large consanguineous family using EcoRV restriction digestion. One showed that the fetus was heterozygous and the other showed that the fetus was not a carrier of the D28N mutation. Both children at 2 years of age remained healthy with no diarrhea. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 GLUCOSE/GALACTOSE MALABSORPTION</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLC5A1, ASP28GLY
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<br />
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SNP: rs121912669,
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gnomAD: rs121912669,
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ClinVar: RCV000013771
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Turk et al. (1994) described a missense mutation of the SGLT1 gene in a 4-year-old Lebanese child with first-cousin parents. The diagnosis of glucose/galactose malabsorption (GGM; 606824) was made after the child presented with severe diarrhea and dehydration. Intestinal absorption of D-glucose was severely impaired, while the absorption of D-fructose was normal. The mutation in the SGLT1 gene was an A-to-G transition at nucleotide 106 which led to an asp28-to-gly mutation. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 GLUCOSE/GALACTOSE MALABSORPTION</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLC5A1, ARG558HIS
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<br />
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SNP: rs201799893,
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gnomAD: rs201799893,
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ClinVar: RCV000114940, RCV000726922
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 33 patients from an extended Old Order Amish pedigree with glucose/galactose malabsorption (GGM; 606824), Xin and Wang (2011) identified a homozygous c.1673G-A transition in exon 14 of the SLC5A1 gene, resulting in an arg558-to-his (R558H) substitution at a highly conserved residue. The mutation, which segregated with the disorder in the families, was not found in a large control database. All patients were also homozygous for 3 additional nonsynonymous variants in the SLC5A1 gene: c.152A-G, resulting in an asn51-to-ser (N51S) substitution (rs17683011); c.1231G-A, resulting in an ala411-to-thr (A411T) substitution (rs17683430); and c.1845C-G, resulting in a his615-to-gln (H615Q) substitution (rs33954001). All 4 mutations segregated with the disorder in the families. Heterozygosity for the 4 mutations, which were present on a common haplotype, was found in 5% of Amish control alleles, indicating a founder effect. Xin and Wang (2011) noted that N51S occurred at a conserved residue and may also affect the protein. No functional studies were performed, and it was unclear how each individual mutation affected SLC5A1 protein function. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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|
<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Bonner, C., Kerr-Conte, J., Gmyr, V., Queniat, G., Moerman, E., Thevenet, J., Beaucamps, C., Delalleau, N., Popescu, I., Malaisse, W. J., Sener, A., Deprez, B., Abderrahmani, A., Staels, B., Pattou, F.
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<strong>Inhibition of the glucose transporter SGLT2 with dapagliflozin in pancreatic alpha cells triggers glucagon secretion.</strong>
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Nature Med. 21: 512-517, 2015.
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Hediger, M. A., Budarf, M. L., Emanuel, B. S., Mohandas, T. K., Wright, E. M.
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<strong>Assignment of the human intestinal Na+/glucose cotransporter gene (SGLT1) to the q11.2-qter region of chromosome 22.</strong>
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Hediger, M. A., Coady, M. J., Ikeda, T. S., Wright, E. M.
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<strong>Expression cloning and cDNA sequencing of the Na+/glucose co-transporter.</strong>
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Nature 330: 379-381, 1987.
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Hediger, M. A., Coady, M. J., Mohandas, T., Shapiro, H. J., Wright, E. M.
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<strong>The human Na+/glucose cotransporter gene is located on chromosome 22. (Abstract)</strong>
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FASEB J. 2: A1021, 1988.
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Hediger, M. A., Mendlein, J., Lee, H.-S., Wright, E. M.
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Hediger, M. A., Turk, E., Wright, E. M.
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Proc. Nat. Acad. Sci. 86: 5748-5752, 1989.
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Jung, H.
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<strong>The sodium/substrate symporter family: structural and functional features.</strong>
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FEBS Lett. 529: 73-77, 2002.
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[PubMed: 12354616]
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Margolskee, R. F., Dyer, J., Kokrashvili, Z., Salmon, K. S. H., Ilegems, E., Daly, K., Maillet, E. L., Ninomiya, Y., Mosinger, B., Shirazi-Beechey, S. P.
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<strong>T1R3 and gustducin in gut sense sugars to regulate expression of Na(+)-glucose cotransporter 1.</strong>
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Proc. Nat. Acad. Sci. 104: 15075-15080, 2007.
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Martin, M. G., Turk, E., Kerner, C., Zabel, B., Wirth, S., Wright, E. M.
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<strong>Prenatal identification of a heterozygous status in two fetuses at risk for glucose-galactose malabsorption.</strong>
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[PubMed: 8844006]
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[Full Text: https://doi.org/10.1002/(SICI)1097-0223(199605)16:5<458::AID-PD873>3.0.CO;2-U]
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Martin, M. G., Turk, E., Lostao, M. P., Kerner, C., Wright, E. M.
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<strong>Defects in Na(+)/glucose cotransporter (SGLT1) trafficking and function cause glucose-galactose malabsorption.</strong>
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Nature Genet. 12: 216-220, 1996.
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[PubMed: 8563765]
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<p class="mim-text-font">
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Mueckler, M., Caruso, C., Baldwin, S. A., Panico, M., Blench, I., Morris, H. R., Allard, W. J., Lienhard, G. E., Lodish, H. F.
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<strong>Sequence and structure of a human glucose transporter.</strong>
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Science 229: 941-945, 1985.
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Pajor, A., Wright, E. M.
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<strong>Cloning and functional expression of a mammalian Na+/nucleoside cotransporter: a member of the SGLT family.</strong>
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J. Biol. Chem. 267: 3557-3560, 1992.
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Turk, E., Klisak, I., Bacallao, R., Sparkes, R. S., Wright, E. M.
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<strong>Assignment of the human Na(+)/glucose cotransporter gene SGLT1 to chromosome 22q13.1.</strong>
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Genomics 17: 752-754, 1993.
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Turk, E., Martin, M. G., Wright, E. M.
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<strong>Structure of the human Na+/glucose cotransporter gene SGLT1.</strong>
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J. Biol. Chem. 269: 15204-15209, 1994.
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[PubMed: 8195156]
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<p class="mim-text-font">
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Turk, E, Wright, E. M.
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J. Membr. Biol. 159: 1-20, 1997.
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[PubMed: 9309206]
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<p class="mim-text-font">
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Turk, E., Zabel, B., Mundlos, S., Dyer, J., Wright, E. M.
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<strong>Glucose/galactose malabsorption caused by a defect in the Na(+)/glucose cotransporter.</strong>
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<p class="mim-text-font">
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Wright, E. M., Loo, D. D. F., Panayotova-Heiermann, M., Lostao, M. P., Hirayama, B. H., Mackenzie, B., Boorer, K., Zampighi, G.
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<p class="mim-text-font">
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Wright, E. M., Turk, E., Zabel, B., Mundlos, S., Dyer, J.
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J. Clin. Invest. 88: 1435-1440, 1991.
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[PubMed: 1939637]
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[Full Text: https://doi.org/10.1172/JCI115451]
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</p>
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Xin, B., Wang, H.
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<strong>Multiple sequence variations in SLC5A1 gene are associated with glucose-galactose malabsorption in a large cohort of Old Order Amish.</strong>
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Clin. Genet. 79: 86-91, 2011.
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[PubMed: 20486940]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2010.01440.x]
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Bao Lige - updated : 10/16/2019<br>Marla J. F. O'Neill - updated : 11/12/2015<br>Cassandra L. Kniffin - updated : 8/6/2013<br>Marla J. F. O'Neill - updated : 12/19/2008<br>Cassandra L. Kniffin - reorganized : 4/15/2002<br>Wilson H. Y. Lo - updated : 2/18/1997
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Victor A. McKusick : 6/29/1988
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