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<title>
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Entry
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- *138160 - SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 2; SLC2A2
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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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<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
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<div class="form-group">
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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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<div class="input-group-btn">
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<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
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<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
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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">*138160</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>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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</li>
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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>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li 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/138160">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=ENSG00000163581;t=ENST00000314251" 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=6514" 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=138160" 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=ENSG00000163581;t=ENST00000314251" 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_000340,NM_001278658,NM_001278659,XM_011513087,XM_047448761" 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_000340" 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=138160" 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=00685&isoform_id=00685_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/SLC2A2" 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/121756,307125,4557851,37748637,119598904,119598905,119598906,158255128,158258919,189069351,221042212,298549371,298555382,522020364,522020366,767927416,2217345616,2462592065,2462592067" 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/P11168" 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=6514" 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=ENSG00000163581;t=ENST00000314251" 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=SLC2A2" 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=SLC2A2" 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+6514" 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/SLC2A2" 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:6514" 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/6514" 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=chr3&hgg_gene=ENST00000314251.8&hgg_start=170996347&hgg_end=171026720&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=138160[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=138160[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/ENSG00000163581" 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=SLC2A2" 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=SLC2A2" 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=SLC2A2" 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=SLC2A2&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/PA35876" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:11006" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0028563.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1095438" 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/SLC2A2#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:1095438" 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/6514/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/OMIA000366/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=6514" 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="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00018779;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00018779 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00019207;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00019207 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00019979;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00019979 </a></div>
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</div>
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<div><a href="https://zfin.org/ZDB-GENE-030131-1213" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6514" 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=SLC2A2&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> 61598006, 62332007<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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138160
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 2; SLC2A2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
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GLUCOSE TRANSPORTER 2; GLUT2<br />
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GLUCOSE TRANSPORTER, LIVER/ISLET
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=SLC2A2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SLC2A2</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: <a href="/geneMap/3/862?start=-3&limit=10&highlight=862">3q26.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr3:170996347-171026720&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'})">3:170,996,347-171,026,720</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
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Phenotype <br /> MIM number
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{Diabetes mellitus, noninsulin-dependent}
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<a href="/entry/125853"> 125853 </a>
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<a href="/entry/227810"> 227810 </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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PheneGene Graphics <span class="caret"></span>
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<li><a href="/graph/linear/138160" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/138160" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<p><a href="#8" class="mim-tip-reference" title="Fukumoto, H., Seino, S., Imura, H., Seino, Y., Eddy, R. L., Fukushima, Y., Byers, M. G., Shows, T. B., Bell, G. I. <strong>Sequence, tissue distribution, and chromosomal localization of mRNA encoding a human glucose transporter-like protein.</strong> Proc. Nat. Acad. Sci. 85: 5434-5438, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3399500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3399500</a>] [<a href="https://doi.org/10.1073/pnas.85.15.5434" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3399500">Fukumoto et al. (1988)</a> described cDNA clones encoding a glucose transporter-like protein isolated from adult human liver and kidney cDNA libraries. The predicted protein sequence of the 524-amino acid glucose transporter-like protein has 55.5% identity with the GLUT1 (<a href="/entry/138140">138140</a>) gene product. mRNA transcripts of 2.8, 3.4, and 5.4 kb were identified in human adult liver and, in much smaller quantities, in kidney and small intestine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3399500" 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="#25" class="mim-tip-reference" title="Permutt, M. A., Koranyi, L., Keller, K., Lacy, P. E., Scharp, D. W., Mueckler, M. <strong>Cloning and functional expression of a human pancreatic islet glucose-transporter cDNA.</strong> Proc. Nat. Acad. Sci. 86: 8688-8692, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2479026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2479026</a>] [<a href="https://doi.org/10.1073/pnas.86.22.8688" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2479026">Permutt et al. (1989)</a> described the cloning and functional expression of a glucose transporter cDNA isolated from human pancreatic islets. DNA sequence analysis indicated that the islet transporter is identical to the human liver-type glucose transporter polypeptide. They proposed that these cDNA clones can be used to study regulation of expression of the gene and to assess the role of inherited defects in the gene as the possible basis of inherited susceptibility to noninsulin-dependent diabetes mellitus (NIDDM; <a href="/entry/125853">125853</a>). Because of its role in glucose signaling for beta-cell insulin release, <a href="#25" class="mim-tip-reference" title="Permutt, M. A., Koranyi, L., Keller, K., Lacy, P. E., Scharp, D. W., Mueckler, M. <strong>Cloning and functional expression of a human pancreatic islet glucose-transporter cDNA.</strong> Proc. Nat. Acad. Sci. 86: 8688-8692, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2479026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2479026</a>] [<a href="https://doi.org/10.1073/pnas.86.22.8688" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2479026">Permutt et al. (1989)</a> suggested that GLUT2 could be a candidate for an etiologic role in NIDDM. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2479026" 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="#32" class="mim-tip-reference" title="Takeda, J., Kayano, T., Fukomoto, H., Bell, G. I. <strong>Organization of the human GLUT2 (pancreatic beta-cell and hepatocyte) glucose transporter gene.</strong> Diabetes 42: 773-777, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8482435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8482435</a>] [<a href="https://doi.org/10.2337/diab.42.5.773" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8482435">Takeda et al. (1993)</a> described the GLUT2 gene structure as consisting of 11 exons and 10 introns spanning approximately 30 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8482435" 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>Mapping</strong>
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<p><a href="#8" class="mim-tip-reference" title="Fukumoto, H., Seino, S., Imura, H., Seino, Y., Eddy, R. L., Fukushima, Y., Byers, M. G., Shows, T. B., Bell, G. I. <strong>Sequence, tissue distribution, and chromosomal localization of mRNA encoding a human glucose transporter-like protein.</strong> Proc. Nat. Acad. Sci. 85: 5434-5438, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3399500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3399500</a>] [<a href="https://doi.org/10.1073/pnas.85.15.5434" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3399500">Fukumoto et al. (1988)</a> localized the gene, designated GLUT2, to human chromosome 3q26.1-q26.3 by somatic cell hybridization and in situ hybridization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3399500" 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="#17" class="mim-tip-reference" title="Matsutani, A., Hing, A., Steinbrueck, T., Janssen, R., Weber, J., Permutt, M. A., Donis-Keller, H. <strong>Mapping the human liver/islet glucose transporter (GLUT2) gene within a genetic linkage map of chromosome 3q using a (CA)n dinucleotide repeat polymorphism and characterization of the polymorphism in three racial groups.</strong> Genomics 13: 495-501, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1639377/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1639377</a>] [<a href="https://doi.org/10.1016/0888-7543(92)90116-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1639377">Matsutani et al. (1992)</a> used a (CA)n dinucleotide repeat polymorphism adjacent to the 3-prime end of exon 4a for linkage studies and positioned the GLUT2 gene between markers D3S26 and D3S43 on 3q. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1639377" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By immunocytochemical techniques, <a href="#24" class="mim-tip-reference" title="Orci, L., Thorens, B., Ravazzola, M., Lodish, H. F. <strong>Localization of the pancreatic beta cell glucose transporter to specific plasma membrane domains.</strong> Science 245: 295-297, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2665080/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2665080</a>] [<a href="https://doi.org/10.1126/science.2665080" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2665080">Orci et al. (1989)</a> showed that the 'liver-type' glucose transporter is present in the insulin-producing beta cells of rat pancreatic islets but not in other islet endocrine cells. Furthermore, they showed that it is restricted to certain domains of the plasma membrane, its density being 6-fold higher in microvilli facing adjacent endocrine cells than in the flat regions of the plasma membrane. The findings suggested a role for this glucose transporter in glucose sensing by beta cells and provided evidence that these cells are polarized. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2665080" 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="#34" class="mim-tip-reference" title="Thaiss, C. A., Levy, M., Grosheva, I., Zheng, D., Soffer, E., Blacher, E., Braverman, S., Tengeler, A. C., Barak, O., Elazar, M., Ben-Zeev, R., Lehavi-Regev, D., and 11 others. <strong>Hyperglycemia drives intestinal barrier dysfunction and risk for enteric infection.</strong> Science 359: 1376-1383, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29519916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29519916</a>] [<a href="https://doi.org/10.1126/science.aar3318" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29519916">Thaiss et al. (2018)</a> showed in mouse models of obesity and diabetes that hyperglycemia drives intestinal barrier permeability, through GLUT2-dependent transcriptional reprogramming of intestinal epithelial cells and alteration of tight and adherence junction integrity. Consequently, hyperglycemia-mediated barrier disruption leads to systemic influx of microbial products and enhanced dissemination of enteric infection. Treatment of hyperglycemia, intestinal epithelial-specific GLUT2 deletion, or inhibition of glucose metabolism restored barrier function and bacterial containment. In humans, systemic influx of intestinal microbiome products correlated with individualized glycemic control, indicated by glycated hemoglobin levels. <a href="#34" class="mim-tip-reference" title="Thaiss, C. A., Levy, M., Grosheva, I., Zheng, D., Soffer, E., Blacher, E., Braverman, S., Tengeler, A. C., Barak, O., Elazar, M., Ben-Zeev, R., Lehavi-Regev, D., and 11 others. <strong>Hyperglycemia drives intestinal barrier dysfunction and risk for enteric infection.</strong> Science 359: 1376-1383, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29519916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29519916</a>] [<a href="https://doi.org/10.1126/science.aar3318" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29519916">Thaiss et al. (2018)</a> concluded that their results mechanistically link hyperglycemia and intestinal barrier function with systemic infectious and inflammatory consequences of obesity and diabetes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29519916" 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><strong><em>Type 2 Diabetes Mellitus</em></strong></p><p>
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Using GLUT2 and GLUT4 (<a href="/entry/138190">138190</a>) cDNA probes, <a href="#18" class="mim-tip-reference" title="Matsutani, A., Koranyi, L., Cox, N., Permutt, M. A. <strong>Polymorphisms of GLUT2 and GLUT4 genes: use in evaluation of genetic susceptibility to NIDDM in Blacks.</strong> Diabetes 39: 1534-1542, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1978828/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1978828</a>] [<a href="https://doi.org/10.2337/diab.39.12.1534" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1978828">Matsutani et al. (1990)</a> evaluated DNA polymorphisms in genomic DNA from American blacks with type 2 diabetes mellitus (T2D; <a href="/entry/601283">601283</a>). The allelic, genotypic, and haplotypic frequencies of the DNA polymorphisms at these loci did not differ from the frequencies in nondiabetic subjects. Because no associations with T2D were found, <a href="#18" class="mim-tip-reference" title="Matsutani, A., Koranyi, L., Cox, N., Permutt, M. A. <strong>Polymorphisms of GLUT2 and GLUT4 genes: use in evaluation of genetic susceptibility to NIDDM in Blacks.</strong> Diabetes 39: 1534-1542, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1978828/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1978828</a>] [<a href="https://doi.org/10.2337/diab.39.12.1534" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1978828">Matsutani et al. (1990)</a> considered it unlikely that mutations at these loci contribute in a major way to genetic susceptibility to T2D in this population. Using the affected-pedigree-members statistical method, <a href="#3" class="mim-tip-reference" title="Baroni, M. G., Alcolado, J. C., Pozzilli, P., Cavallo, M. G., Li, S. R., Galton, D. J. <strong>Polymorphisms at the GLUT2 (beta-cell/liver) glucose transporter gene and non-insulin-dependent diabetes mellitus (NIDDM): analysis in affected pedigree members.</strong> Clin. Genet. 41: 229-234, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1351429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1351429</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1992.tb03671.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1351429">Baroni et al. (1992)</a> could demonstrate no association between the TaqI RFLPs at the GLUT2 locus and T2D. No departure from independent segregation was observed. However, <a href="#21" class="mim-tip-reference" title="Mueckler, M., Kruse, M., Strube, M., Riggs, A. C., Chiu, K. C., Permutt, M. A. <strong>A mutation in the Glut2 glucose transporter gene of a diabetic patient abolishes transport activity.</strong> J. Biol. Chem. 269: 17765-17767, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8027028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8027028</a>]" pmid="8027028">Mueckler et al. (1994)</a> reported a mutation in the GLUT2 gene that abolished transport activity in a patient with type 2 diabetes mellitus; see <a href="#0001">138160.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1351429+8027028+1978828" 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 the Danish population, <a href="#19" class="mim-tip-reference" title="Moller, A. M., Jensen, N. M., Pildal, J., Drivsholm, T., Borch-Johnsen, K., Urhammer, S. A., Hansen, T., Pedersen, O. <strong>Studies of genetic variability of the glucose transporter 2 promoter in patients with type 2 diabetes mellitus.</strong> J. Clin. Endocr. Metab. 86: 2181-2186, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11344224/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11344224</a>] [<a href="https://doi.org/10.1210/jcem.86.5.7499" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11344224">Moller et al. (2001)</a> found no evidence supporting the hypothesis that genetic variability in the minimal promoter region of the GLUT2 gene is associated with type 2 diabetes or prediabetic phenotypes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11344224" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Fanconi-Bickel Syndrome</em></strong></p><p>
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<a href="#29" class="mim-tip-reference" title="Santer, R., Schneppenheim, R., Dombrowski, A., Gotze, H., Steinmann, B., Schaub, J. <strong>Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome.</strong> Nature Genet. 17: 324-326, 1997. Note: Erratum: Nature Genet. 18: 298 only, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9354798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9354798</a>] [<a href="https://doi.org/10.1038/ng1197-324" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9354798">Santer et al. (1997)</a> stated that Fanconi-Bickel syndrome (FBS; <a href="/entry/227810">227810</a>) is the first genetic disorder known to be caused by a detectable genetic defect of one of the facilitative glucose transporters. <a href="#29" class="mim-tip-reference" title="Santer, R., Schneppenheim, R., Dombrowski, A., Gotze, H., Steinmann, B., Schaub, J. <strong>Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome.</strong> Nature Genet. 17: 324-326, 1997. Note: Erratum: Nature Genet. 18: 298 only, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9354798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9354798</a>] [<a href="https://doi.org/10.1038/ng1197-324" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9354798">Santer et al. (1997)</a> reported 3 different homozygous GLUT2 mutations in 4 patients with FBS from 3 unrelated families; all parents tested were heterozygous for the respective mutation. Since the derived truncated translation products (<a href="#0002">138160.0002</a>; <a href="#0003">138160.0003</a>; <a href="#0004">138160.0004</a>) cannot be expected to have functional monosaccharide transport activity, <a href="#29" class="mim-tip-reference" title="Santer, R., Schneppenheim, R., Dombrowski, A., Gotze, H., Steinmann, B., Schaub, J. <strong>Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome.</strong> Nature Genet. 17: 324-326, 1997. Note: Erratum: Nature Genet. 18: 298 only, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9354798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9354798</a>] [<a href="https://doi.org/10.1038/ng1197-324" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9354798">Santer et al. (1997)</a> considered it likely that mutations in GLUT2 are the cause of Fanconi-Bickel syndrome. Several lines of evidence suggest that even if truncating mutations would not impair protein localization within the cell membrane, they would result in altered monosaccharide transport. First, the affected codon R365 is part of a highly conserved intracellular (R)XGRR motif common not only to the different facilitative glucose transporters but also to the sugar transport superfamily (<a href="#16" class="mim-tip-reference" title="Maiden, M. C. J., Davis, E. O., Baldwin, S. A., Moore, D. C. M., Henderson, P. J. F. <strong>Mammalian and bacterial sugar transport proteins are homologous.</strong> Nature 325: 641-643, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3543693/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3543693</a>] [<a href="https://doi.org/10.1038/325641a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3543693">Maiden et al., 1987</a>). Second, the distal domain of glucose transport proteins, which in truncating mutations would be lost, has been shown to be essential for monosaccharide transport. According to the alternating conformation model of facilitative glucose transport, translocation of glucose across the cell membrane is thought to occur by a conformational change of the transporter between an inward-facing and an outward-facing substrate binding site. <a href="#12" class="mim-tip-reference" title="Holman, G. D. <strong>Side-specific photolabelling of the hexose transporter.</strong> Biochem. Soc. Trans. 17: 438-440, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2666194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2666194</a>] [<a href="https://doi.org/10.1042/bst0170438" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2666194">Holman (1989)</a> proposed that these inner and outer glucose-binding sites are located in transmembrane segments 9, 10, and 11 of the GLUT protein. In vitro expression of GLUT mutants in different cell types have confirmed the importance of these segments. Missense mutations changing trp412 or asn415 of GLUT1, noted by <a href="#29" class="mim-tip-reference" title="Santer, R., Schneppenheim, R., Dombrowski, A., Gotze, H., Steinmann, B., Schaub, J. <strong>Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome.</strong> Nature Genet. 17: 324-326, 1997. Note: Erratum: Nature Genet. 18: 298 only, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9354798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9354798</a>] [<a href="https://doi.org/10.1038/ng1197-324" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9354798">Santer et al. (1997)</a> as corresponding to trp444 and asn449 of the GLUT2 protein, respectively, severely impair glucose transport by modulating the inward-facing binding site (<a href="#14" class="mim-tip-reference" title="Katagiri, H., Asano, T., Shibasaki, Y., Lin, J.-L., Tsukuda, K., Ishihara, H., Akanuma, Y., Takaku, F., Oka, Y. <strong>Substitution of leucine for tryptophan 412 does not abolish cytochalasin B labelling but markedly decreases the intrinsic activity of GLUT1 glucose transporter.</strong> J. Biol. Chem. 266: 7769-7773, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2019601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2019601</a>]" pmid="2019601">Katagiri et al., 1991</a>; <a href="#9" class="mim-tip-reference" title="Garcia, J. C., Strube, M., Leingang, K., Keller, K., Mueckler, M. <strong>Amino acid substitutions at tryptophan 388 and tryptophan 412 of the HepG2 (Glut1) glucose transporter inhibit transport activity and targeting to the plasma membrane in Xenopus oocytes.</strong> J. Biol. Chem. 267: 7770-7776, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1560011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1560011</a>]" pmid="1560011">Garcia et al., 1992</a>; <a href="#13" class="mim-tip-reference" title="Ishihara, H., Asano, T., Katagiri, H., Lin, J.-L., Tsukuda, K., Shibasaki, Y., Yazaki, Y., Oka, Y. <strong>The glucose transport activity of GLUT1 is markedly decreased by substitution of a single amino acid with a different charge at residue 415.</strong> Biochem. Biophys. Res. Commun. 176: 922-930, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2025301/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2025301</a>] [<a href="https://doi.org/10.1016/s0006-291x(05)80274-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2025301">Ishihara et al., 1991</a>). <a href="#23" class="mim-tip-reference" title="Oka, Y., Asano, T., Shibaskai, Y., Lin, J.-L., Tsukuda, K., Katagiri, H., Akanuma, Y., Takaku, F. <strong>C-terminal truncated glucose transporter is locked into an inward-facing form without transport activity.</strong> Nature 345: 550-553, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2348864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2348864</a>] [<a href="https://doi.org/10.1038/345550a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2348864">Oka et al. (1990)</a> demonstrated that a deletion mutant of GLUT1 lacking most of the carboxy-terminal intracellular domain had lost the ability to alternate its conformation and thus was functionally inactive. Third, <a href="#35" class="mim-tip-reference" title="Thorens, B., Deriaz, N., Bosco, D., DeVos, A., Pipeleers, D., Schuit, F., Meda, P., Porret, A. <strong>Protein kinase A-dependent phosphorylation of GLUT2 in pancreatic beta cells.</strong> J. Biol. Chem. 271: 8075-8081, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8626492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8626492</a>] [<a href="https://doi.org/10.1074/jbc.271.14.8075" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8626492">Thorens et al. (1996)</a> detected carboxy-terminal phosphorylation sites for a cAMP-dependent protein kinase, further emphasizing the role of the carboxy-terminal domain of the GLUT2 protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3543693+2348864+2019601+1560011+2025301+2666194+8626492+9354798" 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 Japanese patient with Fanconi-Bickel syndrome, <a href="#1" class="mim-tip-reference" title="Akagi, M., Inui, K., Nakajima, S., Shima, M., Nishigaki, T., Muramatsu, T., Kokubu, C., Tsukamoto, H., Sakai, N., Okada, S. <strong>Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome.</strong> J. Hum. Genet. 45: 60-62, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10697967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10697967</a>] [<a href="https://doi.org/10.1007/s100380050013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10697967">Akagi et al. (2000)</a> found a homozygous nonsense mutation, trp420 to ter (<a href="#0006">138160.0006</a>), in the SLC2A2 gene. In a second patient from a nonrelated Japanese family, no mutation was found in the entire protein coding region of the SLC2A2 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10697967" 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="#28" class="mim-tip-reference" title="Santer, R., Groth, S., Kinner, M., Dombrowski, A., Berry, G. T., Brodehl, J., Leonard, J. V., Moses, S., Norgren, S., Skovby, F., Schneppenheim, R., Steinmann, B., Schaub, J. <strong>The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.</strong> Hum. Genet. 110: 21-29, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11810292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11810292</a>] [<a href="https://doi.org/10.1007/s00439-001-0638-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11810292">Santer et al. (2002)</a> stated that molecular genetic analysis had been performed in more than 50% of the 109 FBS cases from 88 families that they had been able to locate worldwide since the original report by <a href="#7" class="mim-tip-reference" title="Fanconi, G., Bickel, H. <strong>Die chronische Aminoazidurie (Aminoaeurendiabetes oder nephrotisch-glukosurischer Zwergwuchs) bei der Glykogenose und der Cystinkrankheit.</strong> Helv. Paediat. Acta 4: 359-396, 1949.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15397919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15397919</a>]" pmid="15397919">Fanconi and Bickel (1949)</a>. They reported a total of 23 novel mutations of the SLC2A2 gene in 49 patients with a clinical diagnosis of FBS. In the 49 patients, 33 different SLC2A2 mutations (9 missense, 7 nonsense, 10 frameshift, 7 splice site) were detected. Mutations of SLC2A2 were detected in historic FBS patients (<a href="#0004">138160.0004</a>) in whom some of the characteristic clinical features and the effect of therapy were described for the first time. Mutations were also found in patients with atypical clinical signs such as intestinal malabsorption, failure to thrive, absence of hepatomegaly, or renal hyperfiltration. No single prevalent SLC2A2 mutation was responsible for a significant number of cases. In a high proportion (74%) of FBS patients, the mutation was homozygous, suggesting that the prevalence of SLC2A2 mutations is low in most populations. No mutation hotspots within SLC2A2 or even within homologous sequences among the genes for facilitative glucose transporters were detected. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15397919+11810292" 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="#26" class="mim-tip-reference" title="Sakamoto, O., Ogawa, E., Ohura, T., Igarashi, Y., Matsubara, Y., Narisawa, K., Iinuma, K. <strong>Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome.</strong> Pediat. Res. 48: 586-589, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11044475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11044475</a>] [<a href="https://doi.org/10.1203/00006450-200011000-00005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11044475">Sakamoto et al. (2000)</a> studied 3 Japanese patients with Fanconi-Bickel syndrome and found 4 novel mutations in SLC2A2, including a splice site mutation, a nonsense mutation, and 2 missense mutations (<a href="#0012">138160.0012</a>-<a href="#0015">138160.0015</a>). Several family members who had a heterozygous missense mutation were shown to have glucosuria, but a family member heterozygous for the nonsense mutation did not. <a href="#26" class="mim-tip-reference" title="Sakamoto, O., Ogawa, E., Ohura, T., Igarashi, Y., Matsubara, Y., Narisawa, K., Iinuma, K. <strong>Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome.</strong> Pediat. Res. 48: 586-589, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11044475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11044475</a>] [<a href="https://doi.org/10.1203/00006450-200011000-00005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11044475">Sakamoto et al. (2000)</a> speculated that mutant SLC2A2 proteins may have a dominant-negative effect and that heterozygosity for a nonsense mutation may not lead to glucosuria because of selective and efficient degradation of the nonsense mRNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11044475" 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>GLUT2 is a low-affinity transporter present in the plasma membrane of pancreatic beta cells, hepatocytes, and intestine and kidney absorptive epithelial cells of mice. A role for GLUT2 in control of glucose-stimulated insulin secretion by pancreatic beta cells has been suggested. <a href="#11" class="mim-tip-reference" title="Guillam, M.-T., Hummler, E., Schaerer, E., Wu, J.-Y., Birnbaum, M. J., Beermann, F., Schmidt, A., Deriaz, N., Thorens, B. <strong>Early diabetes and abnormal postnatal pancreatic islet development in mice lacking Glut-2.</strong> Nature Genet. 17: 327-330, 1997. Note: Erratum: Nature Genet. 17: 503 only, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9354799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9354799</a>] [<a href="https://doi.org/10.1038/ng1197-327" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9354799">Guillam et al. (1997)</a> showed that homozygous mice deficient in GLUT2 are hyperglycemic and relatively hypoinsulinemic and have elevated plasma levels of glucagon, free fatty acids, and beta-hydroxybutyrate. In vivo, their glucose tolerance was abnormal. In vitro, beta-cells displayed loss of control of insulin gene expression by glucose and impaired glucose-stimulated insulin secretion. This was accompanied by alterations in the postnatal development of pancreatic islets, evidenced by an inversion of the alpha- to beta-cell ratio. GLUT2 was thus demonstrated to be required to maintain normal glucose homeostasis and normal function and development of the endocrine pancreas. Its absence led to symptoms characteristic of noninsulin-dependent diabetes mellitus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9354799" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Efrat, S. <strong>Making sense of glucose sensing.</strong> Nature Genet. 17: 249-250, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9354775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9354775</a>] [<a href="https://doi.org/10.1038/ng1197-249" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9354775">Efrat (1997)</a> placed the work of <a href="#11" class="mim-tip-reference" title="Guillam, M.-T., Hummler, E., Schaerer, E., Wu, J.-Y., Birnbaum, M. J., Beermann, F., Schmidt, A., Deriaz, N., Thorens, B. <strong>Early diabetes and abnormal postnatal pancreatic islet development in mice lacking Glut-2.</strong> Nature Genet. 17: 327-330, 1997. Note: Erratum: Nature Genet. 17: 503 only, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9354799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9354799</a>] [<a href="https://doi.org/10.1038/ng1197-327" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9354799">Guillam et al. (1997)</a> in perspective. Of the 6 known glucose transporters, each with its specialized function and tissue distribution, beta cells (as well as hepatocytes and epithelial cells of the kidney and intestine) express the type with the lowest affinity and the highest capacity for glucose, GLUT2. This allows beta cells to take up glucose effectively only in times of plenty, when insulin release is needed, and renders GLUT2 a prime suspect as the glucose sensor. <a href="#6" class="mim-tip-reference" title="Efrat, S. <strong>Making sense of glucose sensing.</strong> Nature Genet. 17: 249-250, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9354775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9354775</a>] [<a href="https://doi.org/10.1038/ng1197-249" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9354775">Efrat (1997)</a> concluded, however, that the extreme circumstance of total absence of GLUT2 in the knockout animal probably should not be taken as reinstating GLUT2 as a contender for the title of the beta-cell glucose sensor. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9354799+9354775" 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>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=138160[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121909741 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909741;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/rs121909741?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=rs121909741" 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=rs121909741" 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="#33" class="mim-tip-reference" title="Tanizawa, Y., Riggs, A. C., Chiu, K. C., Janssen, R. C., Bell, D. S. H., Go, R. P. C., Roseman, J. M., Acton, R. T., Permutt, M. A. <strong>Variability of the pancreatic islet beta cell/liver (GLUT 2) glucose transporter gene in NIDDM patients.</strong> Diabetologia 37: 420-427, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8063045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8063045</a>] [<a href="https://doi.org/10.1007/BF00408481" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8063045">Tanizawa et al. (1994)</a> reported 2 amino acid substitutions in the human GLUT2 gene: a thr110-to-ile substitution was present at equal frequency in diabetic and control populations, whereas a val197-to-ile substitution was discovered in a single allele of a patient with noninsulin-dependent diabetes (<a href="/entry/125853">125853</a>). <a href="#21" class="mim-tip-reference" title="Mueckler, M., Kruse, M., Strube, M., Riggs, A. C., Chiu, K. C., Permutt, M. A. <strong>A mutation in the Glut2 glucose transporter gene of a diabetic patient abolishes transport activity.</strong> J. Biol. Chem. 269: 17765-17767, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8027028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8027028</a>]" pmid="8027028">Mueckler et al. (1994)</a> tested the effect of these amino acid changes on glucose transport activity by expression of the mutant proteins in Xenopus oocytes. The polymorphism at threonine-110 had no effect on the expression of GLUT protein or the uptake of 2-deoxyglucose. On the other hand, the highly conserved val197-to-ile amino acid change abolished transport activity of the GLUT2 transporter expressed in Xenopus oocytes. This was the first known dysfunctional mutation in a human facilitative glucose transporter protein. The presence of the mutation in a diabetic patient suggested that defects in GLUT2 expression may be causally involved in the pathogenesis of noninsulin-dependent diabetes mellitus. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8063045+8027028" 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="#28" class="mim-tip-reference" title="Santer, R., Groth, S., Kinner, M., Dombrowski, A., Berry, G. T., Brodehl, J., Leonard, J. V., Moses, S., Norgren, S., Skovby, F., Schneppenheim, R., Steinmann, B., Schaub, J. <strong>The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.</strong> Hum. Genet. 110: 21-29, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11810292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11810292</a>] [<a href="https://doi.org/10.1007/s00439-001-0638-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11810292">Santer et al. (2002)</a> stated that the patient reported by <a href="#33" class="mim-tip-reference" title="Tanizawa, Y., Riggs, A. C., Chiu, K. C., Janssen, R. C., Bell, D. S. H., Go, R. P. C., Roseman, J. M., Acton, R. T., Permutt, M. A. <strong>Variability of the pancreatic islet beta cell/liver (GLUT 2) glucose transporter gene in NIDDM patients.</strong> Diabetologia 37: 420-427, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8063045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8063045</a>] [<a href="https://doi.org/10.1007/BF00408481" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8063045">Tanizawa et al. (1994)</a> was a woman of African American descent with gestational diabetes mellitus and that the V197I mutation was heterozygous. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8063045+11810292" 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=RCV000017471" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017471" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017471</a>
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<p><a href="#29" class="mim-tip-reference" title="Santer, R., Schneppenheim, R., Dombrowski, A., Gotze, H., Steinmann, B., Schaub, J. <strong>Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome.</strong> Nature Genet. 17: 324-326, 1997. Note: Erratum: Nature Genet. 18: 298 only, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9354798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9354798</a>] [<a href="https://doi.org/10.1038/ng1197-324" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9354798">Santer et al. (1997)</a> reported that the 2 Turkish sibs with Fanconi-Bickel syndrome (FBS; <a href="/entry/227810">227810</a>) described by <a href="#22" class="mim-tip-reference" title="Muller, D., Santer, R., Krawinkel, M., Christiansen, B., Schaub, J. <strong>Fanconi-Bickel syndrome presenting in neonatal screening for galactosemia.</strong> J. Inherit. Metab. Dis. 20: 607-608, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9266402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9266402</a>] [<a href="https://doi.org/10.1023/a:1005375629820" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9266402">Muller et al. (1997)</a> were homozygous for a single-base deletion in a stretch of 4 thymine residues (positions 446 to 449) in exon 3. This mutation caused a frameshift that predicted an aberrant transcription product with a premature TGA stop at codon 74 in the same exon, resulting in a truncated protein of 45 regular and 28 aberrant amino acids. If translated and transferred to the cell membrane, this truncated GLUT2 protein would have only 1 of 12 transmembrane segments, too small to form the hydrophilic tunnel for monosaccharide transport (<a href="#20" 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>). Both consanguineous parents as well as one sister were heterozygous for this mutation. <a href="#30" class="mim-tip-reference" title="Santer, R., Schneppenheim, R., Dombrowski, A., Gotze, H., Steinmann, B., Schaub, J. <strong>Fanconi-Bickel syndrome--a congenital defect of the liver-type facilitative glucose transporter.</strong> J. Inherit. Metab. Dis. 21: 191-194, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9686354/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9686354</a>] [<a href="https://doi.org/10.1023/a:1005379013406" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9686354">Santer et al. (1998)</a> stated that this mutation had been found in 4 patients, including the original patient described by <a href="#7" class="mim-tip-reference" title="Fanconi, G., Bickel, H. <strong>Die chronische Aminoazidurie (Aminoaeurendiabetes oder nephrotisch-glukosurischer Zwergwuchs) bei der Glykogenose und der Cystinkrankheit.</strong> Helv. Paediat. Acta 4: 359-396, 1949.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15397919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15397919</a>]" pmid="15397919">Fanconi and Bickel (1949)</a>, from 3 families. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15397919+3839598+9266402+9686354+9354798" 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> rs121909742 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909742;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/rs121909742?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=rs121909742" 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=rs121909742" 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="#29" class="mim-tip-reference" title="Santer, R., Schneppenheim, R., Dombrowski, A., Gotze, H., Steinmann, B., Schaub, J. <strong>Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome.</strong> Nature Genet. 17: 324-326, 1997. Note: Erratum: Nature Genet. 18: 298 only, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9354798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9354798</a>] [<a href="https://doi.org/10.1038/ng1197-324" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9354798">Santer et al. (1997)</a> described a Turkish boy with Fanconi-Bickel syndrome (FBS; <a href="/entry/227810">227810</a>) who was homozygous for a C-to-T transition (CGA to TGA) at nucleotide 1405 in exon 8, causing a nonsense arg365-to-ter mutation (R365X); the mother was heterozygous for the C1405T mutation, as expected. The father was not available for analysis. The mutation predicts a truncated GLUT2 protein with only 8 of the 12 membrane-spanning segments. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9354798" 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="#28" class="mim-tip-reference" title="Santer, R., Groth, S., Kinner, M., Dombrowski, A., Berry, G. T., Brodehl, J., Leonard, J. V., Moses, S., Norgren, S., Skovby, F., Schneppenheim, R., Steinmann, B., Schaub, J. <strong>The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.</strong> Hum. Genet. 110: 21-29, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11810292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11810292</a>] [<a href="https://doi.org/10.1007/s00439-001-0638-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11810292">Santer et al. (2002)</a> stated that they had found the R365X mutation, which involves a CpG dinucleotide, in 4 unrelated families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11810292" 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> rs121909743 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909743;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/rs121909743?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=rs121909743" 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=rs121909743" 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=RCV000017473 OR RCV002496390" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017473, RCV002496390" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017473...</a>
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<p>In a patient with Fanconi-Bickel syndrome (FBS; <a href="/entry/227810">227810</a>) originally reported by <a href="#7" class="mim-tip-reference" title="Fanconi, G., Bickel, H. <strong>Die chronische Aminoazidurie (Aminoaeurendiabetes oder nephrotisch-glukosurischer Zwergwuchs) bei der Glykogenose und der Cystinkrankheit.</strong> Helv. Paediat. Acta 4: 359-396, 1949.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15397919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15397919</a>]" pmid="15397919">Fanconi and Bickel (1949)</a> and later by <a href="#10" class="mim-tip-reference" title="Gitzelmann, R. <strong>Glukagonprobleme bei den Glykogenspeicherkrankheiten.</strong> Helv. Paediat. Acta 12: 425-479, 1957.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13480676/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13480676</a>]" pmid="13480676">Gitzelmann (1957)</a>, <a href="#29" class="mim-tip-reference" title="Santer, R., Schneppenheim, R., Dombrowski, A., Gotze, H., Steinmann, B., Schaub, J. <strong>Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome.</strong> Nature Genet. 17: 324-326, 1997. Note: Erratum: Nature Genet. 18: 298 only, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9354798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9354798</a>] [<a href="https://doi.org/10.1038/ng1197-324" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9354798">Santer et al. (1997)</a> described a homozygous C-to-T transition (CGA to TGA) at nucleotide 1213 in exon 6, causing a nonsense arg301-to-ter (R301X) mutation. (In an erratum to <a href="#29" class="mim-tip-reference" title="Santer, R., Schneppenheim, R., Dombrowski, A., Gotze, H., Steinmann, B., Schaub, J. <strong>Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome.</strong> Nature Genet. 17: 324-326, 1997. Note: Erratum: Nature Genet. 18: 298 only, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9354798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9354798</a>] [<a href="https://doi.org/10.1038/ng1197-324" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9354798">Santer et al. (1997)</a>, the authors pointed out that the transition as noted in the paper at nucleotide 1251 was incorrect, but that the amino acid mutation was correctly reported as R301X.) This change predicted a truncated GLUT2 protein with only 6 of the 12 membrane-spanning segments. At age 52 years, the patient was 140 cm tall and still lived in a remote valley of the southern Swiss Alps. He showed persistent clinical and chemical features of FBS. His consanguineous parents had died at ages 75 and 73 years; there was no evidence of diabetes mellitus (<a href="#31" class="mim-tip-reference" title="Steinmann, B., Zeller, L. <strong>Personal Communication.</strong> Zurich and Santa Maria Calanca, Switzerland 8/2/1997."None>Steinmann and Zeller, 1997</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9354798+13480676+15397919" 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="#28" class="mim-tip-reference" title="Santer, R., Groth, S., Kinner, M., Dombrowski, A., Berry, G. T., Brodehl, J., Leonard, J. V., Moses, S., Norgren, S., Skovby, F., Schneppenheim, R., Steinmann, B., Schaub, J. <strong>The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.</strong> Hum. Genet. 110: 21-29, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11810292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11810292</a>] [<a href="https://doi.org/10.1007/s00439-001-0638-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11810292">Santer et al. (2002)</a> stated that they had found this mutation, which involves a CpG dinucleotide, in 4 unrelated families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11810292" 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> rs121909744 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909744;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/rs121909744?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=rs121909744" 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=rs121909744" 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=RCV000017475" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017475" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017475</a>
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<p>In 1 large family with a high degree of consanguinity and several affected individuals (both male and female), markedly reduced liver phosphorylase kinase activity was found in association with the characteristic clinical features and laboratory findings of Fanconi-Bickel syndrome (FBS; <a href="/entry/227810">227810</a>) (<a href="#27" class="mim-tip-reference" title="Sanjad, S. A., Kaddoura, R. E., Nazer, H. M., Akhtar, M., Sakati, N. A. <strong>Fanconi's syndrome with hepatorenal glycogenosis associated with phosphorylase b kinase deficiency.</strong> Am. J. Dis. Child. 147: 957-959, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8362811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8362811</a>] [<a href="https://doi.org/10.1001/archpedi.1993.02160330047016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8362811">Sanjad et al., 1993</a>). This suggested that Fanconi-Bickel syndrome is genetically heterogeneous and that there may be another subtype of PHK deficiency (possibly associated with a distinctive genotype) that gives rise to hepatorenal glycogenosis. <a href="#5" class="mim-tip-reference" title="Burwinkel, B., Sanjad, S. A., Al-Sabban, E., Al-Abbad, A., Kilimann, M. W. <strong>A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity.</strong> Hum. Genet. 105: 240-243, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10987651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10987651</a>] [<a href="https://doi.org/10.1007/s004390051095" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10987651">Burwinkel et al. (1999)</a> showed that affected members of this family in fact had a homozygous missense mutation, pro417 to leu, in the GLUT2 gene. The affected proline residue is completely conserved in all mammalian glucose permease isoforms and even in bacterial sugar transporters and is believed to be critical for the passage of glucose through the permease. Homozygosity for this mutation was found in 7 affected individuals from different branches of the same large consanguineous kindred. The low PHK activity was thought to be a secondary phenomenon that contributed to the deposition of glycogen in response to the intracellular glucose retention caused by GLUT2 deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8362811+10987651" 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">rs121909745 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909745;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=rs121909745" 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=rs121909745" 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=RCV000017476" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017476" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017476</a>
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<p>In a Japanese patient with Fanconi-Bickel syndrome (FBS; <a href="/entry/227810">227810</a>), <a href="#1" class="mim-tip-reference" title="Akagi, M., Inui, K., Nakajima, S., Shima, M., Nishigaki, T., Muramatsu, T., Kokubu, C., Tsukamoto, H., Sakai, N., Okada, S. <strong>Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome.</strong> J. Hum. Genet. 45: 60-62, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10697967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10697967</a>] [<a href="https://doi.org/10.1007/s100380050013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10697967">Akagi et al. (2000)</a> found a homozygous G-to-A transition at nucleotide 1159 in exon 9 of the GLUT2 gene resulting in a nonsense mutation, trp420 to ter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10697967" 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">rs1715390589 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1715390589;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=rs1715390589" 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=rs1715390589" 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=RCV000017477" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017477" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017477</a>
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<p>In 2 sibs of English ancestry with Fanconi-Bickel syndrome (FBS; <a href="/entry/227810">227810</a>) described by <a href="#15" class="mim-tip-reference" title="Lee, P. J., Van't Hoff, W. G., Leonard, J. V. <strong>Catch-up growth in Fanconi-Bickel syndrome with uncooked cornstarch.</strong> J. Inherit. Metab. Dis. 18: 153-156, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7564233/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7564233</a>] [<a href="https://doi.org/10.1007/BF00711753" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7564233">Lee et al. (1995)</a>, <a href="#28" class="mim-tip-reference" title="Santer, R., Groth, S., Kinner, M., Dombrowski, A., Berry, G. T., Brodehl, J., Leonard, J. V., Moses, S., Norgren, S., Skovby, F., Schneppenheim, R., Steinmann, B., Schaub, J. <strong>The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.</strong> Hum. Genet. 110: 21-29, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11810292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11810292</a>] [<a href="https://doi.org/10.1007/s00439-001-0638-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11810292">Santer et al. (2002)</a> identified compound heterozygosity for 1363delG and 1405C-T (<a href="#0008">138160.0008</a>) mutations in the SLC2A2 gene. It was in these sibs that <a href="#15" class="mim-tip-reference" title="Lee, P. J., Van't Hoff, W. G., Leonard, J. V. <strong>Catch-up growth in Fanconi-Bickel syndrome with uncooked cornstarch.</strong> J. Inherit. Metab. Dis. 18: 153-156, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7564233/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7564233</a>] [<a href="https://doi.org/10.1007/BF00711753" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7564233">Lee et al. (1995)</a> demonstrated the successful use of cornstarch in the management of this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7564233+11810292" 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=RCV000017472 OR RCV002490379 OR RCV004719651 OR RCV004732549" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017472, RCV002490379, RCV004719651, RCV004732549" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017472...</a>
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<p>For discussion of the 1405C-T mutation in the SLC2A2 gene that was found in compound heterozygous state in 2 sibs with Fanconi-Bickel syndrome (FBS; <a href="/entry/227810">227810</a>) by <a href="#28" class="mim-tip-reference" title="Santer, R., Groth, S., Kinner, M., Dombrowski, A., Berry, G. T., Brodehl, J., Leonard, J. V., Moses, S., Norgren, S., Skovby, F., Schneppenheim, R., Steinmann, B., Schaub, J. <strong>The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.</strong> Hum. Genet. 110: 21-29, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11810292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11810292</a>] [<a href="https://doi.org/10.1007/s00439-001-0638-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11810292">Santer et al. (2002)</a>, see <a href="#0007">138160.0007</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11810292" 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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SLC2A2, 1-BP INS, 793C
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017478" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017478" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017478</a>
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<p>In 2 sibs of Turkish-Assyrian ancestry reported by <a href="#2" class="mim-tip-reference" title="Aperia, A., Bergqvist, G., Linne, T., Zetterstrom, R. <strong>Familial Fanconi syndrome with malabsorption and galactose intolerance, normal kinase and transferase activity: a report on two siblings.</strong> Acta Paediat. Scand. 70: 527-533, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6274135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6274135</a>] [<a href="https://doi.org/10.1111/j.1651-2227.1981.tb05735.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6274135">Aperia et al. (1981)</a>, the presenting sign of Fanconi-Bickel syndrome (FBS; <a href="/entry/227810">227810</a>) in infancy was failure to thrive because of intestinal malabsorption; hepatomegaly was absent. <a href="#28" class="mim-tip-reference" title="Santer, R., Groth, S., Kinner, M., Dombrowski, A., Berry, G. T., Brodehl, J., Leonard, J. V., Moses, S., Norgren, S., Skovby, F., Schneppenheim, R., Steinmann, B., Schaub, J. <strong>The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.</strong> Hum. Genet. 110: 21-29, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11810292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11810292</a>] [<a href="https://doi.org/10.1007/s00439-001-0638-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11810292">Santer et al. (2002)</a> found that these sibs were homozygous for a splice acceptor site 1-bp insertion, 793-4insC. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6274135+11810292" 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> rs780067980 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs780067980;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/rs780067980?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=rs780067980" 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=rs780067980" 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=RCV000017479" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017479" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017479</a>
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<p>In a white American infant with Fanconi-Bickel syndrome (FBS; <a href="/entry/227810">227810</a>) and associated renal hyperfiltration reported by (<a href="#4" class="mim-tip-reference" title="Berry, G. T., Baker, L., Kaplan, F. S., Witzleben, C. L. <strong>Diabetes-like renal glomerular disease in Fanconi-Bickel syndrome.</strong> Pediat. Nephrol. 9: 287-291, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7632512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7632512</a>] [<a href="https://doi.org/10.1007/BF02254185" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7632512">Berry et al., 1995</a>), <a href="#28" class="mim-tip-reference" title="Santer, R., Groth, S., Kinner, M., Dombrowski, A., Berry, G. T., Brodehl, J., Leonard, J. V., Moses, S., Norgren, S., Skovby, F., Schneppenheim, R., Steinmann, B., Schaub, J. <strong>The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.</strong> Hum. Genet. 110: 21-29, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11810292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11810292</a>] [<a href="https://doi.org/10.1007/s00439-001-0638-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11810292">Santer et al. (2002)</a> found compound heterozygosity for 1264G-A and 469C-T (<a href="#0011">138160.0011</a>) mutations in the SLC2A2 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7632512+11810292" 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> rs771477447 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs771477447;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/rs771477447?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=rs771477447" 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=rs771477447" 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=RCV000017480 OR RCV003974835" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017480, RCV003974835" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017480...</a>
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<p>For discussion of the 469C-T mutation in the SLC2A2 gene that was found in compound heterozygous state in a patient with Fanconi-Bickel syndrome (FBS; <a href="/entry/227810">227810</a>) by <a href="#28" class="mim-tip-reference" title="Santer, R., Groth, S., Kinner, M., Dombrowski, A., Berry, G. T., Brodehl, J., Leonard, J. V., Moses, S., Norgren, S., Skovby, F., Schneppenheim, R., Steinmann, B., Schaub, J. <strong>The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.</strong> Hum. Genet. 110: 21-29, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11810292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11810292</a>] [<a href="https://doi.org/10.1007/s00439-001-0638-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11810292">Santer et al. (2002)</a>, see <a href="#0010">138160.0010</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11810292" 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">rs28928874 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28928874;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=rs28928874" 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=rs28928874" 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=RCV000017481" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017481" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017481</a>
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<p>In a Japanese patient with Fanconi-Bickel syndrome (FBS; <a href="/entry/227810">227810</a>), <a href="#26" class="mim-tip-reference" title="Sakamoto, O., Ogawa, E., Ohura, T., Igarashi, Y., Matsubara, Y., Narisawa, K., Iinuma, K. <strong>Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome.</strong> Pediat. Res. 48: 586-589, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11044475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11044475</a>] [<a href="https://doi.org/10.1203/00006450-200011000-00005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11044475">Sakamoto et al. (2000)</a> found homozygosity for a 1580T-A change in the SLC2A2 gene, resulting in a val423-to-glu (V423E) substitution. The patient's father, mother, and brother were heterozygous for this mutation. The brother had been found to have glucosuria on a preemployment physical with a normal oral glucose tolerance test. The mother had sometimes shown postprandial glucosuria in addition to having a borderline oral glucose tolerance test. The father did not have glucosuria and had a normal oral glucose tolerance test. The mutation was not found in 50 healthy volunteers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11044475" 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">rs1576838294 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1576838294;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=rs1576838294" 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=rs1576838294" 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=RCV000017482" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017482" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017482</a>
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<p>In a Japanese patient with Fanconi-Bickel syndrome (FBS; <a href="/entry/227810">227810</a>) and mental retardation, <a href="#26" class="mim-tip-reference" title="Sakamoto, O., Ogawa, E., Ohura, T., Igarashi, Y., Matsubara, Y., Narisawa, K., Iinuma, K. <strong>Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome.</strong> Pediat. Res. 48: 586-589, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11044475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11044475</a>] [<a href="https://doi.org/10.1203/00006450-200011000-00005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11044475">Sakamoto et al. (2000)</a> identified a homozygous A-to-G substitution at position -2 of the splice acceptor site of intron 2 of the SLC2A2 gene, causing skipping of exon 3 and resulting in a frameshift and creation of a premature termination codon. The patient's mother was heterozygous for the mutation, but the father could not be studied. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11044475" 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>.0014 FANCONI-BICKEL SYNDROME</strong>
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SLC2A2, GLN287TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121909746 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909746;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=rs121909746" 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=rs121909746" 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=RCV000017483" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017483" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017483</a>
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<p>In a Japanese patient diagnosed with Fanconi-Bickel syndrome (FBS; <a href="/entry/227810">227810</a>) after hypergalactosemia was detected by neonatal screening, <a href="#26" class="mim-tip-reference" title="Sakamoto, O., Ogawa, E., Ohura, T., Igarashi, Y., Matsubara, Y., Narisawa, K., Iinuma, K. <strong>Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome.</strong> Pediat. Res. 48: 586-589, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11044475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11044475</a>] [<a href="https://doi.org/10.1203/00006450-200011000-00005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11044475">Sakamoto et al. (2000)</a> found compound heterozygosity for 2 mutations in the SLC2A2 gene: a 1171C-T transition in exon 6, resulting in a gln287-to-ter (Q287X) substitution, inherited from the father, and a 1478T-C transition in exon 8, resulting in a leu389-to-pro (L389P; <a href="#0015">138160.0015</a>) substitution, inherited from the mother. The father did not have glucosuria, but the mother had glucosuria with a normal oral glucose tolerance test. Neither mutation was found in 50 healthy volunteers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11044475" 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>.0015 FANCONI-BICKEL SYNDROME</strong>
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SLC2A2, LEU389PRO
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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> rs121909747 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909747;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/rs121909747?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=rs121909747" 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=rs121909747" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017484" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017484" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017484</a>
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<span class="mim-text-font">
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<p>For discussion of the leu389-to-pro (L389P) mutation in the SLC2A2 gene that was found in compound heterozygous state in a patient with Fanconi-Bickel syndrome (FBS; <a href="/entry/227810">227810</a>) by <a href="#26" class="mim-tip-reference" title="Sakamoto, O., Ogawa, E., Ohura, T., Igarashi, Y., Matsubara, Y., Narisawa, K., Iinuma, K. <strong>Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome.</strong> Pediat. Res. 48: 586-589, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11044475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11044475</a>] [<a href="https://doi.org/10.1203/00006450-200011000-00005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11044475">Sakamoto et al. (2000)</a>, see <a href="#0014">138160.0014</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11044475" 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 id="Akagi2000" class="mim-anchor"></a>
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Akagi, M., Inui, K., Nakajima, S., Shima, M., Nishigaki, T., Muramatsu, T., Kokubu, C., Tsukamoto, H., Sakai, N., Okada, S.
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<strong>Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome.</strong>
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J. Hum. Genet. 45: 60-62, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10697967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10697967</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10697967" 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/s100380050013" target="_blank">Full Text</a>]
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Aperia, A., Bergqvist, G., Linne, T., Zetterstrom, R.
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<strong>Familial Fanconi syndrome with malabsorption and galactose intolerance, normal kinase and transferase activity: a report on two siblings.</strong>
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Acta Paediat. Scand. 70: 527-533, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6274135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6274135</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6274135" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1651-2227.1981.tb05735.x" target="_blank">Full Text</a>]
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Baroni, M. G., Alcolado, J. C., Pozzilli, P., Cavallo, M. G., Li, S. R., Galton, D. J.
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<strong>Polymorphisms at the GLUT2 (beta-cell/liver) glucose transporter gene and non-insulin-dependent diabetes mellitus (NIDDM): analysis in affected pedigree members.</strong>
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Clin. Genet. 41: 229-234, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1351429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1351429</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1351429" 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.1399-0004.1992.tb03671.x" target="_blank">Full Text</a>]
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<a id="Berry1995" class="mim-anchor"></a>
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Berry, G. T., Baker, L., Kaplan, F. S., Witzleben, C. L.
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<strong>Diabetes-like renal glomerular disease in Fanconi-Bickel syndrome.</strong>
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Pediat. Nephrol. 9: 287-291, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7632512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7632512</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7632512" 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/BF02254185" target="_blank">Full Text</a>]
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Burwinkel, B., Sanjad, S. A., Al-Sabban, E., Al-Abbad, A., Kilimann, M. W.
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<strong>A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity.</strong>
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Hum. Genet. 105: 240-243, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10987651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10987651</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10987651" 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/s004390051095" target="_blank">Full Text</a>]
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Efrat, S.
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<strong>Making sense of glucose sensing.</strong>
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Nature Genet. 17: 249-250, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9354775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9354775</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9354775" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2665080/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2665080</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2665080" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.2665080" target="_blank">Full Text</a>]
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<a id="25" class="mim-anchor"></a>
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<a id="Permutt1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Permutt, M. A., Koranyi, L., Keller, K., Lacy, P. E., Scharp, D. W., Mueckler, M.
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<strong>Cloning and functional expression of a human pancreatic islet glucose-transporter cDNA.</strong>
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Proc. Nat. Acad. Sci. 86: 8688-8692, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2479026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2479026</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2479026" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.86.22.8688" target="_blank">Full Text</a>]
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<a id="Sakamoto2000" class="mim-anchor"></a>
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Sakamoto, O., Ogawa, E., Ohura, T., Igarashi, Y., Matsubara, Y., Narisawa, K., Iinuma, K.
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<strong>Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome.</strong>
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Pediat. Res. 48: 586-589, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11044475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11044475</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11044475" 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/10.1203/00006450-200011000-00005" target="_blank">Full Text</a>]
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<a id="27" class="mim-anchor"></a>
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<a id="Sanjad1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sanjad, S. A., Kaddoura, R. E., Nazer, H. M., Akhtar, M., Sakati, N. A.
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<strong>Fanconi's syndrome with hepatorenal glycogenosis associated with phosphorylase b kinase deficiency.</strong>
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Am. J. Dis. Child. 147: 957-959, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8362811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8362811</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8362811" 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/10.1001/archpedi.1993.02160330047016" target="_blank">Full Text</a>]
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<a id="28" class="mim-anchor"></a>
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<a id="Santer2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Santer, R., Groth, S., Kinner, M., Dombrowski, A., Berry, G. T., Brodehl, J., Leonard, J. V., Moses, S., Norgren, S., Skovby, F., Schneppenheim, R., Steinmann, B., Schaub, J.
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<strong>The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.</strong>
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Hum. Genet. 110: 21-29, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11810292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11810292</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11810292" 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/s00439-001-0638-6" target="_blank">Full Text</a>]
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<a id="29" class="mim-anchor"></a>
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<a id="Santer1997" class="mim-anchor"></a>
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<p class="mim-text-font">
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Santer, R., Schneppenheim, R., Dombrowski, A., Gotze, H., Steinmann, B., Schaub, J.
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<strong>Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome.</strong>
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Nature Genet. 17: 324-326, 1997. Note: Erratum: Nature Genet. 18: 298 only, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9354798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9354798</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9354798" 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/ng1197-324" target="_blank">Full Text</a>]
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<a id="30" class="mim-anchor"></a>
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<a id="Santer1998" class="mim-anchor"></a>
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Santer, R., Schneppenheim, R., Dombrowski, A., Gotze, H., Steinmann, B., Schaub, J.
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<strong>Fanconi-Bickel syndrome--a congenital defect of the liver-type facilitative glucose transporter.</strong>
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J. Inherit. Metab. Dis. 21: 191-194, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9686354/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9686354</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9686354" 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/10.1023/a:1005379013406" target="_blank">Full Text</a>]
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<a id="31" class="mim-anchor"></a>
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<a id="Steinmann1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Steinmann, B., Zeller, L.
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<strong>Personal Communication.</strong>
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Zurich and Santa Maria Calanca, Switzerland 8/2/1997.
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</p>
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<a id="32" class="mim-anchor"></a>
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<a id="Takeda1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Takeda, J., Kayano, T., Fukomoto, H., Bell, G. I.
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<strong>Organization of the human GLUT2 (pancreatic beta-cell and hepatocyte) glucose transporter gene.</strong>
|
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Diabetes 42: 773-777, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8482435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8482435</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8482435" 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/10.2337/diab.42.5.773" target="_blank">Full Text</a>]
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<a id="33" class="mim-anchor"></a>
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<a id="Tanizawa1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tanizawa, Y., Riggs, A. C., Chiu, K. C., Janssen, R. C., Bell, D. S. H., Go, R. P. C., Roseman, J. M., Acton, R. T., Permutt, M. A.
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<strong>Variability of the pancreatic islet beta cell/liver (GLUT 2) glucose transporter gene in NIDDM patients.</strong>
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Diabetologia 37: 420-427, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8063045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8063045</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8063045" 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/BF00408481" target="_blank">Full Text</a>]
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<a id="34" class="mim-anchor"></a>
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<a id="Thaiss2018" class="mim-anchor"></a>
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<div class="">
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Thaiss, C. A., Levy, M., Grosheva, I., Zheng, D., Soffer, E., Blacher, E., Braverman, S., Tengeler, A. C., Barak, O., Elazar, M., Ben-Zeev, R., Lehavi-Regev, D., and 11 others.
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<strong>Hyperglycemia drives intestinal barrier dysfunction and risk for enteric infection.</strong>
|
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Science 359: 1376-1383, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29519916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29519916</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29519916" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.aar3318" target="_blank">Full Text</a>]
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<li>
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<a id="35" class="mim-anchor"></a>
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<a id="Thorens1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Thorens, B., Deriaz, N., Bosco, D., DeVos, A., Pipeleers, D., Schuit, F., Meda, P., Porret, A.
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<strong>Protein kinase A-dependent phosphorylation of GLUT2 in pancreatic beta cells.</strong>
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J. Biol. Chem. 271: 8075-8081, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8626492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8626492</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8626492" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.271.14.8075" target="_blank">Full Text</a>]
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</ol>
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<br />
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<a id="contributors" class="mim-anchor"></a>
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div 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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Ada Hamosh - updated : 08/13/2018
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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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Deborah L. Stone - updated : 2/15/2002<br>Victor A. McKusick - updated : 1/25/2002<br>John A. Phillips, III -updated : 7/5/2001<br>Victor A. McKusick - updated : 1/13/2000<br>Victor A. McKusick - updated : 10/19/1999<br>Victor A. McKusick - updated : 9/4/1998<br>Beat Steinmann - updated : 9/11/1997<br>Victor A. McKusick - updated : 11/3/1997
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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Creation Date:
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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 : 9/29/1988
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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carol : 09/03/2020
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<span class="mim-text-font">
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carol : 09/02/2020<br>alopez : 08/13/2018<br>carol : 08/11/2015<br>mcolton : 8/10/2015<br>carol : 8/5/2013<br>alopez : 3/11/2013<br>carol : 7/5/2012<br>ckniffin : 9/24/2009<br>terry : 6/23/2006<br>carol : 3/8/2002<br>carol : 3/1/2002<br>terry : 2/15/2002<br>carol : 2/7/2002<br>mcapotos : 2/5/2002<br>mcapotos : 2/5/2002<br>terry : 1/25/2002<br>alopez : 7/5/2001<br>alopez : 1/14/2000<br>mcapotos : 1/14/2000<br>terry : 1/13/2000<br>alopez : 11/16/1999<br>carol : 10/19/1999<br>carol : 9/9/1998<br>terry : 9/4/1998<br>dkim : 7/21/1998<br>alopez : 3/30/1998<br>alopez : 3/27/1998<br>alopez : 12/1/1997<br>alopez : 11/26/1997<br>alopez : 11/21/1997<br>alopez : 11/14/1997<br>alopez : 11/14/1997<br>alopez : 11/6/1997<br>alopez : 11/5/1997<br>alopez : 11/5/1997<br>alopez : 10/29/1997<br>terry : 7/10/1997<br>alopez : 6/4/1997<br>mark : 2/23/1997<br>carol : 9/23/1994<br>terry : 4/27/1994<br>carol : 6/29/1992<br>carol : 6/19/1992<br>carol : 6/18/1992<br>supermim : 3/16/1992
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<h3>
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<span class="mim-font">
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<strong>*</strong> 138160
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<div>
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<h3>
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<span class="mim-font">
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SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 2; SLC2A2
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</h3>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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GLUCOSE TRANSPORTER 2; GLUT2<br />
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GLUCOSE TRANSPORTER, LIVER/ISLET
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</h4>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: SLC2A2</em></strong>
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</span>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 61598006, 62332007;
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</span>
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</p>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 3q26.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 3:170,996,347-171,026,720 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
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3q26.2
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</span>
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</td>
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<td>
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<span class="mim-font">
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{Diabetes mellitus, noninsulin-dependent}
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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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125853
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Fanconi-Bickel syndrome
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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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227810
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal 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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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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>Fukumoto et al. (1988) described cDNA clones encoding a glucose transporter-like protein isolated from adult human liver and kidney cDNA libraries. The predicted protein sequence of the 524-amino acid glucose transporter-like protein has 55.5% identity with the GLUT1 (138140) gene product. mRNA transcripts of 2.8, 3.4, and 5.4 kb were identified in human adult liver and, in much smaller quantities, in kidney and small intestine. </p><p>Permutt et al. (1989) described the cloning and functional expression of a glucose transporter cDNA isolated from human pancreatic islets. DNA sequence analysis indicated that the islet transporter is identical to the human liver-type glucose transporter polypeptide. They proposed that these cDNA clones can be used to study regulation of expression of the gene and to assess the role of inherited defects in the gene as the possible basis of inherited susceptibility to noninsulin-dependent diabetes mellitus (NIDDM; 125853). Because of its role in glucose signaling for beta-cell insulin release, Permutt et al. (1989) suggested that GLUT2 could be a candidate for an etiologic role in NIDDM. </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>Takeda et al. (1993) described the GLUT2 gene structure as consisting of 11 exons and 10 introns spanning approximately 30 kb. </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>Fukumoto et al. (1988) localized the gene, designated GLUT2, to human chromosome 3q26.1-q26.3 by somatic cell hybridization and in situ hybridization. </p><p>Matsutani et al. (1992) used a (CA)n dinucleotide repeat polymorphism adjacent to the 3-prime end of exon 4a for linkage studies and positioned the GLUT2 gene between markers D3S26 and D3S43 on 3q. </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>By immunocytochemical techniques, Orci et al. (1989) showed that the 'liver-type' glucose transporter is present in the insulin-producing beta cells of rat pancreatic islets but not in other islet endocrine cells. Furthermore, they showed that it is restricted to certain domains of the plasma membrane, its density being 6-fold higher in microvilli facing adjacent endocrine cells than in the flat regions of the plasma membrane. The findings suggested a role for this glucose transporter in glucose sensing by beta cells and provided evidence that these cells are polarized. </p><p>Thaiss et al. (2018) showed in mouse models of obesity and diabetes that hyperglycemia drives intestinal barrier permeability, through GLUT2-dependent transcriptional reprogramming of intestinal epithelial cells and alteration of tight and adherence junction integrity. Consequently, hyperglycemia-mediated barrier disruption leads to systemic influx of microbial products and enhanced dissemination of enteric infection. Treatment of hyperglycemia, intestinal epithelial-specific GLUT2 deletion, or inhibition of glucose metabolism restored barrier function and bacterial containment. In humans, systemic influx of intestinal microbiome products correlated with individualized glycemic control, indicated by glycated hemoglobin levels. Thaiss et al. (2018) concluded that their results mechanistically link hyperglycemia and intestinal barrier function with systemic infectious and inflammatory consequences of obesity and diabetes. </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><strong><em>Type 2 Diabetes Mellitus</em></strong></p><p>
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Using GLUT2 and GLUT4 (138190) cDNA probes, Matsutani et al. (1990) evaluated DNA polymorphisms in genomic DNA from American blacks with type 2 diabetes mellitus (T2D; 601283). The allelic, genotypic, and haplotypic frequencies of the DNA polymorphisms at these loci did not differ from the frequencies in nondiabetic subjects. Because no associations with T2D were found, Matsutani et al. (1990) considered it unlikely that mutations at these loci contribute in a major way to genetic susceptibility to T2D in this population. Using the affected-pedigree-members statistical method, Baroni et al. (1992) could demonstrate no association between the TaqI RFLPs at the GLUT2 locus and T2D. No departure from independent segregation was observed. However, Mueckler et al. (1994) reported a mutation in the GLUT2 gene that abolished transport activity in a patient with type 2 diabetes mellitus; see 138160.0001. </p><p>In the Danish population, Moller et al. (2001) found no evidence supporting the hypothesis that genetic variability in the minimal promoter region of the GLUT2 gene is associated with type 2 diabetes or prediabetic phenotypes. </p><p><strong><em>Fanconi-Bickel Syndrome</em></strong></p><p>
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Santer et al. (1997) stated that Fanconi-Bickel syndrome (FBS; 227810) is the first genetic disorder known to be caused by a detectable genetic defect of one of the facilitative glucose transporters. Santer et al. (1997) reported 3 different homozygous GLUT2 mutations in 4 patients with FBS from 3 unrelated families; all parents tested were heterozygous for the respective mutation. Since the derived truncated translation products (138160.0002; 138160.0003; 138160.0004) cannot be expected to have functional monosaccharide transport activity, Santer et al. (1997) considered it likely that mutations in GLUT2 are the cause of Fanconi-Bickel syndrome. Several lines of evidence suggest that even if truncating mutations would not impair protein localization within the cell membrane, they would result in altered monosaccharide transport. First, the affected codon R365 is part of a highly conserved intracellular (R)XGRR motif common not only to the different facilitative glucose transporters but also to the sugar transport superfamily (Maiden et al., 1987). Second, the distal domain of glucose transport proteins, which in truncating mutations would be lost, has been shown to be essential for monosaccharide transport. According to the alternating conformation model of facilitative glucose transport, translocation of glucose across the cell membrane is thought to occur by a conformational change of the transporter between an inward-facing and an outward-facing substrate binding site. Holman (1989) proposed that these inner and outer glucose-binding sites are located in transmembrane segments 9, 10, and 11 of the GLUT protein. In vitro expression of GLUT mutants in different cell types have confirmed the importance of these segments. Missense mutations changing trp412 or asn415 of GLUT1, noted by Santer et al. (1997) as corresponding to trp444 and asn449 of the GLUT2 protein, respectively, severely impair glucose transport by modulating the inward-facing binding site (Katagiri et al., 1991; Garcia et al., 1992; Ishihara et al., 1991). Oka et al. (1990) demonstrated that a deletion mutant of GLUT1 lacking most of the carboxy-terminal intracellular domain had lost the ability to alternate its conformation and thus was functionally inactive. Third, Thorens et al. (1996) detected carboxy-terminal phosphorylation sites for a cAMP-dependent protein kinase, further emphasizing the role of the carboxy-terminal domain of the GLUT2 protein. </p><p>In a Japanese patient with Fanconi-Bickel syndrome, Akagi et al. (2000) found a homozygous nonsense mutation, trp420 to ter (138160.0006), in the SLC2A2 gene. In a second patient from a nonrelated Japanese family, no mutation was found in the entire protein coding region of the SLC2A2 gene. </p><p>Santer et al. (2002) stated that molecular genetic analysis had been performed in more than 50% of the 109 FBS cases from 88 families that they had been able to locate worldwide since the original report by Fanconi and Bickel (1949). They reported a total of 23 novel mutations of the SLC2A2 gene in 49 patients with a clinical diagnosis of FBS. In the 49 patients, 33 different SLC2A2 mutations (9 missense, 7 nonsense, 10 frameshift, 7 splice site) were detected. Mutations of SLC2A2 were detected in historic FBS patients (138160.0004) in whom some of the characteristic clinical features and the effect of therapy were described for the first time. Mutations were also found in patients with atypical clinical signs such as intestinal malabsorption, failure to thrive, absence of hepatomegaly, or renal hyperfiltration. No single prevalent SLC2A2 mutation was responsible for a significant number of cases. In a high proportion (74%) of FBS patients, the mutation was homozygous, suggesting that the prevalence of SLC2A2 mutations is low in most populations. No mutation hotspots within SLC2A2 or even within homologous sequences among the genes for facilitative glucose transporters were detected. </p><p>Sakamoto et al. (2000) studied 3 Japanese patients with Fanconi-Bickel syndrome and found 4 novel mutations in SLC2A2, including a splice site mutation, a nonsense mutation, and 2 missense mutations (138160.0012-138160.0015). Several family members who had a heterozygous missense mutation were shown to have glucosuria, but a family member heterozygous for the nonsense mutation did not. Sakamoto et al. (2000) speculated that mutant SLC2A2 proteins may have a dominant-negative effect and that heterozygosity for a nonsense mutation may not lead to glucosuria because of selective and efficient degradation of the nonsense mRNA. </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>Animal Model</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>GLUT2 is a low-affinity transporter present in the plasma membrane of pancreatic beta cells, hepatocytes, and intestine and kidney absorptive epithelial cells of mice. A role for GLUT2 in control of glucose-stimulated insulin secretion by pancreatic beta cells has been suggested. Guillam et al. (1997) showed that homozygous mice deficient in GLUT2 are hyperglycemic and relatively hypoinsulinemic and have elevated plasma levels of glucagon, free fatty acids, and beta-hydroxybutyrate. In vivo, their glucose tolerance was abnormal. In vitro, beta-cells displayed loss of control of insulin gene expression by glucose and impaired glucose-stimulated insulin secretion. This was accompanied by alterations in the postnatal development of pancreatic islets, evidenced by an inversion of the alpha- to beta-cell ratio. GLUT2 was thus demonstrated to be required to maintain normal glucose homeostasis and normal function and development of the endocrine pancreas. Its absence led to symptoms characteristic of noninsulin-dependent diabetes mellitus. </p><p>Efrat (1997) placed the work of Guillam et al. (1997) in perspective. Of the 6 known glucose transporters, each with its specialized function and tissue distribution, beta cells (as well as hepatocytes and epithelial cells of the kidney and intestine) express the type with the lowest affinity and the highest capacity for glucose, GLUT2. This allows beta cells to take up glucose effectively only in times of plenty, when insulin release is needed, and renders GLUT2 a prime suspect as the glucose sensor. Efrat (1997) concluded, however, that the extreme circumstance of total absence of GLUT2 in the knockout animal probably should not be taken as reinstating GLUT2 as a contender for the title of the beta-cell glucose sensor. </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>15 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 TYPE 2 DIABETES MELLITUS, SUSCEPTIBILITY TO</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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SLC2A2, VAL197ILE
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<br />
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SNP: rs121909741,
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gnomAD: rs121909741,
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ClinVar: RCV000017470, RCV000445382, RCV002476985, RCV002513076
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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>Tanizawa et al. (1994) reported 2 amino acid substitutions in the human GLUT2 gene: a thr110-to-ile substitution was present at equal frequency in diabetic and control populations, whereas a val197-to-ile substitution was discovered in a single allele of a patient with noninsulin-dependent diabetes (125853). Mueckler et al. (1994) tested the effect of these amino acid changes on glucose transport activity by expression of the mutant proteins in Xenopus oocytes. The polymorphism at threonine-110 had no effect on the expression of GLUT protein or the uptake of 2-deoxyglucose. On the other hand, the highly conserved val197-to-ile amino acid change abolished transport activity of the GLUT2 transporter expressed in Xenopus oocytes. This was the first known dysfunctional mutation in a human facilitative glucose transporter protein. The presence of the mutation in a diabetic patient suggested that defects in GLUT2 expression may be causally involved in the pathogenesis of noninsulin-dependent diabetes mellitus. </p><p>Santer et al. (2002) stated that the patient reported by Tanizawa et al. (1994) was a woman of African American descent with gestational diabetes mellitus and that the V197I mutation was heterozygous. </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 FANCONI-BICKEL SYNDROME</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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SLC2A2, 1-BP DEL
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<br />
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ClinVar: RCV000017471
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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>Santer et al. (1997) reported that the 2 Turkish sibs with Fanconi-Bickel syndrome (FBS; 227810) described by Muller et al. (1997) were homozygous for a single-base deletion in a stretch of 4 thymine residues (positions 446 to 449) in exon 3. This mutation caused a frameshift that predicted an aberrant transcription product with a premature TGA stop at codon 74 in the same exon, resulting in a truncated protein of 45 regular and 28 aberrant amino acids. If translated and transferred to the cell membrane, this truncated GLUT2 protein would have only 1 of 12 transmembrane segments, too small to form the hydrophilic tunnel for monosaccharide transport (Mueckler et al., 1985). Both consanguineous parents as well as one sister were heterozygous for this mutation. Santer et al. (1998) stated that this mutation had been found in 4 patients, including the original patient described by Fanconi and Bickel (1949), from 3 families. </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 FANCONI-BICKEL SYNDROME</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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SLC2A2, ARG365TER
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<br />
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SNP: rs121909742,
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gnomAD: rs121909742,
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ClinVar: RCV000017472, RCV002490379, RCV004719651, RCV004732549
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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>Santer et al. (1997) described a Turkish boy with Fanconi-Bickel syndrome (FBS; 227810) who was homozygous for a C-to-T transition (CGA to TGA) at nucleotide 1405 in exon 8, causing a nonsense arg365-to-ter mutation (R365X); the mother was heterozygous for the C1405T mutation, as expected. The father was not available for analysis. The mutation predicts a truncated GLUT2 protein with only 8 of the 12 membrane-spanning segments. </p><p>Santer et al. (2002) stated that they had found the R365X mutation, which involves a CpG dinucleotide, in 4 unrelated families. </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>.0004 FANCONI-BICKEL SYNDROME</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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SLC2A2, ARG301TER
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<br />
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SNP: rs121909743,
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gnomAD: rs121909743,
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ClinVar: RCV000017473, RCV002496390
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a patient with Fanconi-Bickel syndrome (FBS; 227810) originally reported by Fanconi and Bickel (1949) and later by Gitzelmann (1957), Santer et al. (1997) described a homozygous C-to-T transition (CGA to TGA) at nucleotide 1213 in exon 6, causing a nonsense arg301-to-ter (R301X) mutation. (In an erratum to Santer et al. (1997), the authors pointed out that the transition as noted in the paper at nucleotide 1251 was incorrect, but that the amino acid mutation was correctly reported as R301X.) This change predicted a truncated GLUT2 protein with only 6 of the 12 membrane-spanning segments. At age 52 years, the patient was 140 cm tall and still lived in a remote valley of the southern Swiss Alps. He showed persistent clinical and chemical features of FBS. His consanguineous parents had died at ages 75 and 73 years; there was no evidence of diabetes mellitus (Steinmann and Zeller, 1997). </p><p>Santer et al. (2002) stated that they had found this mutation, which involves a CpG dinucleotide, in 4 unrelated families. </p>
|
|
</span>
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</div>
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<div>
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|
<br />
|
|
</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">
|
|
<strong>.0005 FANCONI-BICKEL SYNDROME</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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SLC2A2, PRO417LEU
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<br />
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SNP: rs121909744,
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|
|
gnomAD: rs121909744,
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|
|
ClinVar: RCV000017475
|
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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 1 large family with a high degree of consanguinity and several affected individuals (both male and female), markedly reduced liver phosphorylase kinase activity was found in association with the characteristic clinical features and laboratory findings of Fanconi-Bickel syndrome (FBS; 227810) (Sanjad et al., 1993). This suggested that Fanconi-Bickel syndrome is genetically heterogeneous and that there may be another subtype of PHK deficiency (possibly associated with a distinctive genotype) that gives rise to hepatorenal glycogenosis. Burwinkel et al. (1999) showed that affected members of this family in fact had a homozygous missense mutation, pro417 to leu, in the GLUT2 gene. The affected proline residue is completely conserved in all mammalian glucose permease isoforms and even in bacterial sugar transporters and is believed to be critical for the passage of glucose through the permease. Homozygosity for this mutation was found in 7 affected individuals from different branches of the same large consanguineous kindred. The low PHK activity was thought to be a secondary phenomenon that contributed to the deposition of glycogen in response to the intracellular glucose retention caused by GLUT2 deficiency. </p>
|
|
</span>
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</div>
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<div>
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<br />
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|
</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0006 FANCONI-BICKEL SYNDROME</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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SLC2A2, TRP420TER
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<br />
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SNP: rs121909745,
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ClinVar: RCV000017476
|
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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 a Japanese patient with Fanconi-Bickel syndrome (FBS; 227810), Akagi et al. (2000) found a homozygous G-to-A transition at nucleotide 1159 in exon 9 of the GLUT2 gene resulting in a nonsense mutation, trp420 to ter. </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>
|
|
<span class="mim-font">
|
|
<strong>.0007 FANCONI-BICKEL SYNDROME</strong>
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</span>
|
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</h4>
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|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
SLC2A2, 1-BP DEL, 1363G
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<br />
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|
SNP: rs1715390589,
|
|
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|
|
|
|
|
ClinVar: RCV000017477
|
|
|
|
|
|
</span>
|
|
</div>
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|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sibs of English ancestry with Fanconi-Bickel syndrome (FBS; 227810) described by Lee et al. (1995), Santer et al. (2002) identified compound heterozygosity for 1363delG and 1405C-T (138160.0008) mutations in the SLC2A2 gene. It was in these sibs that Lee et al. (1995) demonstrated the successful use of cornstarch in the management of this disorder. </p>
|
|
</span>
|
|
</div>
|
|
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|
<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 FANCONI-BICKEL SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
|
SLC2A2, 1405C-T
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|
<br />
|
|
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|
|
|
|
ClinVar: RCV000017472, RCV002490379, RCV004719651, RCV004732549
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 1405C-T mutation in the SLC2A2 gene that was found in compound heterozygous state in 2 sibs with Fanconi-Bickel syndrome (FBS; 227810) by Santer et al. (2002), see 138160.0007. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 FANCONI-BICKEL SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC2A2, 1-BP INS, 793C
|
|
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|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000017478
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sibs of Turkish-Assyrian ancestry reported by Aperia et al. (1981), the presenting sign of Fanconi-Bickel syndrome (FBS; 227810) in infancy was failure to thrive because of intestinal malabsorption; hepatomegaly was absent. Santer et al. (2002) found that these sibs were homozygous for a splice acceptor site 1-bp insertion, 793-4insC. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 FANCONI-BICKEL SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC2A2, 1264G-A
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs780067980,
|
|
|
|
|
|
gnomAD: rs780067980,
|
|
|
|
|
|
ClinVar: RCV000017479
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a white American infant with Fanconi-Bickel syndrome (FBS; 227810) and associated renal hyperfiltration reported by (Berry et al., 1995), Santer et al. (2002) found compound heterozygosity for 1264G-A and 469C-T (138160.0011) mutations in the SLC2A2 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 FANCONI-BICKEL SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC2A2, 469C-T
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs771477447,
|
|
|
|
|
|
gnomAD: rs771477447,
|
|
|
|
|
|
ClinVar: RCV000017480, RCV003974835
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 469C-T mutation in the SLC2A2 gene that was found in compound heterozygous state in a patient with Fanconi-Bickel syndrome (FBS; 227810) by Santer et al. (2002), see 138160.0010. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 FANCONI-BICKEL SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC2A2, VAL423GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28928874,
|
|
|
|
|
|
|
|
ClinVar: RCV000017481
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese patient with Fanconi-Bickel syndrome (FBS; 227810), Sakamoto et al. (2000) found homozygosity for a 1580T-A change in the SLC2A2 gene, resulting in a val423-to-glu (V423E) substitution. The patient's father, mother, and brother were heterozygous for this mutation. The brother had been found to have glucosuria on a preemployment physical with a normal oral glucose tolerance test. The mother had sometimes shown postprandial glucosuria in addition to having a borderline oral glucose tolerance test. The father did not have glucosuria and had a normal oral glucose tolerance test. The mutation was not found in 50 healthy volunteers. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 FANCONI-BICKEL SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC2A2, IVS2AS, A-G, -2
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1576838294,
|
|
|
|
|
|
|
|
ClinVar: RCV000017482
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese patient with Fanconi-Bickel syndrome (FBS; 227810) and mental retardation, Sakamoto et al. (2000) identified a homozygous A-to-G substitution at position -2 of the splice acceptor site of intron 2 of the SLC2A2 gene, causing skipping of exon 3 and resulting in a frameshift and creation of a premature termination codon. The patient's mother was heterozygous for the mutation, but the father could not be studied. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 FANCONI-BICKEL SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC2A2, GLN287TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121909746,
|
|
|
|
|
|
|
|
ClinVar: RCV000017483
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese patient diagnosed with Fanconi-Bickel syndrome (FBS; 227810) after hypergalactosemia was detected by neonatal screening, Sakamoto et al. (2000) found compound heterozygosity for 2 mutations in the SLC2A2 gene: a 1171C-T transition in exon 6, resulting in a gln287-to-ter (Q287X) substitution, inherited from the father, and a 1478T-C transition in exon 8, resulting in a leu389-to-pro (L389P; 138160.0015) substitution, inherited from the mother. The father did not have glucosuria, but the mother had glucosuria with a normal oral glucose tolerance test. Neither mutation was found in 50 healthy volunteers. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 FANCONI-BICKEL SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC2A2, LEU389PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121909747,
|
|
|
|
|
|
gnomAD: rs121909747,
|
|
|
|
|
|
ClinVar: RCV000017484
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the leu389-to-pro (L389P) mutation in the SLC2A2 gene that was found in compound heterozygous state in a patient with Fanconi-Bickel syndrome (FBS; 227810) by Sakamoto et al. (2000), see 138160.0014. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Akagi, M., Inui, K., Nakajima, S., Shima, M., Nishigaki, T., Muramatsu, T., Kokubu, C., Tsukamoto, H., Sakai, N., Okada, S.
|
|
<strong>Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome.</strong>
|
|
J. Hum. Genet. 45: 60-62, 2000.
|
|
|
|
|
|
[PubMed: 10697967]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s100380050013]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Aperia, A., Bergqvist, G., Linne, T., Zetterstrom, R.
|
|
<strong>Familial Fanconi syndrome with malabsorption and galactose intolerance, normal kinase and transferase activity: a report on two siblings.</strong>
|
|
Acta Paediat. Scand. 70: 527-533, 1981.
|
|
|
|
|
|
[PubMed: 6274135]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1651-2227.1981.tb05735.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Baroni, M. G., Alcolado, J. C., Pozzilli, P., Cavallo, M. G., Li, S. R., Galton, D. J.
|
|
<strong>Polymorphisms at the GLUT2 (beta-cell/liver) glucose transporter gene and non-insulin-dependent diabetes mellitus (NIDDM): analysis in affected pedigree members.</strong>
|
|
Clin. Genet. 41: 229-234, 1992.
|
|
|
|
|
|
[PubMed: 1351429]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1992.tb03671.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Berry, G. T., Baker, L., Kaplan, F. S., Witzleben, C. L.
|
|
<strong>Diabetes-like renal glomerular disease in Fanconi-Bickel syndrome.</strong>
|
|
Pediat. Nephrol. 9: 287-291, 1995.
|
|
|
|
|
|
[PubMed: 7632512]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF02254185]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Burwinkel, B., Sanjad, S. A., Al-Sabban, E., Al-Abbad, A., Kilimann, M. W.
|
|
<strong>A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity.</strong>
|
|
Hum. Genet. 105: 240-243, 1999.
|
|
|
|
|
|
[PubMed: 10987651]
|
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Contributors:
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<span class="mim-text-font">
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Ada Hamosh - updated : 08/13/2018<br>Deborah L. Stone - updated : 2/15/2002<br>Victor A. McKusick - updated : 1/25/2002<br>John A. Phillips, III -updated : 7/5/2001<br>Victor A. McKusick - updated : 1/13/2000<br>Victor A. McKusick - updated : 10/19/1999<br>Victor A. McKusick - updated : 9/4/1998<br>Beat Steinmann - updated : 9/11/1997<br>Victor A. McKusick - updated : 11/3/1997
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Victor A. McKusick : 9/29/1988
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carol : 09/03/2020<br>carol : 09/02/2020<br>alopez : 08/13/2018<br>carol : 08/11/2015<br>mcolton : 8/10/2015<br>carol : 8/5/2013<br>alopez : 3/11/2013<br>carol : 7/5/2012<br>ckniffin : 9/24/2009<br>terry : 6/23/2006<br>carol : 3/8/2002<br>carol : 3/1/2002<br>terry : 2/15/2002<br>carol : 2/7/2002<br>mcapotos : 2/5/2002<br>mcapotos : 2/5/2002<br>terry : 1/25/2002<br>alopez : 7/5/2001<br>alopez : 1/14/2000<br>mcapotos : 1/14/2000<br>terry : 1/13/2000<br>alopez : 11/16/1999<br>carol : 10/19/1999<br>carol : 9/9/1998<br>terry : 9/4/1998<br>dkim : 7/21/1998<br>alopez : 3/30/1998<br>alopez : 3/27/1998<br>alopez : 12/1/1997<br>alopez : 11/26/1997<br>alopez : 11/21/1997<br>alopez : 11/14/1997<br>alopez : 11/14/1997<br>alopez : 11/6/1997<br>alopez : 11/5/1997<br>alopez : 11/5/1997<br>alopez : 10/29/1997<br>terry : 7/10/1997<br>alopez : 6/4/1997<br>mark : 2/23/1997<br>carol : 9/23/1994<br>terry : 4/27/1994<br>carol : 6/29/1992<br>carol : 6/19/1992<br>carol : 6/18/1992<br>supermim : 3/16/1992
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