3891 lines
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Entry
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- *603941 - SOLUTE CARRIER FAMILY 19 (THIAMINE TRANSPORTER), MEMBER 2; SLC19A2
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*603941</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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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<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="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/603941">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div 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=ENSG00000117479;t=ENST00000236137" 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=10560" 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=603941" 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=ENSG00000117479;t=ENST00000236137" 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_001319667,NM_006996" 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_006996" 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=603941" 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=04897&isoform_id=04897_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/SLC19A2" 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/5453326,5514677,5514679,5668620,5764391,5764397,5852860,6524689,12643426,14149179,17391215,27734719,30962027,62088660,119611249,119611250,119611251,119611252,119611253,164370706,189054010,194384326,221046318,310781373,399525566,957950807,957950810,985567534" 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/O60779" 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=10560" 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=ENSG00000117479;t=ENST00000236137" 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=SLC19A2" 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=SLC19A2" 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+10560" 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/SLC19A2" 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:10560" 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/10560" 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=chr1&hgg_gene=ENST00000236137.10&hgg_start=169463909&hgg_end=169485970&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://medlineplus.gov/genetics/gene/slc19a2" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=603941[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 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=603941[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/SLC19A2/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000117479" 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=SLC19A2" 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=SLC19A2" 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=SLC19A2" 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="http://www.euro-wabb.org/en/lovd-genetic-variation-database" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=SLC19A2&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/PA35825" 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:10938" 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/FBgn0032449.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:1928761" 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/SLC19A2#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:1928761" 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/10560/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=10560" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00007388;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-110411-262" 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:10560" 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=SLC19A2&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> 237617006<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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603941
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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 19 (THIAMINE TRANSPORTER), MEMBER 2; SLC19A2
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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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THIAMINE TRANSPORTER PROTEIN 1; THTR1; THT1
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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=SLC19A2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SLC19A2</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/1/1403?start=-3&limit=10&highlight=1403">1q24.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:169463909-169485970&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'})">1:169,463,909-169,485,970</a> </span>
|
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</em>
|
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
|
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</div>
|
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
|
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>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/1/1403?start=-3&limit=10&highlight=1403">
|
|
1q24.2
|
|
</a>
|
|
</span>
|
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</td>
|
|
|
|
|
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<td>
|
|
<span class="mim-font">
|
|
Thiamine-responsive megaloblastic anemia syndrome
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/249270"> 249270 </a>
|
|
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/603941" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/603941" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p>The SLC19A2 gene encodes a functional thiamine transporter (<a href="#3" class="mim-tip-reference" title="Fleming, J. C., Tartaglini, E., Steinkamp, M. P., Schorderet, D. F., Cohen, N., Neufeld, E. J. <strong>The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter.</strong> Nature Genet. 22: 305-308, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10391222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10391222</a>] [<a href="https://doi.org/10.1038/10379" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10391222">Fleming et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10391222" 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 positional cloning, <a href="#4" class="mim-tip-reference" title="Labay, V., Raz, T., Baron, D., Mandel, H., Williams, H., Barrett, T., Szargel, R., McDonald, L., Shalata, A., Nosaka, K., Gregory, S., Cohen, N. <strong>Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness.</strong> Nature Genet. 22: 300-304, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10391221/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10391221</a>] [<a href="https://doi.org/10.1038/10372" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10391221">Labay et al. (1999)</a> identified the SLC19A2 gene within the critical region of the locus for thiamine-responsive megaloblastic anemia syndrome (TRMA; <a href="/entry/249270">249270</a>) on chromosome 1q23.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10391221" 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>Due to its homology with SLC19A1 (<a href="/entry/600424">600424</a>), a reduced folate carrier protein, <a href="#1" class="mim-tip-reference" title="Diaz, G. A., Banikazemi, M., Oishi, K., Desnick, R. J., Gelb, B. D. <strong>Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome.</strong> Nature Genet. 22: 309-312, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10391223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10391223</a>] [<a href="https://doi.org/10.1038/10385" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10391223">Diaz et al. (1999)</a> identified the SLC19A2 gene in the critical region 1q23.2-q23.3 and cloned the entire SLC19A2 coding region by screening a human fetal brain cDNA library. The SLC19A2 gene encodes a protein of 497 amino acids predicted to have 12 transmembrane domains. Northern blot analysis detected a 4-kb transcript in all tissues tested, most abundantly in skeletal and cardiac muscle. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10391223" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Dutta, B., Huang, W., Molero, M., Kekuda, R., Leibach, F. H., Devoe, L. D., Ganapathy, V., Prasad, P. D. <strong>Cloning of the human thiamine transporter, a member of the folate transporter family.</strong> J. Biol. Chem. 274: 31925-31929, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10542220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10542220</a>] [<a href="https://doi.org/10.1074/jbc.274.45.31925" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10542220">Dutta et al. (1999)</a> independently cloned SLC19A2, which they called THT1, from a placenta cDNA library. The deduced 497-amino acid protein has a calculated molecular mass of 55.4 kD. It contains 12 putative transmembrane domains, with cytosolic N and C termini. THT1 also has 2 N-glycosylation sites in putative extracellular domains, 3 phosphorylation sites in putative intracellular domains, and a 17-amino acid G protein-coupled receptor signature sequence. The THT1 protein shares 40% amino acid identity with the reduced folate transporter RFC1 (SLC19A1). Northern blot analysis detected variable expression of a 3.8-kb transcript in most tissues examined, with highest expression in skeletal muscle, followed by placenta, heart, liver, and kidney. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10542220" 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="#13" class="mim-tip-reference" title="Subramanya, S. B., Subramanian, V. S., Sekar, V. T., Said, H. M. <strong>Thiamin uptake by pancreatic acinar cells: effect of chronic alcohol feeding/exposure.</strong> Am. J. Physiol. Gastrointest. Liver Physiol. 301: G896-G904, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21868632/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21868632</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21868632[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1152/ajpgi.00308.2011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21868632">Subramanya et al. (2011)</a> found expression of both the Slc19a2 and Slc19a3 genes in rat pancreatic acinar cells, with Slc19a2 showing higher expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21868632" 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>Independently, <a href="#4" class="mim-tip-reference" title="Labay, V., Raz, T., Baron, D., Mandel, H., Williams, H., Barrett, T., Szargel, R., McDonald, L., Shalata, A., Nosaka, K., Gregory, S., Cohen, N. <strong>Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness.</strong> Nature Genet. 22: 300-304, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10391221/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10391221</a>] [<a href="https://doi.org/10.1038/10372" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10391221">Labay et al. (1999)</a> and <a href="#2" class="mim-tip-reference" title="Dutta, B., Huang, W., Molero, M., Kekuda, R., Leibach, F. H., Devoe, L. D., Ganapathy, V., Prasad, P. D. <strong>Cloning of the human thiamine transporter, a member of the folate transporter family.</strong> J. Biol. Chem. 274: 31925-31929, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10542220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10542220</a>] [<a href="https://doi.org/10.1074/jbc.274.45.31925" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10542220">Dutta et al. (1999)</a> found that the SLC19A2 gene contains 6 exons and spans approximately 22.5 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10391221+10542220" 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 assaying transfected HeLa cells, <a href="#2" class="mim-tip-reference" title="Dutta, B., Huang, W., Molero, M., Kekuda, R., Leibach, F. H., Devoe, L. D., Ganapathy, V., Prasad, P. D. <strong>Cloning of the human thiamine transporter, a member of the folate transporter family.</strong> J. Biol. Chem. 274: 31925-31929, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10542220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10542220</a>] [<a href="https://doi.org/10.1074/jbc.274.45.31925" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10542220">Dutta et al. (1999)</a> showed that THT1 mediated thiamine transport. THT1 did not transport any other organic cation tested, and it did not transport any folate tested. Transport of thiamine by THT1 was independent of Na(+) and showed a pH optimum of 8.0 for recombinant THT1. In contrast, endogenous thiamine transport in HeLa cells kept increasing even when pH was increased to 8.5. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10542220" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By transfecting fluorescence-tagged deletion constructs of SLC19A2 into epithelial cell lines, <a href="#12" class="mim-tip-reference" title="Subramanian, V. S., Marchant, J. S., Parker, I., Said, H. M. <strong>Cell biology of the human thiamine transporter-1 (hTHTR1): intracellular trafficking and membrane targeting mechanisms.</strong> J. Biol. Chem. 278: 3976-3984, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12454006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12454006</a>] [<a href="https://doi.org/10.1074/jbc.M210717200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12454006">Subramanian et al. (2003)</a> determined that the N-terminal domain and the sequence between transmembrane domain 6 and the C-terminal domain were required for proper plasma membrane targeting of SLC19A2. Inhibitor studies showed that SLC19A2 was transported to the plasma membrane via microtubule-based intracellular vesicles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12454006" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Diaz, G. A., Banikazemi, M., Oishi, K., Desnick, R. J., Gelb, B. D. <strong>Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome.</strong> Nature Genet. 22: 309-312, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10391223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10391223</a>] [<a href="https://doi.org/10.1038/10385" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10391223">Diaz et al. (1999)</a> mapped the SLC19A2 gene to chromosome 1q23.2-q23.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10391223" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In all affected individuals in 6 families segregating thiamine-responsive megaloblastic anemia syndrome (TRMA), also known as thiamine metabolism dysfunction syndrome-1 (THMD1; <a href="/entry/249270">249270</a>), <a href="#4" class="mim-tip-reference" title="Labay, V., Raz, T., Baron, D., Mandel, H., Williams, H., Barrett, T., Szargel, R., McDonald, L., Shalata, A., Nosaka, K., Gregory, S., Cohen, N. <strong>Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness.</strong> Nature Genet. 22: 300-304, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10391221/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10391221</a>] [<a href="https://doi.org/10.1038/10372" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10391221">Labay et al. (1999)</a> identified homozygous mutations in the SLC19A2 gene (see, e.g., <a href="#0001">603941.0001</a>-<a href="#0004">603941.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10391221" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Fleming, J. C., Tartaglini, E., Steinkamp, M. P., Schorderet, D. F., Cohen, N., Neufeld, E. J. <strong>The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter.</strong> Nature Genet. 22: 305-308, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10391222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10391222</a>] [<a href="https://doi.org/10.1038/10379" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10391222">Fleming et al. (1999)</a> used a candidate gene approach to identify putative thiamine transporters in the 1q23.3 critical region for TRMA and found mutations in the SLC19A2 gene in 2 families with TRMA, 1 Alaskan, studied by <a href="#7" class="mim-tip-reference" title="Neufeld, E. J., Mandel, H., Raz, T., Szargel, R., Yandava, C. N., Stagg, A., Faure, S., Barrett, T., Buist, N., Cohen, N. <strong>Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping.</strong> Am. J. Hum. Genet. 61: 1335-1341, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9399900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9399900</a>] [<a href="https://doi.org/10.1086/301642" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9399900">Neufeld et al. (1997)</a>, and 1 Turkish-Kurdish living in Switzerland (<a href="#0005">603941.0005</a> and <a href="#0006">603941.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10391222+9399900" 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>Among 4 Iranian families with TRMA, <a href="#1" class="mim-tip-reference" title="Diaz, G. A., Banikazemi, M., Oishi, K., Desnick, R. J., Gelb, B. D. <strong>Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome.</strong> Nature Genet. 22: 309-312, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10391223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10391223</a>] [<a href="https://doi.org/10.1038/10385" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10391223">Diaz et al. (1999)</a> identified 2 frameshift mutations in exon 2, a 1-bp insertion and a 2-bp deletion, of the SLC19A2 gene (<a href="#0007">603941.0007</a>-<a href="#0008">603941.0008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10391223" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Raz, T., Labay, V., Baron, D., Szargel, R., Anbinder, Y., Barrett, T., Rabl, W., Viana, M. B., Mandel, H., Baruchel, A., Cayuela, J.-M., Cohen, N. <strong>The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families.</strong> Hum. Mutat. 16: 37-43, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10874303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10874303</a>] [<a href="https://doi.org/10.1002/1098-1004(200007)16:1<37::AID-HUMU7>3.0.CO;2-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10874303">Raz et al. (2000)</a> summarized knowledge on mutations in the SLC19A2 gene in TRMA patients and identified 4 novel mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10874303" 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>To generate a mouse model of TRMA, <a href="#8" class="mim-tip-reference" title="Oishi, K., Hofmann, S., Diaz, G. A., Brown, T., Manwani, D., Ng, L., Young, R., Vlassara, H., Ioannou, Y. A., Forrest, D., Gelb, B. D. <strong>Targeted disruption of Slc19a2, the gene encoding the high-affinity thiamin transporter Thtr-1, causes diabetes mellitus, sensorineural deafness and megaloblastosis in mice.</strong> Hum. Molec. Genet. 11: 2951-2960, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12393806/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12393806</a>] [<a href="https://doi.org/10.1093/hmg/11.23.2951" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12393806">Oishi et al. (2002)</a> disrupted the Slc19a2 gene in mice by homologous recombination in embryonic stem cells. Erythrocytes from the null mice lacked the high-affinity component of thiamine transport. On a thiamine-free diet, null mice developed diabetes mellitus with reduced insulin (<a href="/entry/176730">176730</a>) secretion and an enhanced response to insulin. The diabetes mellitus resolved after 6 weeks of thiamine repletion. Auditory-evoked brainstem response thresholds were markedly elevated in null mice on a thiamine-free diet, but were normal in wildtype mice treated on that diet as well as thiamine-fed-null mice. Bone marrows from thiamine-deficient null mice were abnormal, with a megaloblastosis affecting the erythroid, myeloid, and megakaryocyte lines. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12393806" 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="Liberman, M. C., Tartaglini, E., Fleming, J. C., Neufeld, E. J. <strong>Deletion of SLC19A2, the high affinity thiamine transporter, causes selective inner hair cell loss and an auditory neuropathy phenotype.</strong> J. Assoc. Res. Otolaryng. 7: 211-217, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16642288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16642288</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16642288[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1007/s10162-006-0035-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16642288">Liberman et al. (2006)</a> found that Slc19a2-knockout mice on a low thiamine diet developed hearing loss, as shown by 40- to 60-dB threshold elevations on auditory brainstem response (ABR). However, there were only 10- to 20-dB elevations by otoacoustic emission (OAE) measures. Histologic studies showed selective loss of inner hair cells in the cochlea after 1 to 2 weeks on low thiamine. There was significantly greater inner than outer hair cell loss after a longer period of time. Wildtype mice on a low thiamine diet showed no hearing deficit. These results suggested that Slc19a2-null mice have an auditory neuropathy phenotype, in which cochlear neural responses are significantly more reduced than the reduction in cochlear amplifier function. The selective loss of inner hair cells was a rare type of sensorineural histopathology. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16642288" 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="#10" class="mim-tip-reference" title="Reidling, J. C., Lambrecht, N., Kassir, M., Said, H. M. <strong>Impaired intestinal vitamin B1 (thiamin) uptake in thiamin transporter-2-deficient mice.</strong> Gastroenterology 138: 1802-1809, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19879271/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19879271</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19879271[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1053/j.gastro.2009.10.042" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19879271">Reidling et al. (2010)</a> found that Slc19a3 (<a href="/entry/606152">606152</a>)-null mice had reduced uptake of intestinal thiamine and decreased serum thiamine compared to wildtype mice. However, intestinal uptake of thiamine in Slc19a2-null mice was not significantly different from that of wildtype mice. Moreover, the level of expression of Slc19a2 was not altered in the intestine of Slc19a3-null mice, but the level of expression of Slc19a3 was upregulated in the intestine of Slc19a2-null mice, thus compensating for the defect. The findings suggested that Slc19a3 is required for normal uptake of thiamine in the intestine, and can fulfill normal levels of uptake in conditions associated with Slc19a2 dysfunction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19879271" 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="#13" class="mim-tip-reference" title="Subramanya, S. B., Subramanian, V. S., Sekar, V. T., Said, H. M. <strong>Thiamin uptake by pancreatic acinar cells: effect of chronic alcohol feeding/exposure.</strong> Am. J. Physiol. Gastrointest. Liver Physiol. 301: G896-G904, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21868632/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21868632</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21868632[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1152/ajpgi.00308.2011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21868632">Subramanya et al. (2011)</a> found expression of both the Slc19a2 and Slc19a3 (<a href="/entry/606152">606152</a>) genes in rat pancreatic acinar cells. Chronic alcohol feeding of rats resulted in significant inhibition of carrier-mediated thiamine uptake by pancreatic acinar cells, and was associated with a significant reduction in expression of Slc19a2 and Slc19a3 at the protein and mRNA levels. The results demonstrated that thiamine uptake by pancreatic acinar cells occurs through a carrier-mediated process, and that thiamine transporters are expressed in these cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21868632" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of 2 Israeli families with thiamine-responsive megaloblastic anemia syndrome (TRMA; <a href="/entry/249270">249270</a>), <a href="#4" class="mim-tip-reference" title="Labay, V., Raz, T., Baron, D., Mandel, H., Williams, H., Barrett, T., Szargel, R., McDonald, L., Shalata, A., Nosaka, K., Gregory, S., Cohen, N. <strong>Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness.</strong> Nature Genet. 22: 300-304, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10391221/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10391221</a>] [<a href="https://doi.org/10.1038/10372" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10391221">Labay et al. (1999)</a> found a homozygous 1-bp deletion (724delC) in exon 2 of the SLC19A2 gene, causing a frameshift at codon 242 and creating a stop at codon 259. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10391221" 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> rs28937595 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28937595;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/rs28937595?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=rs28937595" 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=rs28937595" 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=RCV000006321 OR RCV000486790" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006321, RCV000486790" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006321...</a>
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<p>In an Italian family, <a href="#4" class="mim-tip-reference" title="Labay, V., Raz, T., Baron, D., Mandel, H., Williams, H., Barrett, T., Szargel, R., McDonald, L., Shalata, A., Nosaka, K., Gregory, S., Cohen, N. <strong>Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness.</strong> Nature Genet. 22: 300-304, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10391221/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10391221</a>] [<a href="https://doi.org/10.1038/10372" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10391221">Labay et al. (1999)</a> found a homozygous 515G-A transition in exon 2 of the SLC19A2 gene, predicting a gly172-to-asp amino acid change, as the cause of thiamine-responsive megaloblastic anemia (TRMA; <a href="/entry/249270">249270</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10391221" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs74315374 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs74315374;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/rs74315374?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=rs74315374" 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=rs74315374" 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=RCV000006322 OR RCV002512828" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006322, RCV002512828" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006322...</a>
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<p>In an Indian family with thiamine-responsive megaloblastic anemia syndrome (TRMA; <a href="/entry/249270">249270</a>), <a href="#4" class="mim-tip-reference" title="Labay, V., Raz, T., Baron, D., Mandel, H., Williams, H., Barrett, T., Szargel, R., McDonald, L., Shalata, A., Nosaka, K., Gregory, S., Cohen, N. <strong>Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness.</strong> Nature Genet. 22: 300-304, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10391221/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10391221</a>] [<a href="https://doi.org/10.1038/10372" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10391221">Labay et al. (1999)</a> found a homozygous 750G-A transition in exon 2 of the SLC19A2 gene leading to a nonsense mutation, trp250 to ter, in the protein product. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10391221" 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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<span class="mim-font">
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<strong>.0005 THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME</strong>
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SLC19A2, 1-BP DEL, 885T
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1571532822 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1571532822;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=rs1571532822" 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=rs1571532822" 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=RCV000006323" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006323" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006323</a>
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<p>In affected members from an Alaskan kindred with thiamine-responsive megaloblastic anemia syndrome (TRMA; <a href="/entry/249270">249270</a>) studied by <a href="#7" class="mim-tip-reference" title="Neufeld, E. J., Mandel, H., Raz, T., Szargel, R., Yandava, C. N., Stagg, A., Faure, S., Barrett, T., Buist, N., Cohen, N. <strong>Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping.</strong> Am. J. Hum. Genet. 61: 1335-1341, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9399900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9399900</a>] [<a href="https://doi.org/10.1086/301642" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9399900">Neufeld et al. (1997)</a>, <a href="#3" class="mim-tip-reference" title="Fleming, J. C., Tartaglini, E., Steinkamp, M. P., Schorderet, D. F., Cohen, N., Neufeld, E. J. <strong>The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter.</strong> Nature Genet. 22: 305-308, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10391222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10391222</a>] [<a href="https://doi.org/10.1038/10379" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10391222">Fleming et al. (1999)</a> found a 1-bp (thymine) deletion at position 885 of the cDNA sequence of the SLC19A2 gene. The proband was homozygous for the deletion resulting in a frameshift and the introduction of a premature stop codon. In the heterozygotes, the reading frame was lost at position 885. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10391222+9399900" 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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<span class="mim-font">
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<strong>.0006 THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME</strong>
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SLC19A2, 2-BP DEL, 1147GT
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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> rs1401027751 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1401027751;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/rs1401027751?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=rs1401027751" 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=rs1401027751" 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=RCV000006324" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006324" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006324</a>
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<p>In a patient with thiamine-responsive megaloblastic anemia syndrome (TRMA; <a href="/entry/249270">249270</a>) from a Swiss-Kurdish kindred, <a href="#3" class="mim-tip-reference" title="Fleming, J. C., Tartaglini, E., Steinkamp, M. P., Schorderet, D. F., Cohen, N., Neufeld, E. J. <strong>The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter.</strong> Nature Genet. 22: 305-308, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10391222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10391222</a>] [<a href="https://doi.org/10.1038/10379" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10391222">Fleming et al. (1999)</a> found deletion of GT at positions 1147-1148 of the cDNA sequence of the SLC19A2 gene in homozygous state. The reading frame was lost at position 1148 in a heterozygote. The deletion resulted in a frameshift and immediate stop codon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10391222" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME</strong>
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SLC19A2, 1-BP INS, 242A
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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> rs752104654 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs752104654;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/rs752104654?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=rs752104654" 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=rs752104654" 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=RCV000006325 OR RCV003555938" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006325, RCV003555938" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006325...</a>
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<p>In affected members of an Iranian family with thiamine-responsive megaloblastic anemia syndrome (TRMA; <a href="/entry/249270">249270</a>), <a href="#1" class="mim-tip-reference" title="Diaz, G. A., Banikazemi, M., Oishi, K., Desnick, R. J., Gelb, B. D. <strong>Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome.</strong> Nature Genet. 22: 309-312, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10391223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10391223</a>] [<a href="https://doi.org/10.1038/10385" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10391223">Diaz et al. (1999)</a> found insertion of an adenine between nucleotide 242 and 243 in exon 2 of the SLC19A2 cDNA, introducing a stop codon at codon 52. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10391223" 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 id="0008" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0008 THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME</strong>
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SLC19A2, 2-BP DEL, 429TT
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1571537879 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1571537879;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=rs1571537879" 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=rs1571537879" 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=RCV000006326" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006326" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006326</a>
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<p>In affected members of an Iranian family with thiamine-responsive megaloblastic anemia syndrome (TRMA; <a href="/entry/249270">249270</a>), <a href="#1" class="mim-tip-reference" title="Diaz, G. A., Banikazemi, M., Oishi, K., Desnick, R. J., Gelb, B. D. <strong>Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome.</strong> Nature Genet. 22: 309-312, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10391223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10391223</a>] [<a href="https://doi.org/10.1038/10385" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10391223">Diaz et al. (1999)</a> identified a 2-bp deletion involving 429T and 430T of the SLC19A2 gene. Three affected members of the family were studied and found to be homozygous. Two sets of parents and 1 unaffected sib were heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10391223" 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>.0009 THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs74315375 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs74315375;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=rs74315375" 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=rs74315375" 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=RCV000006327" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006327" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006327</a>
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<p>In a girl with thiamine-responsive megaloblastic anemia syndrome (TRMA; <a href="/entry/249270">249270</a>), <a href="#11" class="mim-tip-reference" title="Scharfe, C., Hauschild, M., Klopstock, T., Janssen, A. J. M., Heidemann, P. H., Meitinger, T., Jaksch, M. <strong>A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I.</strong> J. Med. Genet. 37: 669-673, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10978358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10978358</a>] [<a href="https://doi.org/10.1136/jmg.37.9.669" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10978358">Scharfe et al. (2000)</a> reported a G-to-A transition at nucleotide 1074 in exon 4 of the SLC19A2 gene, resulting in a trp358-to-ter mutation. In addition to TRMA, the girl had short stature, hepatosplenomegaly, retinal degeneration, and a 2-cm lesion in the parietal lobe without any neurologic correlates. Biochemical analyses of muscle and skin biopsies before thiamine supplementation showed a severe deficiency of pyruvate dehydrogenase and complex I of the respiratory chain. These normalized after thiamine supplementation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10978358" 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>.0010 THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908540 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908540;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/rs121908540?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=rs121908540" 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=rs121908540" 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=RCV000006328 OR RCV003555939" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006328, RCV003555939" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006328...</a>
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<p>In an African American female with thiamine-responsive megaloblastic anemia syndrome (TRMA; <a href="/entry/249270">249270</a>) associated with thyroid disease and retinitis pigmentosa, <a href="#5" class="mim-tip-reference" title="Lagarde, W. H., Underwood, L. E., Moats-Staats, B. M., Calikoglu, A. S. <strong>Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome.</strong> Am. J. Med. Genet. 125A: 299-305, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14994241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14994241</a>] [<a href="https://doi.org/10.1002/ajmg.a.20506" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14994241">Lagarde et al. (2004)</a> identified a homozygous 152C-T transition in exon 1 of the SLC19A2 gene, resulting in a cys152-to-thr (C152T) mutation. The patient presented at 12 months of age with paroxysmal atrial tachycardia and hepatosplenomegaly. One month later, she developed diabetes mellitus requiring intermittent insulin therapy. At 2.5 years of age, profound sensorineural hearing loss was discovered. By 4 years of age, daily insulin therapy was instituted. She developed optic atrophy, retinitis pigmentosa, and visual impairment by 12 years of age with severe restriction of peripheral vision by 16 years. At age 19 years a thiamine-responsive normocytic anemia was discovered. A diagnosis of autoimmune thyroiditis was made at the age of 20 years. With oral thiamine therapy, her insulin requirement decreased. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14994241" 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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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="Diaz1999" class="mim-anchor"></a>
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Diaz, G. A., Banikazemi, M., Oishi, K., Desnick, R. J., Gelb, B. D.
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<strong>Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome.</strong>
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Nature Genet. 22: 309-312, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10391223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10391223</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10391223" 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/10.1038/10385" target="_blank">Full Text</a>]
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Dutta, B., Huang, W., Molero, M., Kekuda, R., Leibach, F. H., Devoe, L. D., Ganapathy, V., Prasad, P. D.
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<strong>Cloning of the human thiamine transporter, a member of the folate transporter family.</strong>
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J. Biol. Chem. 274: 31925-31929, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10542220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10542220</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10542220" 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.274.45.31925" target="_blank">Full Text</a>]
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<a id="Fleming1999" class="mim-anchor"></a>
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Fleming, J. C., Tartaglini, E., Steinkamp, M. P., Schorderet, D. F., Cohen, N., Neufeld, E. J.
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<strong>The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter.</strong>
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Nature Genet. 22: 305-308, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10391222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10391222</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10391222" 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/10.1038/10379" target="_blank">Full Text</a>]
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<a id="Labay1999" class="mim-anchor"></a>
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Labay, V., Raz, T., Baron, D., Mandel, H., Williams, H., Barrett, T., Szargel, R., McDonald, L., Shalata, A., Nosaka, K., Gregory, S., Cohen, N.
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<strong>Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness.</strong>
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Nature Genet. 22: 300-304, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10391221/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10391221</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10391221" 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/10.1038/10372" target="_blank">Full Text</a>]
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Lagarde, W. H., Underwood, L. E., Moats-Staats, B. M., Calikoglu, A. S.
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<strong>Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome.</strong>
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Am. J. Med. Genet. 125A: 299-305, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14994241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14994241</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14994241" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.20506" target="_blank">Full Text</a>]
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Liberman, M. C., Tartaglini, E., Fleming, J. C., Neufeld, E. J.
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<strong>Deletion of SLC19A2, the high affinity thiamine transporter, causes selective inner hair cell loss and an auditory neuropathy phenotype.</strong>
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J. Assoc. Res. Otolaryng. 7: 211-217, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16642288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16642288</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16642288[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16642288" 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/s10162-006-0035-x" target="_blank">Full Text</a>]
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<a id="Neufeld1997" class="mim-anchor"></a>
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Neufeld, E. J., Mandel, H., Raz, T., Szargel, R., Yandava, C. N., Stagg, A., Faure, S., Barrett, T., Buist, N., Cohen, N.
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<strong>Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping.</strong>
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Am. J. Hum. Genet. 61: 1335-1341, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9399900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9399900</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9399900" 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/10.1086/301642" target="_blank">Full Text</a>]
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<a id="Oishi2002" class="mim-anchor"></a>
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Oishi, K., Hofmann, S., Diaz, G. A., Brown, T., Manwani, D., Ng, L., Young, R., Vlassara, H., Ioannou, Y. A., Forrest, D., Gelb, B. D.
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<strong>Targeted disruption of Slc19a2, the gene encoding the high-affinity thiamin transporter Thtr-1, causes diabetes mellitus, sensorineural deafness and megaloblastosis in mice.</strong>
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Hum. Molec. Genet. 11: 2951-2960, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12393806/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12393806</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12393806" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Raz, T., Labay, V., Baron, D., Szargel, R., Anbinder, Y., Barrett, T., Rabl, W., Viana, M. B., Mandel, H., Baruchel, A., Cayuela, J.-M., Cohen, N.
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<strong>The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families.</strong>
|
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Hum. Mutat. 16: 37-43, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10874303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10874303</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10874303" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/1098-1004(200007)16:1<37::AID-HUMU7>3.0.CO;2-9" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="Reidling2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Reidling, J. C., Lambrecht, N., Kassir, M., Said, H. M.
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<strong>Impaired intestinal vitamin B1 (thiamin) uptake in thiamin transporter-2-deficient mice.</strong>
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Gastroenterology 138: 1802-1809, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19879271/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19879271</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19879271[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19879271" 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/10.1053/j.gastro.2009.10.042" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Scharfe2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Scharfe, C., Hauschild, M., Klopstock, T., Janssen, A. J. M., Heidemann, P. H., Meitinger, T., Jaksch, M.
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<strong>A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I.</strong>
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J. Med. Genet. 37: 669-673, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10978358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10978358</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10978358" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.37.9.669" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Subramanian2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Subramanian, V. S., Marchant, J. S., Parker, I., Said, H. M.
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<strong>Cell biology of the human thiamine transporter-1 (hTHTR1): intracellular trafficking and membrane targeting mechanisms.</strong>
|
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J. Biol. Chem. 278: 3976-3984, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12454006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12454006</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12454006" 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.M210717200" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Subramanya2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Subramanya, S. B., Subramanian, V. S., Sekar, V. T., Said, H. M.
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<strong>Thiamin uptake by pancreatic acinar cells: effect of chronic alcohol feeding/exposure.</strong>
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Am. J. Physiol. Gastrointest. Liver Physiol. 301: G896-G904, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21868632/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21868632</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21868632[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21868632" 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/10.1152/ajpgi.00308.2011" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 4/19/2012
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 4/17/2012<br>Cassandra L. Kniffin - updated : 2/8/2012<br>Victor A. McKusick - updated : 4/6/2004<br>George E. Tiller - updated : 3/30/2004<br>Michael J. Wright - updated : 8/9/2001<br>Victor A. McKusick - updated : 8/17/2000
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/29/1999
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</span>
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</div>
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<a id="editHistory" class="mim-anchor"></a>
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 02/22/2022
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</span>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 11/22/2017<br>carol : 09/15/2016<br>mgross : 05/25/2012<br>terry : 4/19/2012<br>terry : 4/19/2012<br>terry : 4/17/2012<br>carol : 2/10/2012<br>ckniffin : 2/8/2012<br>terry : 11/16/2006<br>wwang : 3/31/2006<br>terry : 4/5/2005<br>terry : 3/3/2005<br>tkritzer : 4/13/2004<br>terry : 4/6/2004<br>tkritzer : 3/30/2004<br>tkritzer : 3/30/2004<br>cwells : 11/12/2003<br>cwells : 8/16/2001<br>cwells : 8/13/2001<br>terry : 8/9/2001<br>terry : 8/9/2001<br>carol : 8/18/2000<br>carol : 8/18/2000<br>terry : 8/17/2000<br>alopez : 11/23/1999<br>alopez : 11/23/1999<br>alopez : 7/9/1999<br>alopez : 6/29/1999
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</span>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 603941
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</h3>
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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 19 (THIAMINE TRANSPORTER), MEMBER 2; SLC19A2
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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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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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THIAMINE TRANSPORTER PROTEIN 1; THTR1; THT1
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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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<strong><em>HGNC Approved Gene Symbol: SLC19A2</em></strong>
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</span>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 237617006;
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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: 1q24.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:169,463,909-169,485,970 </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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<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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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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<td rowspan="1">
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<span class="mim-font">
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1q24.2
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</td>
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<td>
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<span class="mim-font">
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Thiamine-responsive megaloblastic anemia 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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249270
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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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<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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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The SLC19A2 gene encodes a functional thiamine transporter (Fleming et al., 1999). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By positional cloning, Labay et al. (1999) identified the SLC19A2 gene within the critical region of the locus for thiamine-responsive megaloblastic anemia syndrome (TRMA; 249270) on chromosome 1q23.3. </p><p>Due to its homology with SLC19A1 (600424), a reduced folate carrier protein, Diaz et al. (1999) identified the SLC19A2 gene in the critical region 1q23.2-q23.3 and cloned the entire SLC19A2 coding region by screening a human fetal brain cDNA library. The SLC19A2 gene encodes a protein of 497 amino acids predicted to have 12 transmembrane domains. Northern blot analysis detected a 4-kb transcript in all tissues tested, most abundantly in skeletal and cardiac muscle. </p><p>Dutta et al. (1999) independently cloned SLC19A2, which they called THT1, from a placenta cDNA library. The deduced 497-amino acid protein has a calculated molecular mass of 55.4 kD. It contains 12 putative transmembrane domains, with cytosolic N and C termini. THT1 also has 2 N-glycosylation sites in putative extracellular domains, 3 phosphorylation sites in putative intracellular domains, and a 17-amino acid G protein-coupled receptor signature sequence. The THT1 protein shares 40% amino acid identity with the reduced folate transporter RFC1 (SLC19A1). Northern blot analysis detected variable expression of a 3.8-kb transcript in most tissues examined, with highest expression in skeletal muscle, followed by placenta, heart, liver, and kidney. </p><p>Subramanya et al. (2011) found expression of both the Slc19a2 and Slc19a3 genes in rat pancreatic acinar cells, with Slc19a2 showing higher expression. </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>Independently, Labay et al. (1999) and Dutta et al. (1999) found that the SLC19A2 gene contains 6 exons and spans approximately 22.5 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>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 assaying transfected HeLa cells, Dutta et al. (1999) showed that THT1 mediated thiamine transport. THT1 did not transport any other organic cation tested, and it did not transport any folate tested. Transport of thiamine by THT1 was independent of Na(+) and showed a pH optimum of 8.0 for recombinant THT1. In contrast, endogenous thiamine transport in HeLa cells kept increasing even when pH was increased to 8.5. </p><p>By transfecting fluorescence-tagged deletion constructs of SLC19A2 into epithelial cell lines, Subramanian et al. (2003) determined that the N-terminal domain and the sequence between transmembrane domain 6 and the C-terminal domain were required for proper plasma membrane targeting of SLC19A2. Inhibitor studies showed that SLC19A2 was transported to the plasma membrane via microtubule-based intracellular vesicles. </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>Diaz et al. (1999) mapped the SLC19A2 gene to chromosome 1q23.2-q23.3. </p>
|
|
</span>
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<div>
|
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<br />
|
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In all affected individuals in 6 families segregating thiamine-responsive megaloblastic anemia syndrome (TRMA), also known as thiamine metabolism dysfunction syndrome-1 (THMD1; 249270), Labay et al. (1999) identified homozygous mutations in the SLC19A2 gene (see, e.g., 603941.0001-603941.0004). </p><p>Fleming et al. (1999) used a candidate gene approach to identify putative thiamine transporters in the 1q23.3 critical region for TRMA and found mutations in the SLC19A2 gene in 2 families with TRMA, 1 Alaskan, studied by Neufeld et al. (1997), and 1 Turkish-Kurdish living in Switzerland (603941.0005 and 603941.0006). </p><p>Among 4 Iranian families with TRMA, Diaz et al. (1999) identified 2 frameshift mutations in exon 2, a 1-bp insertion and a 2-bp deletion, of the SLC19A2 gene (603941.0007-603941.0008). </p><p>Raz et al. (2000) summarized knowledge on mutations in the SLC19A2 gene in TRMA patients and identified 4 novel mutations. </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>To generate a mouse model of TRMA, Oishi et al. (2002) disrupted the Slc19a2 gene in mice by homologous recombination in embryonic stem cells. Erythrocytes from the null mice lacked the high-affinity component of thiamine transport. On a thiamine-free diet, null mice developed diabetes mellitus with reduced insulin (176730) secretion and an enhanced response to insulin. The diabetes mellitus resolved after 6 weeks of thiamine repletion. Auditory-evoked brainstem response thresholds were markedly elevated in null mice on a thiamine-free diet, but were normal in wildtype mice treated on that diet as well as thiamine-fed-null mice. Bone marrows from thiamine-deficient null mice were abnormal, with a megaloblastosis affecting the erythroid, myeloid, and megakaryocyte lines. </p><p>Liberman et al. (2006) found that Slc19a2-knockout mice on a low thiamine diet developed hearing loss, as shown by 40- to 60-dB threshold elevations on auditory brainstem response (ABR). However, there were only 10- to 20-dB elevations by otoacoustic emission (OAE) measures. Histologic studies showed selective loss of inner hair cells in the cochlea after 1 to 2 weeks on low thiamine. There was significantly greater inner than outer hair cell loss after a longer period of time. Wildtype mice on a low thiamine diet showed no hearing deficit. These results suggested that Slc19a2-null mice have an auditory neuropathy phenotype, in which cochlear neural responses are significantly more reduced than the reduction in cochlear amplifier function. The selective loss of inner hair cells was a rare type of sensorineural histopathology. </p><p>Reidling et al. (2010) found that Slc19a3 (606152)-null mice had reduced uptake of intestinal thiamine and decreased serum thiamine compared to wildtype mice. However, intestinal uptake of thiamine in Slc19a2-null mice was not significantly different from that of wildtype mice. Moreover, the level of expression of Slc19a2 was not altered in the intestine of Slc19a3-null mice, but the level of expression of Slc19a3 was upregulated in the intestine of Slc19a2-null mice, thus compensating for the defect. The findings suggested that Slc19a3 is required for normal uptake of thiamine in the intestine, and can fulfill normal levels of uptake in conditions associated with Slc19a2 dysfunction. </p><p>Subramanya et al. (2011) found expression of both the Slc19a2 and Slc19a3 (606152) genes in rat pancreatic acinar cells. Chronic alcohol feeding of rats resulted in significant inhibition of carrier-mediated thiamine uptake by pancreatic acinar cells, and was associated with a significant reduction in expression of Slc19a2 and Slc19a3 at the protein and mRNA levels. The results demonstrated that thiamine uptake by pancreatic acinar cells occurs through a carrier-mediated process, and that thiamine transporters are expressed in these cells. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<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>10 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 THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA 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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SLC19A2, ARG162TER
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<br />
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SNP: rs74315373,
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gnomAD: rs74315373,
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ClinVar: RCV000006319, RCV003555936
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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 Pakistani family and in a Japanese family, Labay et al. (1999) found that thiamine-responsive megaloblastic anemia syndrome (TRMA; 249270) was due to a homozygous 484C-T transition in exon 2 of the SLC19A2 gene predicted to cause an arg162-to-ter protein change. </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 THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA 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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SLC19A2, 1-BP DEL, 724C
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<br />
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SNP: rs1571537544,
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ClinVar: RCV000006320, RCV003555937
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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 affected members of 2 Israeli families with thiamine-responsive megaloblastic anemia syndrome (TRMA; 249270), Labay et al. (1999) found a homozygous 1-bp deletion (724delC) in exon 2 of the SLC19A2 gene, causing a frameshift at codon 242 and creating a stop at codon 259. </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 THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA 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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SLC19A2, GLY172ASP
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<br />
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SNP: rs28937595,
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gnomAD: rs28937595,
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ClinVar: RCV000006321, RCV000486790
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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 an Italian family, Labay et al. (1999) found a homozygous 515G-A transition in exon 2 of the SLC19A2 gene, predicting a gly172-to-asp amino acid change, as the cause of thiamine-responsive megaloblastic anemia (TRMA; 249270). </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">
|
|
<strong>.0004 THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA 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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SLC19A2, TRP250TER
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<br />
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SNP: rs74315374,
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gnomAD: rs74315374,
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ClinVar: RCV000006322, RCV002512828
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Indian family with thiamine-responsive megaloblastic anemia syndrome (TRMA; 249270), Labay et al. (1999) found a homozygous 750G-A transition in exon 2 of the SLC19A2 gene leading to a nonsense mutation, trp250 to ter, in the protein product. </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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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<div>
|
|
<span class="mim-text-font">
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|
|
SLC19A2, 1-BP DEL, 885T
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|
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<br />
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|
SNP: rs1571532822,
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|
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ClinVar: RCV000006323
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|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members from an Alaskan kindred with thiamine-responsive megaloblastic anemia syndrome (TRMA; 249270) studied by Neufeld et al. (1997), Fleming et al. (1999) found a 1-bp (thymine) deletion at position 885 of the cDNA sequence of the SLC19A2 gene. The proband was homozygous for the deletion resulting in a frameshift and the introduction of a premature stop codon. In the heterozygotes, the reading frame was lost at position 885. </p>
|
|
</span>
|
|
</div>
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|
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<div>
|
|
<br />
|
|
</div>
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|
|
</div>
|
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC19A2, 2-BP DEL, 1147GT
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1401027751,
|
|
|
|
|
|
gnomAD: rs1401027751,
|
|
|
|
|
|
ClinVar: RCV000006324
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with thiamine-responsive megaloblastic anemia syndrome (TRMA; 249270) from a Swiss-Kurdish kindred, Fleming et al. (1999) found deletion of GT at positions 1147-1148 of the cDNA sequence of the SLC19A2 gene in homozygous state. The reading frame was lost at position 1148 in a heterozygote. The deletion resulted in a frameshift and immediate stop codon. </p>
|
|
</span>
|
|
</div>
|
|
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|
<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC19A2, 1-BP INS, 242A
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs752104654,
|
|
|
|
|
|
gnomAD: rs752104654,
|
|
|
|
|
|
ClinVar: RCV000006325, RCV003555938
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of an Iranian family with thiamine-responsive megaloblastic anemia syndrome (TRMA; 249270), Diaz et al. (1999) found insertion of an adenine between nucleotide 242 and 243 in exon 2 of the SLC19A2 cDNA, introducing a stop codon at codon 52. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC19A2, 2-BP DEL, 429TT
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1571537879,
|
|
|
|
|
|
|
|
ClinVar: RCV000006326
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of an Iranian family with thiamine-responsive megaloblastic anemia syndrome (TRMA; 249270), Diaz et al. (1999) identified a 2-bp deletion involving 429T and 430T of the SLC19A2 gene. Three affected members of the family were studied and found to be homozygous. Two sets of parents and 1 unaffected sib were heterozygous for the mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
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|
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</div>
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC19A2, TRP358TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs74315375,
|
|
|
|
|
|
|
|
ClinVar: RCV000006327
|
|
|
|
|
|
</span>
|
|
</div>
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|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a girl with thiamine-responsive megaloblastic anemia syndrome (TRMA; 249270), Scharfe et al. (2000) reported a G-to-A transition at nucleotide 1074 in exon 4 of the SLC19A2 gene, resulting in a trp358-to-ter mutation. In addition to TRMA, the girl had short stature, hepatosplenomegaly, retinal degeneration, and a 2-cm lesion in the parietal lobe without any neurologic correlates. Biochemical analyses of muscle and skin biopsies before thiamine supplementation showed a severe deficiency of pyruvate dehydrogenase and complex I of the respiratory chain. These normalized after thiamine supplementation. </p>
|
|
</span>
|
|
</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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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
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<div>
|
|
<span class="mim-text-font">
|
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|
|
SLC19A2, CYS152THR
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<br />
|
|
|
|
SNP: rs121908540,
|
|
|
|
|
|
gnomAD: rs121908540,
|
|
|
|
|
|
ClinVar: RCV000006328, RCV003555939
|
|
|
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|
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</span>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In an African American female with thiamine-responsive megaloblastic anemia syndrome (TRMA; 249270) associated with thyroid disease and retinitis pigmentosa, Lagarde et al. (2004) identified a homozygous 152C-T transition in exon 1 of the SLC19A2 gene, resulting in a cys152-to-thr (C152T) mutation. The patient presented at 12 months of age with paroxysmal atrial tachycardia and hepatosplenomegaly. One month later, she developed diabetes mellitus requiring intermittent insulin therapy. At 2.5 years of age, profound sensorineural hearing loss was discovered. By 4 years of age, daily insulin therapy was instituted. She developed optic atrophy, retinitis pigmentosa, and visual impairment by 12 years of age with severe restriction of peripheral vision by 16 years. At age 19 years a thiamine-responsive normocytic anemia was discovered. A diagnosis of autoimmune thyroiditis was made at the age of 20 years. With oral thiamine therapy, her insulin requirement decreased. </p>
|
|
</span>
|
|
</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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Diaz, G. A., Banikazemi, M., Oishi, K., Desnick, R. J., Gelb, B. D.
|
|
<strong>Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome.</strong>
|
|
Nature Genet. 22: 309-312, 1999.
|
|
|
|
|
|
[PubMed: 10391223]
|
|
|
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|
|
[Full Text: https://doi.org/10.1038/10385]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dutta, B., Huang, W., Molero, M., Kekuda, R., Leibach, F. H., Devoe, L. D., Ganapathy, V., Prasad, P. D.
|
|
<strong>Cloning of the human thiamine transporter, a member of the folate transporter family.</strong>
|
|
J. Biol. Chem. 274: 31925-31929, 1999.
|
|
|
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|
|
[PubMed: 10542220]
|
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|
|
[Full Text: https://doi.org/10.1074/jbc.274.45.31925]
|
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
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|
Fleming, J. C., Tartaglini, E., Steinkamp, M. P., Schorderet, D. F., Cohen, N., Neufeld, E. J.
|
|
<strong>The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter.</strong>
|
|
Nature Genet. 22: 305-308, 1999.
|
|
|
|
|
|
[PubMed: 10391222]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/10379]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Labay, V., Raz, T., Baron, D., Mandel, H., Williams, H., Barrett, T., Szargel, R., McDonald, L., Shalata, A., Nosaka, K., Gregory, S., Cohen, N.
|
|
<strong>Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness.</strong>
|
|
Nature Genet. 22: 300-304, 1999.
|
|
|
|
|
|
[PubMed: 10391221]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/10372]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lagarde, W. H., Underwood, L. E., Moats-Staats, B. M., Calikoglu, A. S.
|
|
<strong>Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome.</strong>
|
|
Am. J. Med. Genet. 125A: 299-305, 2004.
|
|
|
|
|
|
[PubMed: 14994241]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.20506]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
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Liberman, M. C., Tartaglini, E., Fleming, J. C., Neufeld, E. J.
|
|
<strong>Deletion of SLC19A2, the high affinity thiamine transporter, causes selective inner hair cell loss and an auditory neuropathy phenotype.</strong>
|
|
J. Assoc. Res. Otolaryng. 7: 211-217, 2006.
|
|
|
|
|
|
[PubMed: 16642288]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s10162-006-0035-x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
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<p class="mim-text-font">
|
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Neufeld, E. J., Mandel, H., Raz, T., Szargel, R., Yandava, C. N., Stagg, A., Faure, S., Barrett, T., Buist, N., Cohen, N.
|
|
<strong>Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping.</strong>
|
|
Am. J. Hum. Genet. 61: 1335-1341, 1997.
|
|
|
|
|
|
[PubMed: 9399900]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/301642]
|
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</p>
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</li>
|
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|
<li>
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Oishi, K., Hofmann, S., Diaz, G. A., Brown, T., Manwani, D., Ng, L., Young, R., Vlassara, H., Ioannou, Y. A., Forrest, D., Gelb, B. D.
|
|
<strong>Targeted disruption of Slc19a2, the gene encoding the high-affinity thiamin transporter Thtr-1, causes diabetes mellitus, sensorineural deafness and megaloblastosis in mice.</strong>
|
|
Hum. Molec. Genet. 11: 2951-2960, 2002.
|
|
|
|
|
|
[PubMed: 12393806]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/11.23.2951]
|
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</p>
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</li>
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<li>
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Raz, T., Labay, V., Baron, D., Szargel, R., Anbinder, Y., Barrett, T., Rabl, W., Viana, M. B., Mandel, H., Baruchel, A., Cayuela, J.-M., Cohen, N.
|
|
<strong>The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families.</strong>
|
|
Hum. Mutat. 16: 37-43, 2000.
|
|
|
|
|
|
[PubMed: 10874303]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/1098-1004(200007)16:1<37::AID-HUMU7>3.0.CO;2-9]
|
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
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Reidling, J. C., Lambrecht, N., Kassir, M., Said, H. M.
|
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<strong>Impaired intestinal vitamin B1 (thiamin) uptake in thiamin transporter-2-deficient mice.</strong>
|
|
Gastroenterology 138: 1802-1809, 2010.
|
|
|
|
|
|
[PubMed: 19879271]
|
|
|
|
|
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[Full Text: https://doi.org/10.1053/j.gastro.2009.10.042]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Scharfe, C., Hauschild, M., Klopstock, T., Janssen, A. J. M., Heidemann, P. H., Meitinger, T., Jaksch, M.
|
|
<strong>A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I.</strong>
|
|
J. Med. Genet. 37: 669-673, 2000.
|
|
|
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|
|
[PubMed: 10978358]
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[Full Text: https://doi.org/10.1136/jmg.37.9.669]
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</p>
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</li>
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Subramanian, V. S., Marchant, J. S., Parker, I., Said, H. M.
|
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<strong>Cell biology of the human thiamine transporter-1 (hTHTR1): intracellular trafficking and membrane targeting mechanisms.</strong>
|
|
J. Biol. Chem. 278: 3976-3984, 2003.
|
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|
|
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[PubMed: 12454006]
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[Full Text: https://doi.org/10.1074/jbc.M210717200]
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</p>
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Subramanya, S. B., Subramanian, V. S., Sekar, V. T., Said, H. M.
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<strong>Thiamin uptake by pancreatic acinar cells: effect of chronic alcohol feeding/exposure.</strong>
|
|
Am. J. Physiol. Gastrointest. Liver Physiol. 301: G896-G904, 2011.
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[PubMed: 21868632]
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[Full Text: https://doi.org/10.1152/ajpgi.00308.2011]
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