2685 lines
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Entry
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- *607883 - SOLUTE CARRIER FAMILY 52 (RIBOFLAVIN TRANSPORTER), MEMBER 1; SLC52A1
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- OMIM
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<p>
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<span class="h4">*607883</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#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/607883">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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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000132517;t=ENST00000254853" 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=55065" 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=607883" 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=ENSG00000132517;t=ENST00000254853" 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_001104577,NM_017986,XM_011523951,XM_047436338,XM_047436339" 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_017986" 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=607883" 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=07432&isoform_id=07432_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/SLC52A1" 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/7021891,20152312,27447047,38511970,62204771,119610769,119610770,119610771,157388951,157388953,193784761,204022240,204022242,308153487,767992381,2217312666,2217312668,2462556249,2462556251,2462556253" 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/Q9NWF4" 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=55065" 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=ENSG00000132517;t=ENST00000254853" 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=SLC52A1" 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=SLC52A1" 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+55065" 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/SLC52A1" 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:55065" 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/55065" 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=chr17&hgg_gene=ENST00000254853.10&hgg_start=5032602&hgg_end=5042414&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:30225" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=607883[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=607883[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000132517" 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=SLC52A1" 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=SLC52A1" 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=SLC52A1" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=SLC52A1&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/PA134991217" 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:30225" 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/FBgn0039882.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:1289288" 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/SLC52A1#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:1289288" 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/55065/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=55065" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00021626;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00021626 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00044637;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00044637 </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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=SLC52A1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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607883
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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 52 (RIBOFLAVIN TRANSPORTER), MEMBER 1; SLC52A1
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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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G PROTEIN-COUPLED RECEPTOR 172B; GPR172B<br />
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G PROTEIN-COUPLED RECEPTOR 42; GPCR42<br />
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PORCINE ENDOGENOUS RETROVIRUS, SUBGROUP A, RECEPTOR 2; PAR2<br />
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PERV-A RECEPTOR 2<br />
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RIBOFLAVIN TRANSPORTER 1; RFT1; RFVT1<br />
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FLJ10060
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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=SLC52A1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SLC52A1</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/17/101?start=-3&limit=10&highlight=101">17p13.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr17:5032602-5042414&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'})">17:5,032,602-5,042,414</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
|
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<a href="/geneMap/17/101?start=-3&limit=10&highlight=101">
|
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17p13.2
|
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Riboflavin deficiency
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/615026"> 615026 </a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/607883" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/607883" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
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</span>
|
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</span>
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</h4>
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<div>
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
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<p>GPCR41 (<a href="/entry/607882">607882</a>) and GPCR42 act as receptors for porcine endogenous retrovirus subgroup A (PERV-A).</p><p>The water-soluble vitamin riboflavin is converted to the coenzymes flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD), and is essential for normal cellular functions. SLC52A1, or RFT1, is a transmembrane protein that mediates cellular uptake of riboflavin (summary by <a href="#6" class="mim-tip-reference" title="Yao, Y., Yonezawa, A., Yoshimatsu, H., Masuda, S., Katsura, T., Inui, K. <strong>Identification and comparative functional characterization of a new human riboflavin transporter hRFT3 expressed in the brain.</strong> J. Nutr. 140: 1220-1226, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20463145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20463145</a>] [<a href="https://doi.org/10.3945/jn.110.122911" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20463145">Yao et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20463145" 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 database screening for homologs of GPCR41, <a href="#2" class="mim-tip-reference" title="Ericsson, T. A., Takeuchi, Y., Templin, C., Quinn, G., Farhadian, S. F., Wood, J. C., Oldmixon, B. A., Suling, K. M., Ishii, J. K., Kitagawa, Y., Miyazawa, T., Salomon, D. R., Weiss, R. A., Patience, C. <strong>Identification of receptors for pig endogenous retrovirus.</strong> Proc. Nat. Acad. Sci. 100: 6759-6764, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12740431/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12740431</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12740431[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.1138025100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12740431">Ericsson et al. (2003)</a> identified GPCR42, which they designated PAR2. They cloned full-length PAR2 from a 293-cell cDNA library. The deduced 448-amino acid protein is a putative G protein-coupled receptor and contains 10 or 11 putative transmembrane regions similar to other gammaretrovirus receptors. PAR2 shares significant homology with PAR1 and with PAR proteins from baboon, pig, and mouse. Northern blot analysis using a probe that did not differentiate between PAR1 and PAR2 detected expression in all tissues examined, with the possible exception of bladder. Highest expression was in testis. RT-PCR detected PAR1 and PAR2 expression in peripheral blood mononuclear cells of 11 healthy volunteers. Confocal microscopy detected expression of fluorescence-tagged PAR2 at the plasma membrane and in the perinuclear region of transfected rabbit corneal fibroblasts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12740431" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using real-time PCR, <a href="#6" class="mim-tip-reference" title="Yao, Y., Yonezawa, A., Yoshimatsu, H., Masuda, S., Katsura, T., Inui, K. <strong>Identification and comparative functional characterization of a new human riboflavin transporter hRFT3 expressed in the brain.</strong> J. Nutr. 140: 1220-1226, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20463145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20463145</a>] [<a href="https://doi.org/10.3945/jn.110.122911" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20463145">Yao et al. (2010)</a> detected highly specific RFT1 expression in placenta. Much lower expression was detected in small intestine, thymus, and trachea, with little to none in other tissues examined. Fluorescence-tagged RFT1 was expressed in the plasma membrane of transfected HEK293 cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20463145" 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 genomic sequence analysis, <a href="#2" class="mim-tip-reference" title="Ericsson, T. A., Takeuchi, Y., Templin, C., Quinn, G., Farhadian, S. F., Wood, J. C., Oldmixon, B. A., Suling, K. M., Ishii, J. K., Kitagawa, Y., Miyazawa, T., Salomon, D. R., Weiss, R. A., Patience, C. <strong>Identification of receptors for pig endogenous retrovirus.</strong> Proc. Nat. Acad. Sci. 100: 6759-6764, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12740431/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12740431</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12740431[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.1138025100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12740431">Ericsson et al. (2003)</a> mapped the GPR172B gene to chromosome 17. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12740431" 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="Hartz, P. A. <strong>Personal Communication.</strong> Baltimore, Md. 7/11/2012."None>Hartz (2012)</a> mapped the SLC52A1 gene to chromosome 17p13.2 based on an alignment of the SLC52A1 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AK000922" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AK000922</a>) with the genomic sequence (GRCh37).</p>
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<p><a href="#2" class="mim-tip-reference" title="Ericsson, T. A., Takeuchi, Y., Templin, C., Quinn, G., Farhadian, S. F., Wood, J. C., Oldmixon, B. A., Suling, K. M., Ishii, J. K., Kitagawa, Y., Miyazawa, T., Salomon, D. R., Weiss, R. A., Patience, C. <strong>Identification of receptors for pig endogenous retrovirus.</strong> Proc. Nat. Acad. Sci. 100: 6759-6764, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12740431/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12740431</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12740431[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.1138025100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12740431">Ericsson et al. (2003)</a> determined that expression of PAR1 or PAR2 in transfected rabbit corneal fibroblasts and mouse NIH 3T3 fibroblasts mediated both the entry and the productive replication of PERV-A. Expression of PAR1 and PAR2 did not alter the sensitivity of the rabbit cells to PERV-B or -C. The results suggested that PAR2 may mediate a higher level of PERV infection than PAR1. <a href="#2" class="mim-tip-reference" title="Ericsson, T. A., Takeuchi, Y., Templin, C., Quinn, G., Farhadian, S. F., Wood, J. C., Oldmixon, B. A., Suling, K. M., Ishii, J. K., Kitagawa, Y., Miyazawa, T., Salomon, D. R., Weiss, R. A., Patience, C. <strong>Identification of receptors for pig endogenous retrovirus.</strong> Proc. Nat. Acad. Sci. 100: 6759-6764, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12740431/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12740431</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12740431[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.1138025100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12740431">Ericsson et al. (2003)</a> noted that the presence of these PERV-A receptors highlights a risk faced by xenotransplant recipients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12740431" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using transfected HEK293 cells, <a href="#6" class="mim-tip-reference" title="Yao, Y., Yonezawa, A., Yoshimatsu, H., Masuda, S., Katsura, T., Inui, K. <strong>Identification and comparative functional characterization of a new human riboflavin transporter hRFT3 expressed in the brain.</strong> J. Nutr. 140: 1220-1226, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20463145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20463145</a>] [<a href="https://doi.org/10.3945/jn.110.122911" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20463145">Yao et al. (2010)</a> showed that RFT1, RFT2 (SLC52A3; <a href="/entry/613350">613350</a>), and RFT3 (SLC52A2; <a href="/entry/607882">607882</a>) mediated uptake of radiolabeled riboflavin in a time- and concentration-dependent manner. All 3 transporters also mediated riboflavin uptake independent of extracellular Na+ and Cl-. RFT2, but not RFT1 or RFT3, showed reduced riboflavin uptake when extracellular pH was increased from 5.4 to 8.4. For all 3, radiolabeled riboflavin transport was completely inhibited by excess unlabeled riboflavin and lumiflavine, and modestly inhibited by FMN. FAD slightly but significantly inhibited RFT3-mediated riboflavin uptake. Little to no effect was observed with other riboflavin analogs, D-ribose, organic ions, or other vitamins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20463145" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a woman with riboflavin deficiency (RBFVD; <a href="/entry/615026">615026</a>) who had an infant with transient neonatal riboflavin deficiency (<a href="#1" class="mim-tip-reference" title="Chiong, M. A., Sim, K. G., Carpenter, K., Rhead, W., Ho, G., Olsen, R. K., Christodoulou, J. <strong>Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency.</strong> Molec. Genet. Metab. 92: 109-114, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17689999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17689999</a>] [<a href="https://doi.org/10.1016/j.ymgme.2007.06.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17689999">Chiong et al., 2007</a>), <a href="#4" class="mim-tip-reference" title="Ho, G., Yonezawa, A., Masuda, S., Inui, K., Sim, K. G., Carpenter, K., Olsen, R. K. J., Mitchell, J. J., Rhead, W. J., Peters, G., Christodoulou, J. <strong>Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B.</strong> Hum. Mutat. 32: E1976-E1984, 2011. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21089064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21089064</a>] [<a href="https://doi.org/10.1002/humu.21399" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21089064">Ho et al. (2011)</a> identified a de novo heterozygous 1.9-kb deletion within the SLC52A1 gene (<a href="#0001">607883.0001</a>), predicted to result in haploinsufficiency. The infant did not carry the deletion. These findings confirmed that the transient clinical and metabolic abnormalities in the infant were the result of maternal riboflavin deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17689999+21089064" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a child with transient neonatal riboflavin deficiency, <a href="#5" class="mim-tip-reference" title="Mosegaard, S., Bruun, G. H,, Flyvbjerg, K. F., Bliksrud, Y. T., Gregersen, N., Dembic, M., Annexstad, E., Tangeraas, T., Olsen, R. K. J., Andresen, B. S. <strong>An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.</strong> Molec. Genet. Metab. 122: 182-188, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29122468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29122468</a>] [<a href="https://doi.org/10.1016/j.ymgme.2017.10.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29122468">Mosegaard et al. (2017)</a> identified heterozygosity for an intronic mutation in the SLC52A1 gene (<a href="#0002">607883.0002</a>). Her mother, who was also heterozygous for the mutation, had experienced hyperemesis gravidarum and lost 20 kg during the pregnancy and had a low-normal riboflavin level (307 nmol/l; normal, 300-509 nmol/l). The father was not available for study. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29122468" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a woman with riboflavin deficiency (RBFVD; <a href="/entry/615026">615026</a>), <a href="#4" class="mim-tip-reference" title="Ho, G., Yonezawa, A., Masuda, S., Inui, K., Sim, K. G., Carpenter, K., Olsen, R. K. J., Mitchell, J. J., Rhead, W. J., Peters, G., Christodoulou, J. <strong>Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B.</strong> Hum. Mutat. 32: E1976-E1984, 2011. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21089064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21089064</a>] [<a href="https://doi.org/10.1002/humu.21399" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21089064">Ho et al. (2011)</a> identified a de novo heterozygous 1.9-kb deletion in the SLC52A1 gene, resulting in the deletion of exons 2 and 3 and predicted to cause haploinsufficiency. The woman was clinically asymptomatic, but showed biochemical evidence of riboflavin deficiency, manifest as increased serum acylcarnitines. She was originally ascertained (<a href="#1" class="mim-tip-reference" title="Chiong, M. A., Sim, K. G., Carpenter, K., Rhead, W., Ho, G., Olsen, R. K., Christodoulou, J. <strong>Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency.</strong> Molec. Genet. Metab. 92: 109-114, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17689999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17689999</a>] [<a href="https://doi.org/10.1016/j.ymgme.2007.06.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17689999">Chiong et al., 2007</a>) after her newborn daughter presented soon after birth with poor suck, hypoglycemia, and metabolic acidosis. The child had dicarboxylic aciduria and elevated plasma acylcarnitine levels, initially thought to be consistent with multiple acyl-CoA dehydrogenase deficiency (MADD; <a href="/entry/231680">231680</a>). Treatment with oral riboflavin resulted in complete resolution of the clinical and biochemical findings. The findings were consistent with transient neonatal riboflavin deficiency secondary to maternal riboflavin deficiency that was exacerbated during pregnancy. The infant did not carry the deletion. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17689999+21089064" 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>.0002 RIBOFLAVIN DEFICIENCY</strong>
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SLC52A1, IVS4DS, G-A, +11 (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs141935493;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs141935493</a>)
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs141935493 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs141935493;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/rs141935493?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=rs141935493" 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=rs141935493" 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=RCV002232202 OR RCV005091451" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002232202, RCV005091451" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002232202...</a>
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<p><a href="#5" class="mim-tip-reference" title="Mosegaard, S., Bruun, G. H,, Flyvbjerg, K. F., Bliksrud, Y. T., Gregersen, N., Dembic, M., Annexstad, E., Tangeraas, T., Olsen, R. K. J., Andresen, B. S. <strong>An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.</strong> Molec. Genet. Metab. 122: 182-188, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29122468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29122468</a>] [<a href="https://doi.org/10.1016/j.ymgme.2017.10.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29122468">Mosegaard et al. (2017)</a> reported a child with transient neonatal riboflavin deficiency (RBFVD; <a href="/entry/615026">615026</a>) who had an acylcarnitine profile consistent with multiple acyl-CoA carboxylase deficiency (MADD; <a href="/entry/231680">231680</a>). After excluding mutations in known genes associated with MADD, the authors identified heterozygosity for an intronic mutation (c.234+11G-A, NM_071986.3) in the SLC52A1 gene. The patient's mother, who was also heterozygous for the mutation, had experienced hyperemesis gravidarum and lost 20 kg during the pregnancy and had a low-normal riboflavin level (307 nmol/l; normal, 300-509 nmol/l). The father was not available for study. <a href="#5" class="mim-tip-reference" title="Mosegaard, S., Bruun, G. H,, Flyvbjerg, K. F., Bliksrud, Y. T., Gregersen, N., Dembic, M., Annexstad, E., Tangeraas, T., Olsen, R. K. J., Andresen, B. S. <strong>An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.</strong> Molec. Genet. Metab. 122: 182-188, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29122468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29122468</a>] [<a href="https://doi.org/10.1016/j.ymgme.2017.10.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29122468">Mosegaard et al. (2017)</a> demonstrated that the splicing factor HNRNPA1 (<a href="/entry/164017">164017</a>) binds the mutated sequence to a much higher degree than the wildtype sequence. Functional studies in HeLa and HEK293 cells showed that the variant and HNRNPA1 binding increased skipping of exon 4. The variant had a minor allele frequency of 0.2% in the ExAC database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29122468" 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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Chiong, M. A., Sim, K. G., Carpenter, K., Rhead, W., Ho, G., Olsen, R. K., Christodoulou, J.
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<strong>Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency.</strong>
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Molec. Genet. Metab. 92: 109-114, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17689999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17689999</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17689999" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ymgme.2007.06.017" target="_blank">Full Text</a>]
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Ericsson, T. A., Takeuchi, Y., Templin, C., Quinn, G., Farhadian, S. F., Wood, J. C., Oldmixon, B. A., Suling, K. M., Ishii, J. K., Kitagawa, Y., Miyazawa, T., Salomon, D. R., Weiss, R. A., Patience, C.
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<strong>Identification of receptors for pig endogenous retrovirus.</strong>
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Proc. Nat. Acad. Sci. 100: 6759-6764, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12740431/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12740431</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12740431[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=12740431" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.1138025100" target="_blank">Full Text</a>]
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Hartz, P. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 7/11/2012.
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Ho, G., Yonezawa, A., Masuda, S., Inui, K., Sim, K. G., Carpenter, K., Olsen, R. K. J., Mitchell, J. J., Rhead, W. J., Peters, G., Christodoulou, J.
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<strong>Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B.</strong>
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Hum. Mutat. 32: E1976-E1984, 2011. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21089064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21089064</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21089064" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Mosegaard, S., Bruun, G. H,, Flyvbjerg, K. F., Bliksrud, Y. T., Gregersen, N., Dembic, M., Annexstad, E., Tangeraas, T., Olsen, R. K. J., Andresen, B. S.
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<strong>An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.</strong>
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Molec. Genet. Metab. 122: 182-188, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29122468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29122468</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29122468" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Yao, Y., Yonezawa, A., Yoshimatsu, H., Masuda, S., Katsura, T., Inui, K.
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<strong>Identification and comparative functional characterization of a new human riboflavin transporter hRFT3 expressed in the brain.</strong>
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J. Nutr. 140: 1220-1226, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20463145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20463145</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20463145" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Ada Hamosh - updated : 01/30/2018
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Cassandra L. Kniffin - updated : 1/22/2013<br>Patricia A. Hartz - updated : 7/11/2012
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carol : 01/31/2018<br>carol : 01/30/2018<br>carol : 01/16/2014<br>ckniffin : 1/15/2014<br>carol : 3/15/2013<br>carol : 1/30/2013<br>ckniffin : 1/22/2013<br>alopez : 8/21/2012<br>terry : 7/11/2012<br>carol : 7/3/2012<br>alopez : 6/18/2007<br>terry : 6/28/2005<br>mgross : 6/13/2003
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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G PROTEIN-COUPLED RECEPTOR 172B; GPR172B<br />
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G PROTEIN-COUPLED RECEPTOR 42; GPCR42<br />
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PORCINE ENDOGENOUS RETROVIRUS, SUBGROUP A, RECEPTOR 2; PAR2<br />
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PERV-A RECEPTOR 2<br />
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RIBOFLAVIN TRANSPORTER 1; RFT1; RFVT1<br />
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FLJ10060
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: SLC52A1</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 17p13.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 17:5,032,602-5,042,414 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
|
|
Phenotype <br /> mapping key
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</th>
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</tr>
|
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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17p13.2
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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Riboflavin deficiency
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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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615026
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Autosomal dominant
|
|
</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
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</tr>
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</tbody>
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|
</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
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</h4>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
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|
</h4>
|
|
</div>
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<span class="mim-text-font">
|
|
<p>GPCR41 (607882) and GPCR42 act as receptors for porcine endogenous retrovirus subgroup A (PERV-A).</p><p>The water-soluble vitamin riboflavin is converted to the coenzymes flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD), and is essential for normal cellular functions. SLC52A1, or RFT1, is a transmembrane protein that mediates cellular uptake of riboflavin (summary by Yao et al., 2010). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
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</div>
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<div>
|
|
<h4>
|
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<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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|
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<span class="mim-text-font">
|
|
<p>By database screening for homologs of GPCR41, Ericsson et al. (2003) identified GPCR42, which they designated PAR2. They cloned full-length PAR2 from a 293-cell cDNA library. The deduced 448-amino acid protein is a putative G protein-coupled receptor and contains 10 or 11 putative transmembrane regions similar to other gammaretrovirus receptors. PAR2 shares significant homology with PAR1 and with PAR proteins from baboon, pig, and mouse. Northern blot analysis using a probe that did not differentiate between PAR1 and PAR2 detected expression in all tissues examined, with the possible exception of bladder. Highest expression was in testis. RT-PCR detected PAR1 and PAR2 expression in peripheral blood mononuclear cells of 11 healthy volunteers. Confocal microscopy detected expression of fluorescence-tagged PAR2 at the plasma membrane and in the perinuclear region of transfected rabbit corneal fibroblasts. </p><p>Using real-time PCR, Yao et al. (2010) detected highly specific RFT1 expression in placenta. Much lower expression was detected in small intestine, thymus, and trachea, with little to none in other tissues examined. Fluorescence-tagged RFT1 was expressed in the plasma membrane of transfected HEK293 cells. </p>
|
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</span>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
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</h4>
|
|
</div>
|
|
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|
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<span class="mim-text-font">
|
|
<p>By genomic sequence analysis, Ericsson et al. (2003) mapped the GPR172B gene to chromosome 17. </p><p>Hartz (2012) mapped the SLC52A1 gene to chromosome 17p13.2 based on an alignment of the SLC52A1 sequence (GenBank AK000922) with the genomic sequence (GRCh37).</p>
|
|
</span>
|
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<div>
|
|
<br />
|
|
</div>
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|
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|
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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<span class="mim-text-font">
|
|
<p>Ericsson et al. (2003) determined that expression of PAR1 or PAR2 in transfected rabbit corneal fibroblasts and mouse NIH 3T3 fibroblasts mediated both the entry and the productive replication of PERV-A. Expression of PAR1 and PAR2 did not alter the sensitivity of the rabbit cells to PERV-B or -C. The results suggested that PAR2 may mediate a higher level of PERV infection than PAR1. Ericsson et al. (2003) noted that the presence of these PERV-A receptors highlights a risk faced by xenotransplant recipients. </p><p>Using transfected HEK293 cells, Yao et al. (2010) showed that RFT1, RFT2 (SLC52A3; 613350), and RFT3 (SLC52A2; 607882) mediated uptake of radiolabeled riboflavin in a time- and concentration-dependent manner. All 3 transporters also mediated riboflavin uptake independent of extracellular Na+ and Cl-. RFT2, but not RFT1 or RFT3, showed reduced riboflavin uptake when extracellular pH was increased from 5.4 to 8.4. For all 3, radiolabeled riboflavin transport was completely inhibited by excess unlabeled riboflavin and lumiflavine, and modestly inhibited by FMN. FAD slightly but significantly inhibited RFT3-mediated riboflavin uptake. Little to no effect was observed with other riboflavin analogs, D-ribose, organic ions, or other vitamins. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In a woman with riboflavin deficiency (RBFVD; 615026) who had an infant with transient neonatal riboflavin deficiency (Chiong et al., 2007), Ho et al. (2011) identified a de novo heterozygous 1.9-kb deletion within the SLC52A1 gene (607883.0001), predicted to result in haploinsufficiency. The infant did not carry the deletion. These findings confirmed that the transient clinical and metabolic abnormalities in the infant were the result of maternal riboflavin deficiency. </p><p>In a child with transient neonatal riboflavin deficiency, Mosegaard et al. (2017) identified heterozygosity for an intronic mutation in the SLC52A1 gene (607883.0002). Her mother, who was also heterozygous for the mutation, had experienced hyperemesis gravidarum and lost 20 kg during the pregnancy and had a low-normal riboflavin level (307 nmol/l; normal, 300-509 nmol/l). The father was not available for study. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>2 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 RIBOFLAVIN DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC52A1, 1.9-KB DEL
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV004576915
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a woman with riboflavin deficiency (RBFVD; 615026), Ho et al. (2011) identified a de novo heterozygous 1.9-kb deletion in the SLC52A1 gene, resulting in the deletion of exons 2 and 3 and predicted to cause haploinsufficiency. The woman was clinically asymptomatic, but showed biochemical evidence of riboflavin deficiency, manifest as increased serum acylcarnitines. She was originally ascertained (Chiong et al., 2007) after her newborn daughter presented soon after birth with poor suck, hypoglycemia, and metabolic acidosis. The child had dicarboxylic aciduria and elevated plasma acylcarnitine levels, initially thought to be consistent with multiple acyl-CoA dehydrogenase deficiency (MADD; 231680). Treatment with oral riboflavin resulted in complete resolution of the clinical and biochemical findings. The findings were consistent with transient neonatal riboflavin deficiency secondary to maternal riboflavin deficiency that was exacerbated during pregnancy. The infant did not carry the deletion. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 RIBOFLAVIN DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC52A1, IVS4DS, G-A, +11 ({dbSNP rs141935493})
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs141935493,
|
|
|
|
|
|
gnomAD: rs141935493,
|
|
|
|
|
|
ClinVar: RCV002232202, RCV005091451
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Mosegaard et al. (2017) reported a child with transient neonatal riboflavin deficiency (RBFVD; 615026) who had an acylcarnitine profile consistent with multiple acyl-CoA carboxylase deficiency (MADD; 231680). After excluding mutations in known genes associated with MADD, the authors identified heterozygosity for an intronic mutation (c.234+11G-A, NM_071986.3) in the SLC52A1 gene. The patient's mother, who was also heterozygous for the mutation, had experienced hyperemesis gravidarum and lost 20 kg during the pregnancy and had a low-normal riboflavin level (307 nmol/l; normal, 300-509 nmol/l). The father was not available for study. Mosegaard et al. (2017) demonstrated that the splicing factor HNRNPA1 (164017) binds the mutated sequence to a much higher degree than the wildtype sequence. Functional studies in HeLa and HEK293 cells showed that the variant and HNRNPA1 binding increased skipping of exon 4. The variant had a minor allele frequency of 0.2% in the ExAC database. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</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">
|
|
Chiong, M. A., Sim, K. G., Carpenter, K., Rhead, W., Ho, G., Olsen, R. K., Christodoulou, J.
|
|
<strong>Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency.</strong>
|
|
Molec. Genet. Metab. 92: 109-114, 2007.
|
|
|
|
|
|
[PubMed: 17689999]
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|
|
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|
|
[Full Text: https://doi.org/10.1016/j.ymgme.2007.06.017]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ericsson, T. A., Takeuchi, Y., Templin, C., Quinn, G., Farhadian, S. F., Wood, J. C., Oldmixon, B. A., Suling, K. M., Ishii, J. K., Kitagawa, Y., Miyazawa, T., Salomon, D. R., Weiss, R. A., Patience, C.
|
|
<strong>Identification of receptors for pig endogenous retrovirus.</strong>
|
|
Proc. Nat. Acad. Sci. 100: 6759-6764, 2003.
|
|
|
|
|
|
[PubMed: 12740431]
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|
|
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|
|
[Full Text: https://doi.org/10.1073/pnas.1138025100]
|
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hartz, P. A.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 7/11/2012.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ho, G., Yonezawa, A., Masuda, S., Inui, K., Sim, K. G., Carpenter, K., Olsen, R. K. J., Mitchell, J. J., Rhead, W. J., Peters, G., Christodoulou, J.
|
|
<strong>Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B.</strong>
|
|
Hum. Mutat. 32: E1976-E1984, 2011. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: 21089064]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/humu.21399]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mosegaard, S., Bruun, G. H,, Flyvbjerg, K. F., Bliksrud, Y. T., Gregersen, N., Dembic, M., Annexstad, E., Tangeraas, T., Olsen, R. K. J., Andresen, B. S.
|
|
<strong>An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.</strong>
|
|
Molec. Genet. Metab. 122: 182-188, 2017.
|
|
|
|
|
|
[PubMed: 29122468]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ymgme.2017.10.014]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Yao, Y., Yonezawa, A., Yoshimatsu, H., Masuda, S., Katsura, T., Inui, K.
|
|
<strong>Identification and comparative functional characterization of a new human riboflavin transporter hRFT3 expressed in the brain.</strong>
|
|
J. Nutr. 140: 1220-1226, 2010.
|
|
|
|
|
|
[PubMed: 20463145]
|
|
|
|
|
|
[Full Text: https://doi.org/10.3945/jn.110.122911]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
|
</div>
|
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|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Ada Hamosh - updated : 01/30/2018<br>Cassandra L. Kniffin - updated : 1/22/2013<br>Patricia A. Hartz - updated : 7/11/2012
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Patricia A. Hartz : 6/13/2003
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Edit History:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
carol : 03/07/2018<br>carol : 01/31/2018<br>carol : 01/30/2018<br>carol : 01/16/2014<br>ckniffin : 1/15/2014<br>carol : 3/15/2013<br>carol : 1/30/2013<br>ckniffin : 1/22/2013<br>alopez : 8/21/2012<br>terry : 7/11/2012<br>carol : 7/3/2012<br>alopez : 6/18/2007<br>terry : 6/28/2005<br>mgross : 6/13/2003
|
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</span>
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