3489 lines
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Entry
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- *607882 - SOLUTE CARRIER FAMILY 52 (RIBOFLAVIN TRANSPORTER), MEMBER 2; SLC52A2
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- OMIM
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<div class="row">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*607882</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
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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>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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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="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/607882">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000185803;t=ENST00000643944" 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=79581" 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=607882" 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=ENSG00000185803;t=ENST00000643944" 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_001253815,NM_001253816,NM_001363118,NM_001363120,NM_001363121,NM_001363122,NM_001410949,NM_024531,NR_045600,XM_017013821,XM_017013822,XM_047422213,XM_047422214,XM_047422215,XM_047422216,XM_047422217" 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_001363118" 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=607882" 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=07431&isoform_id=07431_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/SLC52A2" 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/10433215,12804129,13375682,14042890,17382275,20152310,27447045,40033543,40035780,74734171,119602521,119602522,158256594,194383598,346456692,359465547,359465549,1034661492,1034661494,1387629696,1387629698,1387629700,1387629702,2217373171,2217373173,2217373175,2217373179,2217373181,2287780769,2462497098,2462497100,2462497102,2462497104,2462497106,2462497108,2462497110,2462620992,2462620994,2462620996,2462620998,2462621000,2462621002,2462621004" 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/Q9HAB3" 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=79581" 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=ENSG00000185803;t=ENST00000643944" 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=SLC52A2" 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=SLC52A2" 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+79581" 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/SLC52A2" 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:79581" 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/79581" 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=chr8&hgg_gene=ENST00000643944.2&hgg_start=144358552&hgg_end=144361272&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:30224" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/slc52a2" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=607882[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=607882[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/SLC52A2/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000185803" 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=SLC52A2" 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=SLC52A2" 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=SLC52A2" 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=SLC52A2&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/PA134982935" 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:30224" 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/SLC52A2#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/79581/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=79581" 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><a href="https://zfin.org/ZDB-GENE-030131-2552" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=SLC52A2&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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607882
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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 2; SLC52A2
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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>
|
|
<span class="mim-font">
|
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G PROTEIN-COUPLED RECEPTOR 172A; GPR172A<br />
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G PROTEIN-COUPLED RECEPTOR 41; GPCR41<br />
|
|
PORCINE ENDOGENOUS RETROVIRUS, SUBGROUP A, RECEPTOR 1; PAR1<br />
|
|
PERV-A RECEPTOR 1<br />
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RIBOFLAVIN TRANSPORTER 3; RFT3<br />
|
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RFVT2<br />
|
|
FLJ11856
|
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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=SLC52A2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SLC52A2</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>
|
|
Cytogenetic location: <a href="/geneMap/8/639?start=-3&limit=10&highlight=639">8q24.3</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr8:144358552-144361272&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'})">8:144,358,552-144,361,272</a> </span>
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</em>
|
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</strong>
|
|
<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>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/8/639?start=-3&limit=10&highlight=639">
|
|
8q24.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Brown-Vialetto-Van Laere syndrome 2
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/614707"> 614707 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<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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<p>SLC52A2 (RFT3, RFVT2) is a transmembrane protein that mediates cellular uptake of riboflavin. 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 (summary by <a href="#11" 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>GPCR41 and GPCR42 (<a href="/entry/607883">607883</a>) act as receptors for porcine endogenous retrovirus subgroup A (PERV-A). <a href="#3" 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 a HeLa cell cDNA encoding GPCR41, which they designated PAR1, based on its ability to confer PERV-A infectivity in a resistant rabbit cell line. They obtained the full-length clone by rescreening the HeLa cell cDNA library. The deduced 445-amino acid protein is a putative G protein-coupled receptor and contains 10 or 11 putative transmembrane regions similar to other gammaretrovirus receptors. PAR1 shares significant homology with PAR2 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. <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>By searching a human database for sequences similar to RFT1 (SLC52A1; <a href="/entry/607883">607883</a>), followed by RT-PCR of human small intestine total RNA, <a href="#11" 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> cloned SLC52A2, which they called RFT3. The deduced 445-amino acid protein has 10 putative transmembrane domains and shares 86.7% and 44.1% identity with RFT1 and RFT2 (SLC52A3; <a href="/entry/613350">613350</a>), respectively. Real-time PCR detected variable RFT3 expression in all tissues examined, with highest expression in adult and fetal whole brain, followed by salivary gland. Fluorescence-tagged RFT3 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><a href="#3" 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="#3" 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="#11" 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, and RFT3 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><a href="#3" 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 the PAR1 gene contains at least 3 exons. <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>
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<p>By genomic sequence analysis, <a href="#3" 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 PAR1 gene to chromosome 8. <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="#7" class="mim-tip-reference" title="Hartz, P. A. <strong>Personal Communication.</strong> Baltimore, Md. 7/11/2012."None>Hartz (2012)</a> mapped the SLC52A2 gene to chromosome 8q24.3 based on an alignment of the SLC52A2 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AK021918" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AK021918</a>) with the genomic sequence (GRCh37).</p>
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<p>In affected members of a large consanguineous Lebanese family with severe Brown-Vialetto-Van Laere syndrome-2 (BVVLS2; <a href="/entry/614707">614707</a>), <a href="#8" class="mim-tip-reference" title="Johnson, J. O., Gibbs, J. R., Megarbane, A., Urtizberea, J. A., Hernandez, D. G., Foley, A. R., Arepalli, S., Pandraud, A., Simon-Sanchez, J., Clayton, P., Reilly, M. M., Muntoni, F., Abramzon, Y., Houlden, H., Singleton, A. B. <strong>Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.</strong> Brain 135: 2875-2882, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22740598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22740598</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22740598[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/aws161" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22740598">Johnson et al. (2012)</a> identified a homozygous mutation in the SLC52A2 gene (G306R; <a href="#0001">607882.0001</a>). A Scottish girl with the disorder was also found to be homozygous for the G306R mutation; she was the only child from a cohort of 44 patients with childhood motor neuron disease who carried an SLC52A2 mutation, suggesting that such defects are rare. The phenotype was characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting resulting in respiratory insufficiency and loss of independent ambulation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22740598" 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 girl with BVVLS2, <a href="#6" class="mim-tip-reference" title="Haack, T. B., Makowski, C., Yao, Y., Graf, E., Hempel, M., Wieland, T., Tauer, U., Ahting, U., Mayr, J. A., Freisinger, P., Yoshimatsu, H., Inui, K., Strom, T. M., Meitinger, T., Yonezawa, A., Prokisch, H. <strong>Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.</strong> J. Inherit. Metab. Dis. 35: 943-948, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22864630/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22864630</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22864630[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1007/s10545-012-9513-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22864630">Haack et al. (2012)</a> identified compound heterozygous mutations in the SLC52A2 gene (<a href="#0002">607882.0002</a> and <a href="#0003">607882.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22864630" 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 boy with severe early-onset BVVLS2 resulting in death at age 3, <a href="#1" class="mim-tip-reference" title="Ciccolella, M., Corti, S., Catteruccia, M., Petrini, S., Tozzi, F., Rizza, T., Carrozzo, R., Nizzardo, M., Bordoni, A., Ronchi, D., D'Amico, A., Rizzo, C., Comi, G. P., Bertini, E. <strong>Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations.</strong> J. Med. Genet. 50: 104-107, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23243084/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23243084</a>] [<a href="https://doi.org/10.1136/jmedgenet-2012-101204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23243084">Ciccolella et al. (2013)</a> identified compound heterozygous mutations in the SLC52A2 gene (<a href="#0004">607882.0004</a>-<a href="#0005">607882.0005</a>). Each of the unaffected parents was heterozygous for 1 of the mutations. Patient cells showed significantly decreased riboflavin transport (about 29%) compared to controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23243084" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By Sanger sequencing of the SLC52A2 gene in 78 patients of various origins with a phenotype of cranial neuropathies and sensorimotor neuropathy with or without respiratory insufficiency from 21 medical centers <a href="#4" class="mim-tip-reference" title="Foley, A. R., Menezes, M. P., Pandraud, A., Gonzalez, M. A., Al-Odaib, A., Abrams, A. J., Sugano, K., Yonezawa, A., Manzur, A. Y., Burns, J., Hughes, I., McCullagh, B. G., and 42 others. <strong>Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.</strong> Brain 137: 44-56, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24253200/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24253200</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24253200[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awt315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24253200">Foley et al. (2014)</a> identified 8 different biallelic mutations (see, e.g., <a href="#0001">607882.0001</a>; <a href="#0003">607882.0003</a>; <a href="#0006">607882.0006</a>-<a href="#0007">607882.0007</a>) in 13 probands (including the Scottish patient previously reported by <a href="#8" class="mim-tip-reference" title="Johnson, J. O., Gibbs, J. R., Megarbane, A., Urtizberea, J. A., Hernandez, D. G., Foley, A. R., Arepalli, S., Pandraud, A., Simon-Sanchez, J., Clayton, P., Reilly, M. M., Muntoni, F., Abramzon, Y., Houlden, H., Singleton, A. B. <strong>Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.</strong> Brain 135: 2875-2882, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22740598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22740598</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22740598[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/aws161" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22740598">Johnson et al., 2012</a>) and 5 affected family members. The most common mutation was G306R, which was found in homozygous state in 3 Lebanese families and in compound heterozygous state in 2 families and 3 singleton patients. In vitro functional expression studies showed that the mutations caused reduced or absent riboflavin uptake and reduced riboflavin transporter protein expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=24253200+22740598" 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 study of 1,751 knockout alleles created by the International Mouse Phenotyping Consortium (IMPC), <a href="#2" class="mim-tip-reference" title="Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others. <strong>High-throughput discovery of novel developmental phenotypes.</strong> Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27626380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27626380</a>] [<a href="https://doi.org/10.1038/nature19356" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27626380">Dickinson et al. (2016)</a> found that knockout of the mouse homolog of human SLC52A2 is homozygous-lethal (defined as absence of homozygous mice after screening of at least 28 pups before weaning). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27626380" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Meehan, T. F., Conte, N., West, D. B., Jacobsen, J. O., Mason, J., Warren, J., Chen, C.-K., Tudose, I., Relac, M., Matthews, P., Karp, N., Santos, L., and 52 others. <strong>Disease model discovery from 3,328 gene knockouts by the International Mouse Phenotyping Consortium.</strong> Nature Genet. 49: 1231-1238, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28650483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28650483</a>] [<a href="https://doi.org/10.1038/ng.3901" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28650483">Meehan et al. (2017)</a> reported that knockout of Slc52a2 in mice caused increased or absent threshold for auditory brainstem response. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28650483" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=607882[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs398124641 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398124641;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/rs398124641?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=rs398124641" 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=rs398124641" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of a large consanguineous Lebanese family with severe Brown-Vialetto-Van Laere syndrome-2 (BVVLS2; <a href="/entry/614707">614707</a>) originally reported by <a href="#10" class="mim-tip-reference" title="Megarbane, A., Desguerres, I., Rizkallah, E., Delague, V., Nabbout, R., Barois, A., Urtizberea, A. <strong>Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: confirmation of autosomal recessive inheritance?</strong> Am. J. Med. Genet. 92: 117-121, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10797435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10797435</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(20000515)92:2<117::aid-ajmg7>3.0.co;2-c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10797435">Megarbane et al. (2000)</a>, <a href="#8" class="mim-tip-reference" title="Johnson, J. O., Gibbs, J. R., Megarbane, A., Urtizberea, J. A., Hernandez, D. G., Foley, A. R., Arepalli, S., Pandraud, A., Simon-Sanchez, J., Clayton, P., Reilly, M. M., Muntoni, F., Abramzon, Y., Houlden, H., Singleton, A. B. <strong>Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.</strong> Brain 135: 2875-2882, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22740598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22740598</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22740598[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/aws161" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22740598">Johnson et al. (2012)</a> identified a homozygous 916G-A transition in exon 3 of the SLC52A2 gene, resulting in a gly306-to-arg (G306R) substitution at a highly conserved residue. The mutation was identified by autozygosity mapping followed by exome sequencing, and was not found in 1,400 control chromosomes. A Scottish girl with the disorder was also found to be homozygous for the G306R mutation; she was the only child from a cohort of 44 patients with childhood motor neuron disease who carried an SLC52A2 mutation, suggesting that such defects are rare. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10797435+22740598" 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="#4" class="mim-tip-reference" title="Foley, A. R., Menezes, M. P., Pandraud, A., Gonzalez, M. A., Al-Odaib, A., Abrams, A. J., Sugano, K., Yonezawa, A., Manzur, A. Y., Burns, J., Hughes, I., McCullagh, B. G., and 42 others. <strong>Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.</strong> Brain 137: 44-56, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24253200/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24253200</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24253200[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awt315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24253200">Foley et al. (2014)</a> found that the G306R mutation was the most common mutation in their series of 13 probands with BVVLS2. Three families of Lebanese origin carried G306R in the homozygous state, suggesting a founder effect, whereas affected members of 2 additional families and 3 singleton patients carried it in compound heterozygosity with another pathogenic SLC52A2 mutation (see, e.g., L339P, <a href="#0003">607882.0003</a>; A284D, <a href="#0006">607882.0006</a>; and Y305C, <a href="#0007">607882.0007</a>). In vitro cellular expression studies showed that the G306R mutation caused a moderate but significant reduction in riboflavin uptake and a decrease in SLC52A2 protein expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24253200" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000032776 OR RCV004755753" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000032776, RCV004755753" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000032776...</a>
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<p>In a girl with Brown-Vialetto-Van Laere syndrome-2 (BVVLS2; <a href="/entry/614707">614707</a>), <a href="#6" class="mim-tip-reference" title="Haack, T. B., Makowski, C., Yao, Y., Graf, E., Hempel, M., Wieland, T., Tauer, U., Ahting, U., Mayr, J. A., Freisinger, P., Yoshimatsu, H., Inui, K., Strom, T. M., Meitinger, T., Yonezawa, A., Prokisch, H. <strong>Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.</strong> J. Inherit. Metab. Dis. 35: 943-948, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22864630/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22864630</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22864630[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1007/s10545-012-9513-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22864630">Haack et al. (2012)</a> identified compound heterozygous mutations in the SLC52A2 gene: a 368T-C transition resulting in a leu123-to-pro (L123P) substitution, and a 1016T-C transition resulting in a leu339-to-pro (L339P; <a href="#0003">607882.0003</a>) substitution. Both mutations occurred at highly conserved residues. The mutations were found by exome sequencing and confirmed by Sanger sequencing. The 368T-C transition was absent from public SNP databases, but 1016T-C was found 3 times in the heterozygous state in 5,375 control exomes. Each unaffected parent was heterozygous for 1 of the mutations. Transfection of the mutations in HEK293 cells showed that both caused a significant decrease in SLC52A2 transporter activity compared to wildtype. At age 3 years, the patient presented with hearing impairment, progressive optic atrophy, and severe ataxia. Laboratory studies showed increased levels of several acylcarnitine and hydroxy-acylcarnitine species. Oral riboflavin supplementation resulted in improved fine motor skills and assisted gait and normalization of laboratory values. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22864630" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs148234606 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs148234606;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/rs148234606?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=rs148234606" 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=rs148234606" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the leu339-to-pro (L339P) mutation in the SLC52A2 gene that was found in compound heterozygous state in a patient with Brown-Vialetto-Van Laere syndrome-2 (BVVLS2; <a href="/entry/614707">614707</a>) by <a href="#6" class="mim-tip-reference" title="Haack, T. B., Makowski, C., Yao, Y., Graf, E., Hempel, M., Wieland, T., Tauer, U., Ahting, U., Mayr, J. A., Freisinger, P., Yoshimatsu, H., Inui, K., Strom, T. M., Meitinger, T., Yonezawa, A., Prokisch, H. <strong>Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.</strong> J. Inherit. Metab. Dis. 35: 943-948, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22864630/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22864630</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22864630[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1007/s10545-012-9513-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22864630">Haack et al. (2012)</a>, see <a href="#0002">607882.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22864630" 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="#4" class="mim-tip-reference" title="Foley, A. R., Menezes, M. P., Pandraud, A., Gonzalez, M. A., Al-Odaib, A., Abrams, A. J., Sugano, K., Yonezawa, A., Manzur, A. Y., Burns, J., Hughes, I., McCullagh, B. G., and 42 others. <strong>Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.</strong> Brain 137: 44-56, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24253200/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24253200</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24253200[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awt315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24253200">Foley et al. (2014)</a> found the L339P mutation in compound heterozygosity with a G306R mutation (<a href="#0001">607882.0001</a>). In vitro cellular expression studies by <a href="#4" class="mim-tip-reference" title="Foley, A. R., Menezes, M. P., Pandraud, A., Gonzalez, M. A., Al-Odaib, A., Abrams, A. J., Sugano, K., Yonezawa, A., Manzur, A. Y., Burns, J., Hughes, I., McCullagh, B. G., and 42 others. <strong>Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.</strong> Brain 137: 44-56, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24253200/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24253200</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24253200[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awt315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24253200">Foley et al. (2014)</a> indicated that the L339P mutation completely abolished riboflavin uptake and caused a decrease in SLC52A2 protein expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24253200" 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>This variant is also referred to as c.968T-C, resulting in a leu323-to-pro substitution, based on a different SLC52A2 sequence (c.968T-C, NM_024531.4) (<a href="#5" class="mim-tip-reference" title="Gorcenco, S., Vaz, F. M., Tracewska-Siemiatkowska, A., Tranebjaerg, L., Cremers, F. P. M., Ygland, E., Kicsi, J., Rendtorff, N. D. Moller, C., Kjellstrom, U., Andreasson, S., Puschmann, A. <strong>Oral therapy for riboflavin transporter deficiency--what is the regimen of choice?</strong> Parkinsonism Relat. Disord. 61: 245-247, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30343981/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30343981</a>] [<a href="https://doi.org/10.1016/j.parkreldis.2018.10.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30343981">Gorcenco et al., 2019</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30343981" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs397514657 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397514657;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/rs397514657?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=rs397514657" 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=rs397514657" 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=RCV000033238 OR RCV000236548" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000033238, RCV000236548" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000033238...</a>
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<p>In a 3-year-old boy with severe, early-onset fatal Brown-Vialetto-Van Laere syndrome-2 (BVVLS2; <a href="/entry/614707">614707</a>), <a href="#1" class="mim-tip-reference" title="Ciccolella, M., Corti, S., Catteruccia, M., Petrini, S., Tozzi, F., Rizza, T., Carrozzo, R., Nizzardo, M., Bordoni, A., Ronchi, D., D'Amico, A., Rizzo, C., Comi, G. P., Bertini, E. <strong>Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations.</strong> J. Med. Genet. 50: 104-107, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23243084/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23243084</a>] [<a href="https://doi.org/10.1136/jmedgenet-2012-101204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23243084">Ciccolella et al. (2013)</a> identified compound heterozygosity for 2 mutations in the SLC52A2 gene: a 155C-T transition, resulting in a ser52-to-phe (S52F) substitution, and a 1255G-A transition resulting in a gly419-to-ser (G419S) (<a href="#0005">607882.0005</a>) substitution. Both mutations occurred at highly conserved residues. Each unaffected parent was heterozygous for 1 of the mutations, and neither mutation was found in 200 control chromosomes or in 10,000 control exomes. Patient cells showed significantly decreased RFT3 mRNA (45%), lack of RFT3 protein, and decreased riboflavin transport (29%) compared to controls. Patient cells also showed no detectable RFT1 protein (SLC52A1; <a href="/entry/607883">607883</a>). Fibroblasts from the father, who carried the S52F mutation, showed decreased RFT3 mRNA levels, at about 48% of controls, whereas mRNA levels in the mother were normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23243084" 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>For discussion of the gly419-to-ser (G419S) mutation in the SLC52A2 gene that was found in compound heterozygous state in a patient with Brown-Vialetto-Van Laere syndrome-2 (BVVLS2; <a href="/entry/614707">614707</a>) by <a href="#1" class="mim-tip-reference" title="Ciccolella, M., Corti, S., Catteruccia, M., Petrini, S., Tozzi, F., Rizza, T., Carrozzo, R., Nizzardo, M., Bordoni, A., Ronchi, D., D'Amico, A., Rizzo, C., Comi, G. P., Bertini, E. <strong>Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations.</strong> J. Med. Genet. 50: 104-107, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23243084/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23243084</a>] [<a href="https://doi.org/10.1136/jmedgenet-2012-101204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23243084">Ciccolella et al. (2013)</a>, see <a href="#0004">607882.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23243084" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs398123067 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398123067;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs398123067" 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=rs398123067" 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=RCV000082864" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000082864" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000082864</a>
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<p>In 2 sibs with Brown-Vialetto-Van Laere syndrome-2 (BVVLS2; <a href="/entry/614707">614707</a>), <a href="#4" class="mim-tip-reference" title="Foley, A. R., Menezes, M. P., Pandraud, A., Gonzalez, M. A., Al-Odaib, A., Abrams, A. J., Sugano, K., Yonezawa, A., Manzur, A. Y., Burns, J., Hughes, I., McCullagh, B. G., and 42 others. <strong>Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.</strong> Brain 137: 44-56, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24253200/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24253200</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24253200[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awt315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24253200">Foley et al. (2014)</a> identified compound heterozygous mutations in the SLC52A2 gene: a c.851C-A transversion resulting in an ala284-to-asp (A284D) substitution, and G306R (<a href="#0001">607882.0001</a>). In vitro cellular expression studies indicated that the A284D mutation completely abolished riboflavin uptake and caused a decrease in SLC52A2 protein expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24253200" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 BROWN-VIALETTO-VAN LAERE SYNDROME 2</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs398123068 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398123068;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/rs398123068?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=rs398123068" 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=rs398123068" 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=RCV000082865" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000082865" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000082865</a>
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<p>In an Irish infant with Brown-Vialetto-Van Laere syndrome-2 (BVVLS2; <a href="/entry/614707">614707</a>), <a href="#4" class="mim-tip-reference" title="Foley, A. R., Menezes, M. P., Pandraud, A., Gonzalez, M. A., Al-Odaib, A., Abrams, A. J., Sugano, K., Yonezawa, A., Manzur, A. Y., Burns, J., Hughes, I., McCullagh, B. G., and 42 others. <strong>Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.</strong> Brain 137: 44-56, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24253200/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24253200</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24253200[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awt315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24253200">Foley et al. (2014)</a> identified compound heterozygous mutations in the SLC52A2 gene: a c.914A-G transition, resulting in a tyr305-to-cys (Y305C) substitution, and G306R (<a href="#0001">607882.0001</a>). In vitro cellular expression studies indicated that the Y305C mutation completely abolished riboflavin uptake and caused a decrease in SLC52A2 protein expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24253200" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>REFERENCES</strong>
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<strong>Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23243084/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23243084</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23243084" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmedgenet-2012-101204" target="_blank">Full Text</a>]
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<a id="Dickinson2016" class="mim-anchor"></a>
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Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others.
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<strong>High-throughput discovery of novel developmental phenotypes.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27626380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27626380</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27626380" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nature19356" target="_blank">Full Text</a>]
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<a id="Ericsson2003" class="mim-anchor"></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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[<a href="https://doi.org/10.1073/pnas.1138025100" target="_blank">Full Text</a>]
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<a id="Foley2014" class="mim-anchor"></a>
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Foley, A. R., Menezes, M. P., Pandraud, A., Gonzalez, M. A., Al-Odaib, A., Abrams, A. J., Sugano, K., Yonezawa, A., Manzur, A. Y., Burns, J., Hughes, I., McCullagh, B. G., and 42 others.
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<strong>Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.</strong>
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Brain 137: 44-56, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24253200/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24253200</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24253200[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=24253200" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/brain/awt315" target="_blank">Full Text</a>]
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<a id="Gorcenco2019" class="mim-anchor"></a>
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Gorcenco, S., Vaz, F. M., Tracewska-Siemiatkowska, A., Tranebjaerg, L., Cremers, F. P. M., Ygland, E., Kicsi, J., Rendtorff, N. D. Moller, C., Kjellstrom, U., Andreasson, S., Puschmann, A.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30343981/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30343981</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30343981" 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.parkreldis.2018.10.017" target="_blank">Full Text</a>]
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Haack, T. B., Makowski, C., Yao, Y., Graf, E., Hempel, M., Wieland, T., Tauer, U., Ahting, U., Mayr, J. A., Freisinger, P., Yoshimatsu, H., Inui, K., Strom, T. M., Meitinger, T., Yonezawa, A., Prokisch, H.
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[<a href="https://doi.org/10.1007/s10545-012-9513-y" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/brain/aws161" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(sici)1096-8628(20000515)92:2<117::aid-ajmg7>3.0.co;2-c" target="_blank">Full Text</a>]
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<a id="Yao2010" class="mim-anchor"></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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[<a href="https://doi.org/10.3945/jn.110.122911" target="_blank">Full Text</a>]
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</p>
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 08/25/2017
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Ada Hamosh - updated : 02/21/2017<br>Cassandra L. Kniffin - updated : 1/15/2014<br>Cassandra L. Kniffin - updated : 2/25/2013<br>Cassandra L. Kniffin - updated : 1/22/2013<br>Patricia A. Hartz - updated : 7/11/2012<br>Cassandra L. Kniffin - updated : 7/10/2012
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 6/13/2003
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</span>
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</div>
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<a id="editHistory" class="mim-anchor"></a>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 09/23/2020
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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carol : 02/05/2018<br>mgross : 08/25/2017<br>alopez : 02/21/2017<br>alopez : 07/22/2015<br>mcolton : 6/26/2015<br>carol : 1/16/2014<br>ckniffin : 1/15/2014<br>carol : 3/11/2013<br>ckniffin : 2/25/2013<br>alopez : 2/5/2013<br>ckniffin : 1/22/2013<br>terry : 9/19/2012<br>alopez : 8/21/2012<br>terry : 7/11/2012<br>carol : 7/10/2012<br>ckniffin : 7/10/2012<br>carol : 7/3/2012<br>alopez : 6/18/2007<br>terry : 6/28/2005<br>mgross : 6/13/2003
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<h3>
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<span class="mim-font">
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<strong>*</strong> 607882
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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SOLUTE CARRIER FAMILY 52 (RIBOFLAVIN TRANSPORTER), MEMBER 2; SLC52A2
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div >
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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G PROTEIN-COUPLED RECEPTOR 172A; GPR172A<br />
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G PROTEIN-COUPLED RECEPTOR 41; GPCR41<br />
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PORCINE ENDOGENOUS RETROVIRUS, SUBGROUP A, RECEPTOR 1; PAR1<br />
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PERV-A RECEPTOR 1<br />
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RIBOFLAVIN TRANSPORTER 3; RFT3<br />
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RFVT2<br />
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FLJ11856
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</span>
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</h4>
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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: SLC52A2</em></strong>
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</span>
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</p>
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</div>
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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: 8q24.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 8:144,358,552-144,361,272 </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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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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8q24.3
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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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Brown-Vialetto-Van Laere syndrome 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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614707
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tbody>
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</table>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>SLC52A2 (RFT3, RFVT2) is a transmembrane protein that mediates cellular uptake of riboflavin. 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 (summary by Yao et al., 2010). </p>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>GPCR41 and GPCR42 (607883) act as receptors for porcine endogenous retrovirus subgroup A (PERV-A). Ericsson et al. (2003) identified a HeLa cell cDNA encoding GPCR41, which they designated PAR1, based on its ability to confer PERV-A infectivity in a resistant rabbit cell line. They obtained the full-length clone by rescreening the HeLa cell cDNA library. The deduced 445-amino acid protein is a putative G protein-coupled receptor and contains 10 or 11 putative transmembrane regions similar to other gammaretrovirus receptors. PAR1 shares significant homology with PAR2 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. </p><p>By searching a human database for sequences similar to RFT1 (SLC52A1; 607883), followed by RT-PCR of human small intestine total RNA, Yao et al. (2010) cloned SLC52A2, which they called RFT3. The deduced 445-amino acid protein has 10 putative transmembrane domains and shares 86.7% and 44.1% identity with RFT1 and RFT2 (SLC52A3; 613350), respectively. Real-time PCR detected variable RFT3 expression in all tissues examined, with highest expression in adult and fetal whole brain, followed by salivary gland. Fluorescence-tagged RFT3 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">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>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, and RFT3 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>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Ericsson et al. (2003) determined that the PAR1 gene contains at least 3 exons. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p>By genomic sequence analysis, Ericsson et al. (2003) mapped the PAR1 gene to chromosome 8. </p><p>Hartz (2012) mapped the SLC52A2 gene to chromosome 8q24.3 based on an alignment of the SLC52A2 sequence (GenBank AK021918) with the genomic sequence (GRCh37).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In affected members of a large consanguineous Lebanese family with severe Brown-Vialetto-Van Laere syndrome-2 (BVVLS2; 614707), Johnson et al. (2012) identified a homozygous mutation in the SLC52A2 gene (G306R; 607882.0001). A Scottish girl with the disorder was also found to be homozygous for the G306R mutation; she was the only child from a cohort of 44 patients with childhood motor neuron disease who carried an SLC52A2 mutation, suggesting that such defects are rare. The phenotype was characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting resulting in respiratory insufficiency and loss of independent ambulation. </p><p>In a girl with BVVLS2, Haack et al. (2012) identified compound heterozygous mutations in the SLC52A2 gene (607882.0002 and 607882.0003). </p><p>In a boy with severe early-onset BVVLS2 resulting in death at age 3, Ciccolella et al. (2013) identified compound heterozygous mutations in the SLC52A2 gene (607882.0004-607882.0005). Each of the unaffected parents was heterozygous for 1 of the mutations. Patient cells showed significantly decreased riboflavin transport (about 29%) compared to controls. </p><p>By Sanger sequencing of the SLC52A2 gene in 78 patients of various origins with a phenotype of cranial neuropathies and sensorimotor neuropathy with or without respiratory insufficiency from 21 medical centers Foley et al. (2014) identified 8 different biallelic mutations (see, e.g., 607882.0001; 607882.0003; 607882.0006-607882.0007) in 13 probands (including the Scottish patient previously reported by Johnson et al., 2012) and 5 affected family members. The most common mutation was G306R, which was found in homozygous state in 3 Lebanese families and in compound heterozygous state in 2 families and 3 singleton patients. In vitro functional expression studies showed that the mutations caused reduced or absent riboflavin uptake and reduced riboflavin transporter protein expression. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Animal Model</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In a study of 1,751 knockout alleles created by the International Mouse Phenotyping Consortium (IMPC), Dickinson et al. (2016) found that knockout of the mouse homolog of human SLC52A2 is homozygous-lethal (defined as absence of homozygous mice after screening of at least 28 pups before weaning). </p><p>Meehan et al. (2017) reported that knockout of Slc52a2 in mice caused increased or absent threshold for auditory brainstem response. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>ALLELIC VARIANTS</strong>
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</span>
|
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<strong>7 Selected Examples):</strong>
|
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</span>
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</h4>
|
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<div>
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<p />
|
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0001 BROWN-VIALETTO-VAN LAERE SYNDROME 2</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLC52A2, GLY306ARG
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<br />
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SNP: rs398124641,
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|
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gnomAD: rs398124641,
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ClinVar: RCV000029145, RCV000235263, RCV002371782
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In affected members of a large consanguineous Lebanese family with severe Brown-Vialetto-Van Laere syndrome-2 (BVVLS2; 614707) originally reported by Megarbane et al. (2000), Johnson et al. (2012) identified a homozygous 916G-A transition in exon 3 of the SLC52A2 gene, resulting in a gly306-to-arg (G306R) substitution at a highly conserved residue. The mutation was identified by autozygosity mapping followed by exome sequencing, and was not found in 1,400 control chromosomes. A Scottish girl with the disorder was also found to be homozygous for the G306R mutation; she was the only child from a cohort of 44 patients with childhood motor neuron disease who carried an SLC52A2 mutation, suggesting that such defects are rare. </p><p>Foley et al. (2014) found that the G306R mutation was the most common mutation in their series of 13 probands with BVVLS2. Three families of Lebanese origin carried G306R in the homozygous state, suggesting a founder effect, whereas affected members of 2 additional families and 3 singleton patients carried it in compound heterozygosity with another pathogenic SLC52A2 mutation (see, e.g., L339P, 607882.0003; A284D, 607882.0006; and Y305C, 607882.0007). In vitro cellular expression studies showed that the G306R mutation caused a moderate but significant reduction in riboflavin uptake and a decrease in SLC52A2 protein expression. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 BROWN-VIALETTO-VAN LAERE SYNDROME 2</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLC52A2, LEU123PRO
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<br />
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SNP: rs397514538,
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gnomAD: rs397514538,
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ClinVar: RCV000032776, RCV004755753
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a girl with Brown-Vialetto-Van Laere syndrome-2 (BVVLS2; 614707), Haack et al. (2012) identified compound heterozygous mutations in the SLC52A2 gene: a 368T-C transition resulting in a leu123-to-pro (L123P) substitution, and a 1016T-C transition resulting in a leu339-to-pro (L339P; 607882.0003) substitution. Both mutations occurred at highly conserved residues. The mutations were found by exome sequencing and confirmed by Sanger sequencing. The 368T-C transition was absent from public SNP databases, but 1016T-C was found 3 times in the heterozygous state in 5,375 control exomes. Each unaffected parent was heterozygous for 1 of the mutations. Transfection of the mutations in HEK293 cells showed that both caused a significant decrease in SLC52A2 transporter activity compared to wildtype. At age 3 years, the patient presented with hearing impairment, progressive optic atrophy, and severe ataxia. Laboratory studies showed increased levels of several acylcarnitine and hydroxy-acylcarnitine species. Oral riboflavin supplementation resulted in improved fine motor skills and assisted gait and normalization of laboratory values. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 BROWN-VIALETTO-VAN LAERE SYNDROME 2</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLC52A2, LEU339PRO ({dbSNP rs148234606})
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<br />
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SNP: rs148234606,
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gnomAD: rs148234606,
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ClinVar: RCV000032777, RCV000236444, RCV000624303, RCV004755754
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the leu339-to-pro (L339P) mutation in the SLC52A2 gene that was found in compound heterozygous state in a patient with Brown-Vialetto-Van Laere syndrome-2 (BVVLS2; 614707) by Haack et al. (2012), see 607882.0002. </p><p>Foley et al. (2014) found the L339P mutation in compound heterozygosity with a G306R mutation (607882.0001). In vitro cellular expression studies by Foley et al. (2014) indicated that the L339P mutation completely abolished riboflavin uptake and caused a decrease in SLC52A2 protein expression. </p><p>This variant is also referred to as c.968T-C, resulting in a leu323-to-pro substitution, based on a different SLC52A2 sequence (c.968T-C, NM_024531.4) (Gorcenco et al., 2019). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0004 BROWN-VIALETTO-VAN LAERE SYNDROME 2</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLC52A2, SER52PHE
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<br />
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SNP: rs397514657,
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gnomAD: rs397514657,
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ClinVar: RCV000033238, RCV000236548
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 3-year-old boy with severe, early-onset fatal Brown-Vialetto-Van Laere syndrome-2 (BVVLS2; 614707), Ciccolella et al. (2013) identified compound heterozygosity for 2 mutations in the SLC52A2 gene: a 155C-T transition, resulting in a ser52-to-phe (S52F) substitution, and a 1255G-A transition resulting in a gly419-to-ser (G419S) (607882.0005) substitution. Both mutations occurred at highly conserved residues. Each unaffected parent was heterozygous for 1 of the mutations, and neither mutation was found in 200 control chromosomes or in 10,000 control exomes. Patient cells showed significantly decreased RFT3 mRNA (45%), lack of RFT3 protein, and decreased riboflavin transport (29%) compared to controls. Patient cells also showed no detectable RFT1 protein (SLC52A1; 607883). Fibroblasts from the father, who carried the S52F mutation, showed decreased RFT3 mRNA levels, at about 48% of controls, whereas mRNA levels in the mother were normal. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0005 BROWN-VIALETTO-VAN LAERE SYNDROME 2</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLC52A2, GLY419SER
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<br />
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SNP: rs397514658,
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ClinVar: RCV000033239
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|
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</span>
|
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>For discussion of the gly419-to-ser (G419S) mutation in the SLC52A2 gene that was found in compound heterozygous state in a patient with Brown-Vialetto-Van Laere syndrome-2 (BVVLS2; 614707) by Ciccolella et al. (2013), see 607882.0004. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0006 BROWN-VIALETTO-VAN LAERE SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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SLC52A2, ALA284ASP
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<br />
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SNP: rs398123067,
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|
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ClinVar: RCV000082864
|
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|
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|
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</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sibs with Brown-Vialetto-Van Laere syndrome-2 (BVVLS2; 614707), Foley et al. (2014) identified compound heterozygous mutations in the SLC52A2 gene: a c.851C-A transversion resulting in an ala284-to-asp (A284D) substitution, and G306R (607882.0001). In vitro cellular expression studies indicated that the A284D mutation completely abolished riboflavin uptake and caused a decrease in SLC52A2 protein expression. </p>
|
|
</span>
|
|
</div>
|
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<div>
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<br />
|
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 BROWN-VIALETTO-VAN LAERE SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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SLC52A2, TYR305CYS
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|
<br />
|
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|
|
SNP: rs398123068,
|
|
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|
|
|
gnomAD: rs398123068,
|
|
|
|
|
|
ClinVar: RCV000082865
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Irish infant with Brown-Vialetto-Van Laere syndrome-2 (BVVLS2; 614707), Foley et al. (2014) identified compound heterozygous mutations in the SLC52A2 gene: a c.914A-G transition, resulting in a tyr305-to-cys (Y305C) substitution, and G306R (607882.0001). In vitro cellular expression studies indicated that the Y305C mutation completely abolished riboflavin uptake and caused a decrease in SLC52A2 protein expression. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
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<div>
|
|
<br />
|
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</div>
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
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<div>
|
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<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ciccolella, M., Corti, S., Catteruccia, M., Petrini, S., Tozzi, F., Rizza, T., Carrozzo, R., Nizzardo, M., Bordoni, A., Ronchi, D., D'Amico, A., Rizzo, C., Comi, G. P., Bertini, E.
|
|
<strong>Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations.</strong>
|
|
J. Med. Genet. 50: 104-107, 2013.
|
|
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|
|
[PubMed: 23243084]
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|
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[Full Text: https://doi.org/10.1136/jmedgenet-2012-101204]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others.
|
|
<strong>High-throughput discovery of novel developmental phenotypes.</strong>
|
|
Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017.
|
|
|
|
|
|
[PubMed: 27626380]
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|
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[Full Text: https://doi.org/10.1038/nature19356]
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</p>
|
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</li>
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<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.
|
|
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|
|
[PubMed: 12740431]
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[Full Text: https://doi.org/10.1073/pnas.1138025100]
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</p>
|
|
</li>
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<li>
|
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<p class="mim-text-font">
|
|
Foley, A. R., Menezes, M. P., Pandraud, A., Gonzalez, M. A., Al-Odaib, A., Abrams, A. J., Sugano, K., Yonezawa, A., Manzur, A. Y., Burns, J., Hughes, I., McCullagh, B. G., and 42 others.
|
|
<strong>Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.</strong>
|
|
Brain 137: 44-56, 2014.
|
|
|
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|
|
[PubMed: 24253200]
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|
|
[Full Text: https://doi.org/10.1093/brain/awt315]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Gorcenco, S., Vaz, F. M., Tracewska-Siemiatkowska, A., Tranebjaerg, L., Cremers, F. P. M., Ygland, E., Kicsi, J., Rendtorff, N. D. Moller, C., Kjellstrom, U., Andreasson, S., Puschmann, A.
|
|
<strong>Oral therapy for riboflavin transporter deficiency--what is the regimen of choice?</strong>
|
|
Parkinsonism Relat. Disord. 61: 245-247, 2019.
|
|
|
|
|
|
[PubMed: 30343981]
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|
|
[Full Text: https://doi.org/10.1016/j.parkreldis.2018.10.017]
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</p>
|
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</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Haack, T. B., Makowski, C., Yao, Y., Graf, E., Hempel, M., Wieland, T., Tauer, U., Ahting, U., Mayr, J. A., Freisinger, P., Yoshimatsu, H., Inui, K., Strom, T. M., Meitinger, T., Yonezawa, A., Prokisch, H.
|
|
<strong>Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.</strong>
|
|
J. Inherit. Metab. Dis. 35: 943-948, 2012.
|
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|
|
[PubMed: 22864630]
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[Full Text: https://doi.org/10.1007/s10545-012-9513-y]
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</p>
|
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</li>
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<li>
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<p class="mim-text-font">
|
|
Hartz, P. A.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 7/11/2012.
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|
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</p>
|
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</li>
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<li>
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<p class="mim-text-font">
|
|
Johnson, J. O., Gibbs, J. R., Megarbane, A., Urtizberea, J. A., Hernandez, D. G., Foley, A. R., Arepalli, S., Pandraud, A., Simon-Sanchez, J., Clayton, P., Reilly, M. M., Muntoni, F., Abramzon, Y., Houlden, H., Singleton, A. B.
|
|
<strong>Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.</strong>
|
|
Brain 135: 2875-2882, 2012.
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|
|
[PubMed: 22740598]
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|
|
[Full Text: https://doi.org/10.1093/brain/aws161]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Meehan, T. F., Conte, N., West, D. B., Jacobsen, J. O., Mason, J., Warren, J., Chen, C.-K., Tudose, I., Relac, M., Matthews, P., Karp, N., Santos, L., and 52 others.
|
|
<strong>Disease model discovery from 3,328 gene knockouts by the International Mouse Phenotyping Consortium.</strong>
|
|
Nature Genet. 49: 1231-1238, 2017.
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[PubMed: 28650483]
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[Full Text: https://doi.org/10.1038/ng.3901]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Megarbane, A., Desguerres, I., Rizkallah, E., Delague, V., Nabbout, R., Barois, A., Urtizberea, A.
|
|
<strong>Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: confirmation of autosomal recessive inheritance?</strong>
|
|
Am. J. Med. Genet. 92: 117-121, 2000.
|
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|
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[PubMed: 10797435]
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[Full Text: https://doi.org/10.1002/(sici)1096-8628(20000515)92:2<117::aid-ajmg7>3.0.co;2-c]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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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.
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|
[PubMed: 20463145]
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[Full Text: https://doi.org/10.3945/jn.110.122911]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
|
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Patricia A. Hartz - updated : 08/25/2017<br>Ada Hamosh - updated : 02/21/2017<br>Cassandra L. Kniffin - updated : 1/15/2014<br>Cassandra L. Kniffin - updated : 2/25/2013<br>Cassandra L. Kniffin - updated : 1/22/2013<br>Patricia A. Hartz - updated : 7/11/2012<br>Cassandra L. Kniffin - updated : 7/10/2012
|
|
</span>
|
|
</div>
|
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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 class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
|
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
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Patricia A. Hartz : 6/13/2003
|
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
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Edit History:
|
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</span>
|
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 09/23/2020<br>carol : 02/05/2018<br>mgross : 08/25/2017<br>alopez : 02/21/2017<br>alopez : 07/22/2015<br>mcolton : 6/26/2015<br>carol : 1/16/2014<br>ckniffin : 1/15/2014<br>carol : 3/11/2013<br>ckniffin : 2/25/2013<br>alopez : 2/5/2013<br>ckniffin : 1/22/2013<br>terry : 9/19/2012<br>alopez : 8/21/2012<br>terry : 7/11/2012<br>carol : 7/10/2012<br>ckniffin : 7/10/2012<br>carol : 7/3/2012<br>alopez : 6/18/2007<br>terry : 6/28/2005<br>mgross : 6/13/2003
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