3760 lines
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Entry
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- *611672 - SOLUTE CARRIER FAMILY 46 (FOLATE TRANSPORTER), MEMBER 1; SLC46A1
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- OMIM
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<p>
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<span class="h4">*611672</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/611672">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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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 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 class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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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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</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=ENSG00000076351;t=ENST00000612814" 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=113235" 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=611672" 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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<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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<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=ENSG00000076351;t=ENST00000612814" 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_001242366,NM_080669,XM_005277786,XM_017024110,XM_047435279,XM_047435280" 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_080669" 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=611672" 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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<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=14715&isoform_id=14715_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/SLC46A1" 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/14715055,16549261,18676670,30268299,31543204,50833950,74732636,94717633,119571470,119571471,119571472,119571473,119571474,194381450,334688816,530432867,1034597975,2217309772,2217309774,2462552835" 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/Q96NT5" 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=113235" 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=ENSG00000076351;t=ENST00000612814" 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=SLC46A1" 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=SLC46A1" 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+113235" 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/SLC46A1" 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:113235" 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/113235" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr17&hgg_gene=ENST00000612814.5&hgg_start=28394642&hgg_end=28406592&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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://medlineplus.gov/genetics/gene/slc46a1" 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=611672[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 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=611672[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000076351" 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=SLC46A1" 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=SLC46A1" 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=SLC46A1" 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=SLC46A1&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/PA162403775" 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:30521" 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/FBgn0030576.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:1098733" 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/SLC46A1#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:1098733" 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/113235/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=113235" 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=WBGene00012811;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00012811 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00021159;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00021159 </a></div>
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</div>
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<div><a href="https://zfin.org/ZDB-GENE-040426-1012" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:113235" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=SLC46A1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 62578003<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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611672
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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 46 (FOLATE TRANSPORTER), MEMBER 1; SLC46A1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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HEME CARRIER PROTEIN 1; HCP1<br />
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PROTON-COUPLED FOLATE TRANSPORTER; PCFT
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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=SLC46A1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SLC46A1</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/17/337?start=-3&limit=10&highlight=337">17q11.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr17:28394642-28406592&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">17:28,394,642-28,406,592</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
|
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<a href="/geneMap/17/337?start=-3&limit=10&highlight=337">
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17q11.2
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Folate malabsorption, hereditary
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/229050"> 229050 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/611672" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/611672" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<p><a href="#10" class="mim-tip-reference" title="Shayeghi, M., Latunde-Dada, G. O., Oakhill, J. S., Laftah, A. H., Takeuchi, K., Halliday, N., Khan, Y., Warley, A., McCann, F. E., Hider, R. C., Frazer, D. M., Anderson, G. J., Vulpe, C. D., Simpson, R. J., McKie, A. T. <strong>Identification of an intestinal heme transporter.</strong> Cell 122: 789-801, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16143108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16143108</a>] [<a href="https://doi.org/10.1016/j.cell.2005.06.025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16143108">Shayeghi et al. (2005)</a> cloned mouse Slc46a1, which they called Hcp1, and identified its human homolog by database analysis. The mouse and human proteins contain 459 amino acids and have 9 predicted transmembrane domains. Northern blot analysis detected prominent Hcp1 expression in mouse duodenum, lower expression in liver and kidney, and no expression in other mouse tissues examined. Immunoelectron microscopy revealed Hcp1 in the brush border membrane and apical cytoplasm of mouse duodenum. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16143108" 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 Northern blot analysis of human tissues, <a href="#8" class="mim-tip-reference" title="Qiu, A., Jansen, M., Sakaris, A., Min, S. H., Chattopadhyay, S., Tsai, E., Sandoval, C., Zhao, R., Akabas, M. H., Goldman, I. D. <strong>Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption.</strong> Cell 127: 917-928, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17129779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17129779</a>] [<a href="https://doi.org/10.1016/j.cell.2006.09.041" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17129779">Qiu et al. (2006)</a> identified strong expression of 2.7- and 2.1-kb transcripts in kidney, liver, placenta, small intestine, and spleen, with lower expression in colon and testis, and very low expression in brain, lung, stomach, heart, and muscle. Quantitative PCR of human intestine detected high expression in duodenum, followed by jejunum, ileum, cecum, colon, and rectum. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17129779" 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="Sharma, S., Dimasi, D., Broer, S., Kumar, R., Della, N. G. <strong>Heme carrier protein 1 (HCP1) expression and functional analysis in the retina and retinal pigment epithelium.</strong> Exp. Cell Res. 313: 1251-1259, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17335806/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17335806</a>] [<a href="https://doi.org/10.1016/j.yexcr.2007.01.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17335806">Sharma et al. (2007)</a> determined that human HCP1 shares 80%, 84%, and 87% amino acid identity with bovine, rat, and mouse Hcp1, respectively. They predicted that bovine Hcp1 has 12 transmembrane domains and intracellular N and C termini, and sequence analysis suggested that this structure is conserved among eukaryotes. RT-PCR detected HCP1 expression in human brain, breast, kidney, prostate, spleen, retina, and retinal pigment epithelium. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17335806" 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="#10" class="mim-tip-reference" title="Shayeghi, M., Latunde-Dada, G. O., Oakhill, J. S., Laftah, A. H., Takeuchi, K., Halliday, N., Khan, Y., Warley, A., McCann, F. E., Hider, R. C., Frazer, D. M., Anderson, G. J., Vulpe, C. D., Simpson, R. J., McKie, A. T. <strong>Identification of an intestinal heme transporter.</strong> Cell 122: 789-801, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16143108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16143108</a>] [<a href="https://doi.org/10.1016/j.cell.2005.06.025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16143108">Shayeghi et al. (2005)</a> determined that the SLC46A1 gene contains 5 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16143108" 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="#10" class="mim-tip-reference" title="Shayeghi, M., Latunde-Dada, G. O., Oakhill, J. S., Laftah, A. H., Takeuchi, K., Halliday, N., Khan, Y., Warley, A., McCann, F. E., Hider, R. C., Frazer, D. M., Anderson, G. J., Vulpe, C. D., Simpson, R. J., McKie, A. T. <strong>Identification of an intestinal heme transporter.</strong> Cell 122: 789-801, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16143108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16143108</a>] [<a href="https://doi.org/10.1016/j.cell.2005.06.025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16143108">Shayeghi et al. (2005)</a> stated that the SLC46A1 gene maps to human chromosome 17q11.1 and to mouse chromosome 11B5. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16143108" 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="#10" class="mim-tip-reference" title="Shayeghi, M., Latunde-Dada, G. O., Oakhill, J. S., Laftah, A. H., Takeuchi, K., Halliday, N., Khan, Y., Warley, A., McCann, F. E., Hider, R. C., Frazer, D. M., Anderson, G. J., Vulpe, C. D., Simpson, R. J., McKie, A. T. <strong>Identification of an intestinal heme transporter.</strong> Cell 122: 789-801, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16143108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16143108</a>] [<a href="https://doi.org/10.1016/j.cell.2005.06.025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16143108">Shayeghi et al. (2005)</a> found that mouse Hcp1 mediated transmembrane uptake of heme in a temperature-dependent and saturable manner following expression in Xenopus oocytes and HeLa cells, and that HCP1 was specific for the porphyrin ring. Exposure of mice to hypoxia, which induces iron absorption, induced Hcp1 mRNA. In iron-deficient mouse duodenum, Hcp1 localized to the brush border membrane with little or no cytoplasmic staining. In contrast, Hcp1 appeared to accumulate in the cytoplasm, with no apical staining, in iron-loaded mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16143108" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Latunde-Dada, G. O., Takeuchi, K., Simpson, R. J., McKie, A. T. <strong>Haem carrier protein 1 (HCP1): expression and functional studies in cultured cells.</strong> FEBS Lett. 580: 6865-6870, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17156779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17156779</a>] [<a href="https://doi.org/10.1016/j.febslet.2006.11.048" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17156779">Latunde-Dada et al. (2006)</a> showed that HCP1 mediated time- and temperature-dependent heme uptake in transfected Caco-2 intestinal cells. HCP1 mRNA expression increased after differentiation in Caco-2 cells, and this increase correlated with enhanced heme uptake during differentiation. Induction of heme oxygenase-1 (HMOX1; <a href="/entry/141250">141250</a>), but not iron or iron chelation, induced HCP1 mRNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17156779" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Qiu, A., Jansen, M., Sakaris, A., Min, S. H., Chattopadhyay, S., Tsai, E., Sandoval, C., Zhao, R., Akabas, M. H., Goldman, I. D. <strong>Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption.</strong> Cell 127: 917-928, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17129779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17129779</a>] [<a href="https://doi.org/10.1016/j.cell.2006.09.041" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17129779">Qiu et al. (2006)</a> identified PCFT as a proton-coupled high-affinity folate transporter that operates at low pH in the intestine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17129779" 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="Nakai, Y., Inoue, K., Abe, N., Hatakeyama, M., Ohta, K., Otagiri, M., Hayashi, Y., Yuasa, H. <strong>Functional characterization of human proton-coupled folate transporter/heme carrier protein 1 heterologously expressed in mammalian cells as a folate transporter.</strong> J. Pharm. Exp. Ther. 322: 469-476, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17475902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17475902</a>] [<a href="https://doi.org/10.1124/jpet.107.122606" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17475902">Nakai et al. (2007)</a> showed that PCFT expressed transiently in human embryonic kidney cells mediated transport of folate at an extracellular pH of 5.5 in a manner independent of Na+ and insensitive to membrane potential. Transport activity was absent at near-neutral pH. Folate transport was saturable and inhibited by reduced folates, including methotrexate. When expressed in canine kidney cells, PCFT mainly localized at the apical membrane, and cellular accumulation of methotrexate was higher from the apical side than from the basal side. <a href="#7" class="mim-tip-reference" title="Nakai, Y., Inoue, K., Abe, N., Hatakeyama, M., Ohta, K., Otagiri, M., Hayashi, Y., Yuasa, H. <strong>Functional characterization of human proton-coupled folate transporter/heme carrier protein 1 heterologously expressed in mammalian cells as a folate transporter.</strong> J. Pharm. Exp. Ther. 322: 469-476, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17475902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17475902</a>] [<a href="https://doi.org/10.1124/jpet.107.122606" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17475902">Nakai et al. (2007)</a> concluded that PCFT is responsible for intestinal absorption of folate and reduced folates. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17475902" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of a family with hereditary folate malabsorption (<a href="/entry/229050">229050</a>), <a href="#8" class="mim-tip-reference" title="Qiu, A., Jansen, M., Sakaris, A., Min, S. H., Chattopadhyay, S., Tsai, E., Sandoval, C., Zhao, R., Akabas, M. H., Goldman, I. D. <strong>Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption.</strong> Cell 127: 917-928, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17129779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17129779</a>] [<a href="https://doi.org/10.1016/j.cell.2006.09.041" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17129779">Qiu et al. (2006)</a> identified a homozygous mutation in the SLC46A1 gene (<a href="#0001">611672.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17129779" 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 5 infants with hereditary folate malabsorption, <a href="#12" class="mim-tip-reference" title="Zhao, R., Min, S. H., Qiu, A., Sakaris, A., Goldberg, G. L., Sandoval, C., Malatack, J. J., Rosenblatt, D. S., Goldman, I. D. <strong>The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption.</strong> Blood 110: 1147-1152, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17446347/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17446347</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17446347[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/10.1182/blood-2007-02-077099" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17446347">Zhao et al. (2007)</a> identified 6 different biallelic mutations in the SLC46A1 gene (see, e.g., <a href="#0002">611672.0002</a>-<a href="#0005">611672.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17446347" 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> rs80338775 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338775;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/rs80338775?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=rs80338775" 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=rs80338775" 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=RCV000000898 OR RCV001851519 OR RCV002512627 OR RCV004757092" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000898, RCV001851519, RCV002512627, RCV004757092" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000898...</a>
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<p>In 2 Puerto Rican sisters with hereditary folate malabsorption (<a href="/entry/229050">229050</a>) (<a href="#3" class="mim-tip-reference" title="Geller, J., Kronn, D., Jayabose, S., Sandoval, C. <strong>Hereditary folate malabsorption: family report and review of the literature.</strong> Medicine 81: 51-68, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11807405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11807405</a>] [<a href="https://doi.org/10.1097/00005792-200201000-00004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11807405">Geller et al., 2002</a>), <a href="#8" class="mim-tip-reference" title="Qiu, A., Jansen, M., Sakaris, A., Min, S. H., Chattopadhyay, S., Tsai, E., Sandoval, C., Zhao, R., Akabas, M. H., Goldman, I. D. <strong>Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption.</strong> Cell 127: 917-928, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17129779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17129779</a>] [<a href="https://doi.org/10.1016/j.cell.2006.09.041" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17129779">Qiu et al. (2006)</a> identified a homozygous G-to-A transition in intron 2 of the SLC46A1 gene, resulting in a splice site mutation and the skipping of exon 3. In vitro functional expression studies showed that the mutant protein was trapped intracellularly and lacked transport function. Each unaffected parent was heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11807405+17129779" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 FOLATE MALABSORPTION, HEREDITARY</strong>
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SLC46A1, 1-BP DEL, 194G
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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> rs80338769 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338769;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/rs80338769?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=rs80338769" 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=rs80338769" 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=RCV000000899 OR RCV003555883" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000899, RCV003555883" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000899...</a>
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<p>In an African American boy with hereditary folate malabsorption (<a href="/entry/229050">229050</a>), <a href="#12" class="mim-tip-reference" title="Zhao, R., Min, S. H., Qiu, A., Sakaris, A., Goldberg, G. L., Sandoval, C., Malatack, J. J., Rosenblatt, D. S., Goldman, I. D. <strong>The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption.</strong> Blood 110: 1147-1152, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17446347/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17446347</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17446347[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/10.1182/blood-2007-02-077099" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17446347">Zhao et al. (2007)</a> identified a homozygous 1-bp deletion (194delG) in the SLC46A1 gene, resulting in a frameshift and premature termination. In vitro functional expression studies showed that the mutant protein had no folate transport activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17446347" 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>.0003 FOLATE MALABSORPTION, HEREDITARY</strong>
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SLC46A1, ARG113SER
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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> rs80338770 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338770;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/rs80338770?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=rs80338770" 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=rs80338770" 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=RCV000000900 OR RCV000059713" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000900, RCV000059713" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000900...</a>
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<p>In a Turkish girl with hereditary folate malabsorption (<a href="/entry/229050">229050</a>), <a href="#12" class="mim-tip-reference" title="Zhao, R., Min, S. H., Qiu, A., Sakaris, A., Goldberg, G. L., Sandoval, C., Malatack, J. J., Rosenblatt, D. S., Goldman, I. D. <strong>The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption.</strong> Blood 110: 1147-1152, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17446347/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17446347</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17446347[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/10.1182/blood-2007-02-077099" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17446347">Zhao et al. (2007)</a> identified a homozygous 337C-A transversion in the SLC46A1 gene, resulting in an arg113-to-ser (R113S) substitution. In vitro functional expression studies showed that the mutant protein had no folate transport activity. The patient presented at 5 months of age with a history of fever, diarrhea, and convulsions. She was anemic and leukopenic, with a megaloblastic bone marrow and hypoimmunoglobulinemia. Despite treatment with parenteral folate, she had chronic seizures and persistent neurologic defects, including hemiplegia and mental retardation. She had previously been reported by <a href="#2" class="mim-tip-reference" title="Corbeel, L., Van den Berghe, G., Jaeken, J., Van Tornout, J., Eeckels, R. <strong>Congenital folate malabsorption.</strong> Europ. J. Pediat. 143: 284-290, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3987728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3987728</a>] [<a href="https://doi.org/10.1007/BF00442302" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3987728">Corbeel et al. (1985)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17446347+3987728" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 FOLATE MALABSORPTION, HEREDITARY</strong>
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SLC46A1, SER318ARG
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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> rs80338772 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338772;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/rs80338772?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=rs80338772" 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=rs80338772" 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=RCV000000901 OR RCV000059717" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000901, RCV000059717" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000901...</a>
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<p>In a male infant with hereditary folate malabsorption (<a href="/entry/229050">229050</a>), <a href="#12" class="mim-tip-reference" title="Zhao, R., Min, S. H., Qiu, A., Sakaris, A., Goldberg, G. L., Sandoval, C., Malatack, J. J., Rosenblatt, D. S., Goldman, I. D. <strong>The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption.</strong> Blood 110: 1147-1152, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17446347/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17446347</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17446347[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/10.1182/blood-2007-02-077099" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17446347">Zhao et al. (2007)</a> identified compound heterozygosity for 2 mutations in the SLC46A1 gene: a 954C-G transversion, resulting in a ser318-to-arg (S318R) substitution, and a 1126C-T transition, resulting in an arg376-to-trp (R376W; <a href="#0005">611672.0005</a>) substitution. The patient was of Spanish/Brazilian/Mexican origin and presented at age 4 months with severe macrocytic anemia and thrombocytopenia. He subsequently developed Pneumocystis carinii pneumonia. He had low serum folate and immunoglobulins. Treatment with folate replacement led to clinical improvement. An older sister had developed pancytopenia at age 3 months and died due to cytomegalovirus pneumonia. In vitro functional expression studies showed that both mutant protein lacked folate transport activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17446347" 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>.0005 FOLATE MALABSORPTION, HEREDITARY</strong>
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SLC46A1, ARG376TRP
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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> rs80338773 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338773;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/rs80338773?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=rs80338773" 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=rs80338773" 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=RCV000000902 OR RCV000059710" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000902, RCV000059710" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000902...</a>
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<p>For discussion of the arg376-to-trp (R376W) mutation in the SLC46A1 gene that was found in compound heterozygous state in a patient with hereditary folate malabsorption (<a href="/entry/229050">229050</a>) by <a href="#12" class="mim-tip-reference" title="Zhao, R., Min, S. H., Qiu, A., Sakaris, A., Goldberg, G. L., Sandoval, C., Malatack, J. J., Rosenblatt, D. S., Goldman, I. D. <strong>The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption.</strong> Blood 110: 1147-1152, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17446347/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17446347</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17446347[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/10.1182/blood-2007-02-077099" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17446347">Zhao et al. (2007)</a>, see <a href="#0004">611672.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17446347" 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> rs80338770 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338770;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/rs80338770?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=rs80338770" 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=rs80338770" 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=RCV000000903 OR RCV000059714" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000903, RCV000059714" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000903...</a>
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<p>In a patient with hereditary folate malabsorption (<a href="/entry/229050">229050</a>), <a href="#5" class="mim-tip-reference" title="Lasry, I., Berman, B., Straussberg, R., Sofer, Y., Bessler, H., Sharkia, M., Glaser, F., Jansen, F., Drori, S., Assaraf, Y. G. <strong>A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function.</strong> Blood 112: 2055-2061, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18559978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18559978</a>] [<a href="https://doi.org/10.1182/blood-2008-04-150276" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18559978">Lasry et al. (2008)</a> identified a homozygous 337C-T transition in exon 2 of the in the SLC46A1 gene, resulting in an arg113-to-cys (R113C) substitution in the first intracellular loop connecting transmembrane helices 2 and 3. In vitro functional expression studies in Chinese hamster ovary (CHO) cells showed that the mutant protein was targeted to the plasma membrane but had significantly impaired folate transport activity. Another mutation at this codon (R113S; <a href="#0003">611672.0003</a>) was identified in another patient with the disorder. Bioinformatic analysis showed that the arg113 residue is highly conserved and faces the intramembrane hydrophobic pocket that may be part of a folate translocation pore. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18559978" 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 FOLATE MALABSORPTION, HEREDITARY</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> rs397515574 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515574;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/rs397515574?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=rs397515574" 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=rs397515574" 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=RCV000023910" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023910" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023910</a>
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<p>In a Tunisian patient, born of consanguineous parents, with hereditary folate malabsorption (<a href="/entry/229050">229050</a>), previously reported by <a href="#4" class="mim-tip-reference" title="Jebnoun, S., Kacem, S., Mokrani, C., Chabchoub, A., Khrouf, N., Zittoun, J. <strong>A family study of congenital malabsorption of folate.</strong> J. Inherit. Metab. Dis. 24: 749-750, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11804211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11804211</a>] [<a href="https://doi.org/10.1023/a:1012905823879" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11804211">Jebnoun et al., 2001</a>, <a href="#11" class="mim-tip-reference" title="Shin, D. S., Mahadeo, K., Min, S. H., Diop-Bove, N., Clayton, P., Zhao, R., Goldman, I. D. <strong>Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption.</strong> Molec. Genet. Metab. 103: 33-37, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21333572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21333572</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21333572[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/10.1016/j.ymgme.2011.01.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21333572">Shin et al. (2011)</a> identified a homozygous 1-bp insertion (17insC) in the SLC46A1 gene, resulting in a frameshift and premature termination and predicted to result in complete loss of protein function. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11804211+21333572" 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> rs281875208 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281875208;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/rs281875208?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=rs281875208" 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=rs281875208" 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=RCV000023911 OR RCV000059708" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023911, RCV000059708" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023911...</a>
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<p>In an English boy with hereditary folate malabsorption (<a href="/entry/229050">229050</a>), <a href="#11" class="mim-tip-reference" title="Shin, D. S., Mahadeo, K., Min, S. H., Diop-Bove, N., Clayton, P., Zhao, R., Goldman, I. D. <strong>Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption.</strong> Molec. Genet. Metab. 103: 33-37, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21333572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21333572</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21333572[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/10.1016/j.ymgme.2011.01.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21333572">Shin et al. (2011)</a> identified compound heterozygosity for 2 mutations in the SLC46A1 gene: a 1004C-A transversion in exon 2, resulting in an ala335-to-asp (A335D) substitution, and a 2-bp deletion (204_205delCC; <a href="#0009">611672.0009</a>) in exon 1, resulting in a frameshift and early termination. The A335D substitution occurred in the ninth transmembrane domain, and in vitro functional expression assays in Hela cells showed that the mutant protein was inactive with no folate uptake activity. The child developed Pneumocystis jiroveci pneumonia associated with anemia and undetectable plasma folate at age 2 months. He later showed delayed motor development, hyperreflexia, jerky movements, tremor, and proximal muscle wasting. Brain MRI at 3 years 9 months showed a slight delay in myelination. He improved neurologically with treatment, but had mild difficulty in fine motor skills and reading but good math skills. He developed occipital seizures at age 5 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21333572" 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">rs397515391 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515391;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=rs397515391" 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=rs397515391" 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 2-bp deletion in the SLC46A1 gene (204_205delCC) that was found in compound heterozygous state in a patient with hereditary folate malabsorption (<a href="/entry/229050">229050</a>) by <a href="#11" class="mim-tip-reference" title="Shin, D. S., Mahadeo, K., Min, S. H., Diop-Bove, N., Clayton, P., Zhao, R., Goldman, I. D. <strong>Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption.</strong> Molec. Genet. Metab. 103: 33-37, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21333572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21333572</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21333572[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/10.1016/j.ymgme.2011.01.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21333572">Shin et al. (2011)</a>, see <a href="#0008">611672.0008</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21333572" 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 Turkish sibs with hereditary folate malabsorption, <a href="#1" class="mim-tip-reference" title="Atabay, B., Turker, M., Ozer, E. A., Mahadeo, K., Diop-Bove, N., Goldman, I. D. <strong>Mutation of the proton-coupled folate transporter gene (PCFT-SLC46A1) in Turkish siblings with hereditary folate malabsorption.</strong> Pediat. Hemat. Oncol. 27: 614-619, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20795774/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20795774</a>] [<a href="https://doi.org/10.3109/08880018.2010.481705" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20795774">Atabay et al. (2010)</a> identified a homozygous 2-bp deletion (204_205delCC) in exon 1 of the SLC46A1 gene, resulting in a frameshift and premature termination. Low blood and cerebrospinal fluid folate levels were detected at ages 3.5 and 1 month, respectively. Treatment with parenteral 5-formyltetrahydrofolate resulted in normal development by ages 3 and 1 year, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20795774" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0010 FOLATE MALABSORPTION, HEREDITARY</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> rs281875209 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281875209;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/rs281875209?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=rs281875209" 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=rs281875209" 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=RCV000023913 OR RCV000059709" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023913, RCV000059709" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023913...</a>
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<p>In an 8-year-old Tunisian boy, born of consanguineous parents, with hereditary folate malabsorption (<a href="/entry/229050">229050</a>), <a href="#11" class="mim-tip-reference" title="Shin, D. S., Mahadeo, K., Min, S. H., Diop-Bove, N., Clayton, P., Zhao, R., Goldman, I. D. <strong>Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption.</strong> Molec. Genet. Metab. 103: 33-37, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21333572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21333572</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21333572[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/10.1016/j.ymgme.2011.01.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21333572">Shin et al. (2011)</a> identified a homozygous 1012G-C transversion in the SLC46A1 gene, resulting in a gly338-to-arg (G338R) substitution in the ninth transmembrane domain. In vitro functional expression assays in Hela cells showed that the mutant protein was inactive with no folate uptake activity. The patient developed macrocytic anemia with low serum folate at age 2.5 months. He was treated with leucovorin, which corrected the anemia and axial hypertonia. EEG and head CT scan were normal. Two affected sibs had died. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21333572" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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[<a href="https://doi.org/10.1023/a:1012905823879" target="_blank">Full Text</a>]
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Shin, D. S., Mahadeo, K., Min, S. H., Diop-Bove, N., Clayton, P., Zhao, R., Goldman, I. D.
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<strong>Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption.</strong>
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Molec. Genet. Metab. 103: 33-37, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21333572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21333572</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21333572[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=21333572" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17446347/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17446347</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17446347[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=17446347" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Cassandra L. Kniffin - updated : 5/19/2011
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 4/20/2009
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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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<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 : 12/13/2007
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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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mcolton : 06/15/2015
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</span>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 9/12/2013<br>wwang : 6/6/2011<br>ckniffin : 5/19/2011<br>wwang : 4/23/2009<br>wwang : 4/20/2009<br>ckniffin : 4/20/2009<br>mgross : 12/13/2007
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<h3>
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<span class="mim-font">
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<strong>*</strong> 611672
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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SOLUTE CARRIER FAMILY 46 (FOLATE TRANSPORTER), MEMBER 1; SLC46A1
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</span>
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</h3>
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</div>
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</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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HEME CARRIER PROTEIN 1; HCP1<br />
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PROTON-COUPLED FOLATE TRANSPORTER; PCFT
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</span>
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</h4>
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</div>
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<br />
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: SLC46A1</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 62578003;
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</span>
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</p>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 17q11.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 17:28,394,642-28,406,592 </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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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<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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17q11.2
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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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Folate malabsorption, hereditary
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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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229050
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Shayeghi et al. (2005) cloned mouse Slc46a1, which they called Hcp1, and identified its human homolog by database analysis. The mouse and human proteins contain 459 amino acids and have 9 predicted transmembrane domains. Northern blot analysis detected prominent Hcp1 expression in mouse duodenum, lower expression in liver and kidney, and no expression in other mouse tissues examined. Immunoelectron microscopy revealed Hcp1 in the brush border membrane and apical cytoplasm of mouse duodenum. </p><p>By Northern blot analysis of human tissues, Qiu et al. (2006) identified strong expression of 2.7- and 2.1-kb transcripts in kidney, liver, placenta, small intestine, and spleen, with lower expression in colon and testis, and very low expression in brain, lung, stomach, heart, and muscle. Quantitative PCR of human intestine detected high expression in duodenum, followed by jejunum, ileum, cecum, colon, and rectum. </p><p>Sharma et al. (2007) determined that human HCP1 shares 80%, 84%, and 87% amino acid identity with bovine, rat, and mouse Hcp1, respectively. They predicted that bovine Hcp1 has 12 transmembrane domains and intracellular N and C termini, and sequence analysis suggested that this structure is conserved among eukaryotes. RT-PCR detected HCP1 expression in human brain, breast, kidney, prostate, spleen, retina, and retinal pigment epithelium. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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>Shayeghi et al. (2005) determined that the SLC46A1 gene contains 5 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>Shayeghi et al. (2005) stated that the SLC46A1 gene maps to human chromosome 17q11.1 and to mouse chromosome 11B5. </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>Shayeghi et al. (2005) found that mouse Hcp1 mediated transmembrane uptake of heme in a temperature-dependent and saturable manner following expression in Xenopus oocytes and HeLa cells, and that HCP1 was specific for the porphyrin ring. Exposure of mice to hypoxia, which induces iron absorption, induced Hcp1 mRNA. In iron-deficient mouse duodenum, Hcp1 localized to the brush border membrane with little or no cytoplasmic staining. In contrast, Hcp1 appeared to accumulate in the cytoplasm, with no apical staining, in iron-loaded mice. </p><p>Latunde-Dada et al. (2006) showed that HCP1 mediated time- and temperature-dependent heme uptake in transfected Caco-2 intestinal cells. HCP1 mRNA expression increased after differentiation in Caco-2 cells, and this increase correlated with enhanced heme uptake during differentiation. Induction of heme oxygenase-1 (HMOX1; 141250), but not iron or iron chelation, induced HCP1 mRNA. </p><p>Qiu et al. (2006) identified PCFT as a proton-coupled high-affinity folate transporter that operates at low pH in the intestine. </p><p>Nakai et al. (2007) showed that PCFT expressed transiently in human embryonic kidney cells mediated transport of folate at an extracellular pH of 5.5 in a manner independent of Na+ and insensitive to membrane potential. Transport activity was absent at near-neutral pH. Folate transport was saturable and inhibited by reduced folates, including methotrexate. When expressed in canine kidney cells, PCFT mainly localized at the apical membrane, and cellular accumulation of methotrexate was higher from the apical side than from the basal side. Nakai et al. (2007) concluded that PCFT is responsible for intestinal absorption of folate and reduced folates. </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 family with hereditary folate malabsorption (229050), Qiu et al. (2006) identified a homozygous mutation in the SLC46A1 gene (611672.0001). </p><p>In 5 infants with hereditary folate malabsorption, Zhao et al. (2007) identified 6 different biallelic mutations in the SLC46A1 gene (see, e.g., 611672.0002-611672.0005). </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>10 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 FOLATE MALABSORPTION, HEREDITARY</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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SLC46A1, IVS2AS, G-A, -1
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<br />
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SNP: rs80338775,
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gnomAD: rs80338775,
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ClinVar: RCV000000898, RCV001851519, RCV002512627, RCV004757092
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 Puerto Rican sisters with hereditary folate malabsorption (229050) (Geller et al., 2002), Qiu et al. (2006) identified a homozygous G-to-A transition in intron 2 of the SLC46A1 gene, resulting in a splice site mutation and the skipping of exon 3. In vitro functional expression studies showed that the mutant protein was trapped intracellularly and lacked transport function. Each unaffected parent was heterozygous for the mutation. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 FOLATE MALABSORPTION, HEREDITARY</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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SLC46A1, 1-BP DEL, 194G
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<br />
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SNP: rs80338769,
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gnomAD: rs80338769,
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ClinVar: RCV000000899, RCV003555883
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In an African American boy with hereditary folate malabsorption (229050), Zhao et al. (2007) identified a homozygous 1-bp deletion (194delG) in the SLC46A1 gene, resulting in a frameshift and premature termination. In vitro functional expression studies showed that the mutant protein had no folate transport activity. </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 FOLATE MALABSORPTION, HEREDITARY</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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SLC46A1, ARG113SER
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<br />
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SNP: rs80338770,
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gnomAD: rs80338770,
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ClinVar: RCV000000900, RCV000059713
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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 Turkish girl with hereditary folate malabsorption (229050), Zhao et al. (2007) identified a homozygous 337C-A transversion in the SLC46A1 gene, resulting in an arg113-to-ser (R113S) substitution. In vitro functional expression studies showed that the mutant protein had no folate transport activity. The patient presented at 5 months of age with a history of fever, diarrhea, and convulsions. She was anemic and leukopenic, with a megaloblastic bone marrow and hypoimmunoglobulinemia. Despite treatment with parenteral folate, she had chronic seizures and persistent neurologic defects, including hemiplegia and mental retardation. She had previously been reported by Corbeel et al. (1985). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 FOLATE MALABSORPTION, HEREDITARY</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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SLC46A1, SER318ARG
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<br />
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SNP: rs80338772,
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gnomAD: rs80338772,
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ClinVar: RCV000000901, RCV000059717
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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 male infant with hereditary folate malabsorption (229050), Zhao et al. (2007) identified compound heterozygosity for 2 mutations in the SLC46A1 gene: a 954C-G transversion, resulting in a ser318-to-arg (S318R) substitution, and a 1126C-T transition, resulting in an arg376-to-trp (R376W; 611672.0005) substitution. The patient was of Spanish/Brazilian/Mexican origin and presented at age 4 months with severe macrocytic anemia and thrombocytopenia. He subsequently developed Pneumocystis carinii pneumonia. He had low serum folate and immunoglobulins. Treatment with folate replacement led to clinical improvement. An older sister had developed pancytopenia at age 3 months and died due to cytomegalovirus pneumonia. In vitro functional expression studies showed that both mutant protein lacked folate transport activity. </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>.0005 FOLATE MALABSORPTION, HEREDITARY</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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SLC46A1, ARG376TRP
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<br />
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SNP: rs80338773,
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gnomAD: rs80338773,
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ClinVar: RCV000000902, RCV000059710
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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 arg376-to-trp (R376W) mutation in the SLC46A1 gene that was found in compound heterozygous state in a patient with hereditary folate malabsorption (229050) by Zhao et al. (2007), see 611672.0004. </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>.0006 FOLATE MALABSORPTION, HEREDITARY</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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SLC46A1, ARG113CYS
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<br />
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SNP: rs80338770,
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gnomAD: rs80338770,
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ClinVar: RCV000000903, RCV000059714
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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 patient with hereditary folate malabsorption (229050), Lasry et al. (2008) identified a homozygous 337C-T transition in exon 2 of the in the SLC46A1 gene, resulting in an arg113-to-cys (R113C) substitution in the first intracellular loop connecting transmembrane helices 2 and 3. In vitro functional expression studies in Chinese hamster ovary (CHO) cells showed that the mutant protein was targeted to the plasma membrane but had significantly impaired folate transport activity. Another mutation at this codon (R113S; 611672.0003) was identified in another patient with the disorder. Bioinformatic analysis showed that the arg113 residue is highly conserved and faces the intramembrane hydrophobic pocket that may be part of a folate translocation pore. </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>.0007 FOLATE MALABSORPTION, HEREDITARY</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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SLC46A1, 1-BP INS, 17C
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<br />
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SNP: rs397515574,
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gnomAD: rs397515574,
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ClinVar: RCV000023910
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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 Tunisian patient, born of consanguineous parents, with hereditary folate malabsorption (229050), previously reported by Jebnoun et al., 2001, Shin et al. (2011) identified a homozygous 1-bp insertion (17insC) in the SLC46A1 gene, resulting in a frameshift and premature termination and predicted to result in complete loss of protein function. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0008 FOLATE MALABSORPTION, HEREDITARY</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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SLC46A1, ALA335ASP
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<br />
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SNP: rs281875208,
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gnomAD: rs281875208,
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ClinVar: RCV000023911, RCV000059708
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>In an English boy with hereditary folate malabsorption (229050), Shin et al. (2011) identified compound heterozygosity for 2 mutations in the SLC46A1 gene: a 1004C-A transversion in exon 2, resulting in an ala335-to-asp (A335D) substitution, and a 2-bp deletion (204_205delCC; 611672.0009) in exon 1, resulting in a frameshift and early termination. The A335D substitution occurred in the ninth transmembrane domain, and in vitro functional expression assays in Hela cells showed that the mutant protein was inactive with no folate uptake activity. The child developed Pneumocystis jiroveci pneumonia associated with anemia and undetectable plasma folate at age 2 months. He later showed delayed motor development, hyperreflexia, jerky movements, tremor, and proximal muscle wasting. Brain MRI at 3 years 9 months showed a slight delay in myelination. He improved neurologically with treatment, but had mild difficulty in fine motor skills and reading but good math skills. He developed occipital seizures at age 5 years. </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>.0009 FOLATE MALABSORPTION, HEREDITARY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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SLC46A1, 2-BP DEL, 204CC
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<br />
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SNP: rs397515391,
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ClinVar: RCV000023912
|
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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 2-bp deletion in the SLC46A1 gene (204_205delCC) that was found in compound heterozygous state in a patient with hereditary folate malabsorption (229050) by Shin et al. (2011), see 611672.0008. </p><p>In Turkish sibs with hereditary folate malabsorption, Atabay et al. (2010) identified a homozygous 2-bp deletion (204_205delCC) in exon 1 of the SLC46A1 gene, resulting in a frameshift and premature termination. Low blood and cerebrospinal fluid folate levels were detected at ages 3.5 and 1 month, respectively. Treatment with parenteral 5-formyltetrahydrofolate resulted in normal development by ages 3 and 1 year, respectively. </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>.0010 FOLATE MALABSORPTION, HEREDITARY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
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<div>
|
|
<span class="mim-text-font">
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|
SLC46A1, GLY338ARG
|
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|
|
|
<br />
|
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|
|
SNP: rs281875209,
|
|
|
|
|
|
gnomAD: rs281875209,
|
|
|
|
|
|
ClinVar: RCV000023913, RCV000059709
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an 8-year-old Tunisian boy, born of consanguineous parents, with hereditary folate malabsorption (229050), Shin et al. (2011) identified a homozygous 1012G-C transversion in the SLC46A1 gene, resulting in a gly338-to-arg (G338R) substitution in the ninth transmembrane domain. In vitro functional expression assays in Hela cells showed that the mutant protein was inactive with no folate uptake activity. The patient developed macrocytic anemia with low serum folate at age 2.5 months. He was treated with leucovorin, which corrected the anemia and axial hypertonia. EEG and head CT scan were normal. Two affected sibs had died. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Atabay, B., Turker, M., Ozer, E. A., Mahadeo, K., Diop-Bove, N., Goldman, I. D.
|
|
<strong>Mutation of the proton-coupled folate transporter gene (PCFT-SLC46A1) in Turkish siblings with hereditary folate malabsorption.</strong>
|
|
Pediat. Hemat. Oncol. 27: 614-619, 2010.
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|
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|
|
[PubMed: 20795774]
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[Full Text: https://doi.org/10.3109/08880018.2010.481705]
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</p>
|
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</li>
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|
<li>
|
|
<p class="mim-text-font">
|
|
Corbeel, L., Van den Berghe, G., Jaeken, J., Van Tornout, J., Eeckels, R.
|
|
<strong>Congenital folate malabsorption.</strong>
|
|
Europ. J. Pediat. 143: 284-290, 1985.
|
|
|
|
|
|
[PubMed: 3987728]
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|
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|
|
[Full Text: https://doi.org/10.1007/BF00442302]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Geller, J., Kronn, D., Jayabose, S., Sandoval, C.
|
|
<strong>Hereditary folate malabsorption: family report and review of the literature.</strong>
|
|
Medicine 81: 51-68, 2002.
|
|
|
|
|
|
[PubMed: 11807405]
|
|
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|
|
[Full Text: https://doi.org/10.1097/00005792-200201000-00004]
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</p>
|
|
</li>
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|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Jebnoun, S., Kacem, S., Mokrani, C., Chabchoub, A., Khrouf, N., Zittoun, J.
|
|
<strong>A family study of congenital malabsorption of folate.</strong>
|
|
J. Inherit. Metab. Dis. 24: 749-750, 2001.
|
|
|
|
|
|
[PubMed: 11804211]
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|
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|
|
[Full Text: https://doi.org/10.1023/a:1012905823879]
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Lasry, I., Berman, B., Straussberg, R., Sofer, Y., Bessler, H., Sharkia, M., Glaser, F., Jansen, F., Drori, S., Assaraf, Y. G.
|
|
<strong>A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function.</strong>
|
|
Blood 112: 2055-2061, 2008.
|
|
|
|
|
|
[PubMed: 18559978]
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|
|
[Full Text: https://doi.org/10.1182/blood-2008-04-150276]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Latunde-Dada, G. O., Takeuchi, K., Simpson, R. J., McKie, A. T.
|
|
<strong>Haem carrier protein 1 (HCP1): expression and functional studies in cultured cells.</strong>
|
|
FEBS Lett. 580: 6865-6870, 2006.
|
|
|
|
|
|
[PubMed: 17156779]
|
|
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|
|
[Full Text: https://doi.org/10.1016/j.febslet.2006.11.048]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Nakai, Y., Inoue, K., Abe, N., Hatakeyama, M., Ohta, K., Otagiri, M., Hayashi, Y., Yuasa, H.
|
|
<strong>Functional characterization of human proton-coupled folate transporter/heme carrier protein 1 heterologously expressed in mammalian cells as a folate transporter.</strong>
|
|
J. Pharm. Exp. Ther. 322: 469-476, 2007.
|
|
|
|
|
|
[PubMed: 17475902]
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|
|
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|
|
[Full Text: https://doi.org/10.1124/jpet.107.122606]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Qiu, A., Jansen, M., Sakaris, A., Min, S. H., Chattopadhyay, S., Tsai, E., Sandoval, C., Zhao, R., Akabas, M. H., Goldman, I. D.
|
|
<strong>Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption.</strong>
|
|
Cell 127: 917-928, 2006.
|
|
|
|
|
|
[PubMed: 17129779]
|
|
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|
|
[Full Text: https://doi.org/10.1016/j.cell.2006.09.041]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Sharma, S., Dimasi, D., Broer, S., Kumar, R., Della, N. G.
|
|
<strong>Heme carrier protein 1 (HCP1) expression and functional analysis in the retina and retinal pigment epithelium.</strong>
|
|
Exp. Cell Res. 313: 1251-1259, 2007.
|
|
|
|
|
|
[PubMed: 17335806]
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|
|
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|
|
[Full Text: https://doi.org/10.1016/j.yexcr.2007.01.019]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Shayeghi, M., Latunde-Dada, G. O., Oakhill, J. S., Laftah, A. H., Takeuchi, K., Halliday, N., Khan, Y., Warley, A., McCann, F. E., Hider, R. C., Frazer, D. M., Anderson, G. J., Vulpe, C. D., Simpson, R. J., McKie, A. T.
|
|
<strong>Identification of an intestinal heme transporter.</strong>
|
|
Cell 122: 789-801, 2005.
|
|
|
|
|
|
[PubMed: 16143108]
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|
|
[Full Text: https://doi.org/10.1016/j.cell.2005.06.025]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Shin, D. S., Mahadeo, K., Min, S. H., Diop-Bove, N., Clayton, P., Zhao, R., Goldman, I. D.
|
|
<strong>Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption.</strong>
|
|
Molec. Genet. Metab. 103: 33-37, 2011.
|
|
|
|
|
|
[PubMed: 21333572]
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|
|
[Full Text: https://doi.org/10.1016/j.ymgme.2011.01.008]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Zhao, R., Min, S. H., Qiu, A., Sakaris, A., Goldberg, G. L., Sandoval, C., Malatack, J. J., Rosenblatt, D. S., Goldman, I. D.
|
|
<strong>The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption.</strong>
|
|
Blood 110: 1147-1152, 2007.
|
|
|
|
|
|
[PubMed: 17446347]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1182/blood-2007-02-077099]
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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 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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Contributors:
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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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Cassandra L. Kniffin - updated : 5/19/2011<br>Cassandra L. Kniffin - updated : 4/20/2009
|
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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>
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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 : 12/13/2007
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</span>
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</div>
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</div>
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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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mcolton : 06/15/2015<br>carol : 9/12/2013<br>wwang : 6/6/2011<br>ckniffin : 5/19/2011<br>wwang : 4/23/2009<br>wwang : 4/20/2009<br>ckniffin : 4/20/2009<br>mgross : 12/13/2007
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