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Entry
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- *158378 - SOLUTE CARRIER FAMILY 20 (PHOSPHATE TRANSPORTER), MEMBER 2; SLC20A2
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- OMIM
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<p>
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<span class="h4">*158378</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<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/158378">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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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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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000168575;t=ENST00000520262" 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=6575" 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=158378" 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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<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=ENSG00000168575;t=ENST00000520262" 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_001257180,NM_001257181,NM_006749,XM_005273613,XM_006716390,XM_017013748,XM_017013749,XM_017013752,XM_024447235,XM_024447236,XM_024447237,XM_047422120,XM_047422121,XM_047422122,XM_047422123,XM_047422124" 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_001257180" 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=158378" 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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<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=08865&isoform_id=08865_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/SLC20A2" 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/306772,5803173,20306797,74735615,119583617,119583618,119583619,158255840,189054538,194381558,308219166,380503859,380503862,452916854,530388000,578815470,1034661254,1034661257,1034661265,1370512760,1370512762,1370512767,2217372901,2217372903,2217372905,2217372909,2217372911,2462620678,2462620680,2462620682,2462620685,2462620687,2462620689,2462620691,2462620693,2462620695,2462620697,2462620699,2462620701,2462620703" 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/Q08357" 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 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=6575" 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=ENSG00000168575;t=ENST00000520262" 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=SLC20A2" 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=SLC20A2" 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+6575" 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/SLC20A2" 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:6575" 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/6575" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr8&hgg_gene=ENST00000520262.6&hgg_start=42416475&hgg_end=42541954&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 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/slc20a2" 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=158378[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=158378[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/ENSG00000168575" 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=SLC20A2" 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=SLC20A2" 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=SLC20A2" 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=SLC20A2&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/PA35834" 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:10947" 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/FBgn0260795.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:97851" 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/SLC20A2#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:97851" 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/6575/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=6575" 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=WBGene00007141;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00007141 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00012285;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00012285 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00015054;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00015054 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00015055;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00015055 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00016739;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00016739 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00017312;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00017312 </a></div>
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</div>
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<div><a href="https://zfin.org/ZDB-GENE-060929-828" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=SLC20A2&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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158378
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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 20 (PHOSPHATE TRANSPORTER), MEMBER 2; SLC20A2
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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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PHOSPHATE TRANSPORTER, SODIUM-DEPENDENT, 2; PIT2<br />
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GIBBON APE LEUKEMIA RETROVIRUS RECEPTOR 2; GLVR2<br />
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MURINE LEUKEMIA VIRUS, AMPHOTROPIC, RECEPTOR FOR; MLVAR<br />
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RECEPTOR FOR AMPHOTROPIC MURINE RETROVIRUS; RAM1
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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=SLC20A2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SLC20A2</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/8/236?start=-3&limit=10&highlight=236">8p11.21</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr8:42416475-42541954&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">8:42,416,475-42,541,954</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/8/236?start=-3&limit=10&highlight=236">
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8p11.21
|
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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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Basal ganglia calcification, idiopathic, 1
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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/213600"> 213600 </a>
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/158378" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<p>The SLC20A2 gene encodes an inorganic phosphate transporter that belongs to the type III sodium-dependent phosphate transporter family (see SLC20A1, <a href="/entry/137570">137570</a>). These genes show broad expression in a variety of tissues and likely play a housekeeping role in cellular phosphate uptake (summary by <a href="#17" class="mim-tip-reference" title="Wang, C., Li, Y., Shi, L., Ren, J., Patti, M., Wang, T., de Oliveira, J. R. M., Sobrido, M.-J., Quintans, B., Baquero, M., Cui, X., Zhang, X.-Y., and 16 others. <strong>Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.</strong> Nature Genet. 44: 254-256, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22327515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22327515</a>] [<a href="https://doi.org/10.1038/ng.1077" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22327515">Wang et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22327515" 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>The host range of retroviruses is determined primarily by the presence of specific receptors on target cells that are recognized by retroviral envelope glycoproteins. <a href="#9" class="mim-tip-reference" title="Kaelbling, M., Eddy, R., Shows, T. B., Copeland, N. G., Gilbert, D. J., Jenkins, N. A., Klinger, H. P., O'Hara, B. <strong>Localization of the human gene allowing infection by Gibbon ape leukemia virus to human chromosome region 2q11-q14 and to the homologous region on mouse chromosome 2.</strong> J. Virol. 65: 1743-1747, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1672162/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1672162</a>] [<a href="https://doi.org/10.1128/JVI.65.4.1743-1747.1991" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1672162">Kaelbling et al. (1991)</a> described a receptor for the gibbon ape leukemia retrovirus. In an effort to isolate related human genes, van Zeijl et al. (<a href="#14" class="mim-tip-reference" title="van Zeijl, M., Johann, S. V., Eddy, R. L., Shows, T. B., O'Hara, B. <strong>Assignment of GLVR2, a receptor for murine amphotropic virus to human chromosome 8. (Abstract)</strong> Human Genome Mapping Workshop 93, Kobe, Japan 1993. P. 18."None>1993</a>, <a href="#13" class="mim-tip-reference" title="van Zeijl, M., Johann, S. V., Closs, E., Cunningham, J., Eddy, R., Shows, T. B., O'Hara, B. <strong>A human amphotropic retrovirus receptor is a second member of the gibbon ape leukemia virus receptor family.</strong> Proc. Nat. Acad. Sci. 91: 1168-1172, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8302848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8302848</a>] [<a href="https://doi.org/10.1073/pnas.91.3.1168" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8302848">1994</a>) screened a human cDNA library at low stringency using GLVR1 (<a href="/entry/137570">137570</a>) as a probe. A single GLVR1-related cDNA, designated GLVR2, was isolated. The deduced 652-amino acid GLVR2 protein contains 10 predicted transmembrane domains and shares 62% identity with GLVR1. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8302848+1672162" 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>Using human-Chinese hamster somatic cell hybrids and a retroviral vector, <a href="#3" class="mim-tip-reference" title="Garcia, J. V., Jones, C., Miller, A. D. <strong>Localization of the amphotropic murine leukemia virus receptor gene to the pericentromeric region of human chromosome 8.</strong> J. Virol. 65: 6316-6319, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1656098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1656098</a>] [<a href="https://doi.org/10.1128/JVI.65.11.6316-6319.1991" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1656098">Garcia et al. (1991)</a> mapped the receptor for the amphotropic murine leukemia virus to the pericentromeric region of human chromosome 8. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1656098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using a somatic cell hybrid panel, <a href="#13" class="mim-tip-reference" title="van Zeijl, M., Johann, S. V., Closs, E., Cunningham, J., Eddy, R., Shows, T. B., O'Hara, B. <strong>A human amphotropic retrovirus receptor is a second member of the gibbon ape leukemia virus receptor family.</strong> Proc. Nat. Acad. Sci. 91: 1168-1172, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8302848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8302848</a>] [<a href="https://doi.org/10.1073/pnas.91.3.1168" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8302848">van Zeijl et al. (1994)</a> mapped the GLVR2 gene to human chromosome 8, a location distinct from that for GLVR1, which maps to human chromosome 2. The location of GLVR2 on chromosome 8 highlighted the possibility that the locus may encode a receptor for the murine amphotropic virus because a receptor gene (MLVAR) for this virus was mapped to chromosome 8 by <a href="#3" class="mim-tip-reference" title="Garcia, J. V., Jones, C., Miller, A. D. <strong>Localization of the amphotropic murine leukemia virus receptor gene to the pericentromeric region of human chromosome 8.</strong> J. Virol. 65: 6316-6319, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1656098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1656098</a>] [<a href="https://doi.org/10.1128/JVI.65.11.6316-6319.1991" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1656098">Garcia et al. (1991)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1656098+8302848" 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="#5" class="mim-tip-reference" title="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 3/11/2016."None>Gross (2016)</a> mapped the SLC20A2 gene to chromosome 8p11.21 based on an alignment of the SLC20A2 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=BC028600" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">BC028600</a>) with the genomic sequence (GRCh38).</p>
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<p><a href="#13" class="mim-tip-reference" title="van Zeijl, M., Johann, S. V., Closs, E., Cunningham, J., Eddy, R., Shows, T. B., O'Hara, B. <strong>A human amphotropic retrovirus receptor is a second member of the gibbon ape leukemia virus receptor family.</strong> Proc. Nat. Acad. Sci. 91: 1168-1172, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8302848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8302848</a>] [<a href="https://doi.org/10.1073/pnas.91.3.1168" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8302848">Van Zeijl et al. (1994)</a> found that expression of human GLVR2 in CHO-K1 cells, which are resistant to infection by amphotropic virus because they lack a receptor, rendered the cells sensitive to infection by the virus. Thus, the authors concluded that GLVR2 is a receptor for amphotropic virus. <a href="#13" class="mim-tip-reference" title="van Zeijl, M., Johann, S. V., Closs, E., Cunningham, J., Eddy, R., Shows, T. B., O'Hara, B. <strong>A human amphotropic retrovirus receptor is a second member of the gibbon ape leukemia virus receptor family.</strong> Proc. Nat. Acad. Sci. 91: 1168-1172, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8302848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8302848</a>] [<a href="https://doi.org/10.1073/pnas.91.3.1168" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8302848">Van Zeijl et al. (1994)</a> pointed out that expression of the GLVR2 protein might be a requirement for infection of human cells by amphotropic retroviral vectors for purposes of gene therapy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8302848" 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 expression in Xenopus oocytes and rat fibroblasts, <a href="#10" class="mim-tip-reference" title="Kavanaugh, M. P., Miller, D. G., Zhang, W., Law, W., Kozak, S. L., Kabat, D., Miller, A. D. <strong>Cell-surface receptors for gibbon ape leukemia virus and amphotropic murine retrovirus are inducible sodium-dependent phosphate symporters.</strong> Proc. Nat. Acad. Sci. 91: 7071-7075, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8041748/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8041748</a>] [<a href="https://doi.org/10.1073/pnas.91.15.7071" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8041748">Kavanaugh et al. (1994)</a> identified rat Slc20a2, which they called Ram1, as a sodium-dependent phosphate symporter. Voltage-clamp analysis showed net cation influx, suggesting that phosphate is transported with excess sodium ions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8041748" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using RT-PCR analysis, <a href="#8" class="mim-tip-reference" title="Inden, M., Iriyama, M., Zennami, M., Sekine, S., Hara, A., Yamada, M., Hozumi, I. <strong>The type III transporters (PiT-1 and PiT-2) are the major sodium-dependent phosphate transporters in the mice and human brains.</strong> Brain Res. 1637: 128-136, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26923164/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26923164</a>] [<a href="https://doi.org/10.1016/j.brainres.2016.02.032" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26923164">Inden et al. (2016)</a> showed that SLC20A1 and SLC20A2 were widely expressed throughout mouse and human brain, with highest expression in cerebellum. In cerebellum, SLC20A1 and SLC20A2 colocalized in neurons, astrocytes, and vascular endothelial cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26923164" 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 7 families with idiopathic basal ganglia calcification-1 (IBGC1; <a href="/entry/213600">213600</a>), <a href="#17" class="mim-tip-reference" title="Wang, C., Li, Y., Shi, L., Ren, J., Patti, M., Wang, T., de Oliveira, J. R. M., Sobrido, M.-J., Quintans, B., Baquero, M., Cui, X., Zhang, X.-Y., and 16 others. <strong>Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.</strong> Nature Genet. 44: 254-256, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22327515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22327515</a>] [<a href="https://doi.org/10.1038/ng.1077" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22327515">Wang et al. (2012)</a> identified 7 different heterozygous mutations in the SLC20A2 gene (see, e.g., <a href="#0001">158378.0001</a>-<a href="#0005">158378.0005</a>) that segregated with the disorder. Three families were of Chinese origin, 3 of Spanish origin, and 1 was Brazilian. In vitro functional expression studies in Xenopus oocytes showed that all the missense mutations resulted in substantially impaired transport of inorganic phosphate. However, expression of 2 mutant missense proteins with wildtype SLC20A2 did not result in diminished transport activity, suggesting haploinsufficiency as a pathogenic mechanism. <a href="#17" class="mim-tip-reference" title="Wang, C., Li, Y., Shi, L., Ren, J., Patti, M., Wang, T., de Oliveira, J. R. M., Sobrido, M.-J., Quintans, B., Baquero, M., Cui, X., Zhang, X.-Y., and 16 others. <strong>Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.</strong> Nature Genet. 44: 254-256, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22327515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22327515</a>] [<a href="https://doi.org/10.1038/ng.1077" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22327515">Wang et al. (2012)</a> postulated that functional loss of SLC20A2 in the brain may result in regional accumulation of inorganic phosphate in the extracellular matrix, causing calcium phosphate deposition. No genotype/phenotype correlations were observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22327515" 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 13 (41%) of 29 families with IBGC, <a href="#7" class="mim-tip-reference" title="Hsu, S. C., Sears, R. L., Lemos, R. R., Quintans, B., Huang, A., Spiteri, E., Nevarez, L., Mamah, C., Zatz, M., Pierce, K. D., Fullerton, J. M., Adair, J. C., and 40 others. <strong>Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.</strong> Neurogenetics 14: 11-22, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23334463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23334463</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23334463[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1007/s10048-012-0349-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23334463">Hsu et al. (2013)</a> identified 13 different heterozygous mutations in the SLC20A2 gene (see, e.g., <a href="#0003">158378.0003</a> and <a href="#0006">158378.0006</a>-<a href="#0008">158378.0008</a>). Variants predicted to be deleterious cosegregated with the disease in 5 families. No carriers of SLC20A2 variants were unaffected, suggesting 100% sensitivity of the clinical or CT evaluation. In contrast, several individuals in 3 large families who received an affected disease status based upon clinical examination or CT scan did not carry mutations. <a href="#7" class="mim-tip-reference" title="Hsu, S. C., Sears, R. L., Lemos, R. R., Quintans, B., Huang, A., Spiteri, E., Nevarez, L., Mamah, C., Zatz, M., Pierce, K. D., Fullerton, J. M., Adair, J. C., and 40 others. <strong>Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.</strong> Neurogenetics 14: 11-22, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23334463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23334463</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23334463[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1007/s10048-012-0349-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23334463">Hsu et al. (2013)</a> noted that CT calcifications may be found in up to 1% of the general population, and that a wide range of neuropsychiatric manifestations can be considered part of the disorder. The findings established SLC20A2 as a key gene for familial IBGC. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23334463" 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 an Italian family with IBGC, originally reported by <a href="#16" class="mim-tip-reference" title="Volpato, C. B., De Grandi, A., Buffone, E., Pichler, I., Gebert, U., Schifferle, G., Schonhuber, R., Pramstaller, P. P. <strong>Exclusion of linkage to chromosome 14q in a large South Tyrolean family with idiopathic basal ganglia calcification (IBGC).</strong> Am. J. Med. Genet. 147B: 1319-1322, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18361429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18361429</a>] [<a href="https://doi.org/10.1002/ajmg.b.30748" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18361429">Volpato et al. (2008)</a>, <a href="#6" class="mim-tip-reference" title="Grutz, K., Volpato, C. B., Domingo, A., Alvarez-Fischer, D., Gebert, U., Schifferle, G., Buffone, E., Wszolek, Z. K., Rademakers, R., Ferbert, A., Hicks, A. A., Klein, C., Pramstaller, P. P., Westenberger, A. <strong>Primary familial brain calcification in the 'IBGC2' kindred: all linkage roads lead to SLC20A2.</strong> Mov. Disord. 31: 1901-1904, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27671522/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27671522</a>] [<a href="https://doi.org/10.1002/mds.26768" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27671522">Grutz et al. (2016)</a> identified heterozygosity for a large deletion in the SLC20A2 gene (<a href="#0009">158378.0009</a>). <a href="#16" class="mim-tip-reference" title="Volpato, C. B., De Grandi, A., Buffone, E., Pichler, I., Gebert, U., Schifferle, G., Schonhuber, R., Pramstaller, P. P. <strong>Exclusion of linkage to chromosome 14q in a large South Tyrolean family with idiopathic basal ganglia calcification (IBGC).</strong> Am. J. Med. Genet. 147B: 1319-1322, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18361429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18361429</a>] [<a href="https://doi.org/10.1002/ajmg.b.30748" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18361429">Volpato et al. (2008)</a> had excluded linkage of the disorder in this family to chromosome 14 and <a href="#15" class="mim-tip-reference" title="Volpato, C. B., De Grandi, A., Buffone, E., Facheris, M., Gebert, U., Schifferle, G., Schonhuber, R., Hicks, A., Pramstaller, P. P. <strong>2q37 as a susceptibility locus for idiopathic basal ganglia calcification (IBGC) in a large South Tyrolean family.</strong> J. Molec. Neurosci. 39: 346-353, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19757205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19757205</a>] [<a href="https://doi.org/10.1007/s12031-009-9287-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19757205">Volpato et al. (2009)</a> had erroneously mapped it to 2q37; the locus had previously been designated IBGC2. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18361429+27671522+19757205" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span id="mimAllelicVariantsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>9 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=158378[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1</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">rs1586022262 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1586022262;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=rs1586022262" 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=rs1586022262" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of the 5-generation Chinese family with idiopathic basal ganglia calcification-1 (IBGC1; <a href="/entry/213600">213600</a>) originally reported by <a href="#2" class="mim-tip-reference" title="Dai, X., Gao, Y., Xu, Z., Cui, X., Liu, J., Li, Y., Xu, H., Liu, M., Wang, Q. K., Liu, J. Y. <strong>Identification of a novel genetic locus on chromosome 8p21.1-q11.23 for idiopathic basal ganglia calcification.</strong> Am. J. Med. Genet. 153B: 1305-1310, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20552677/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20552677</a>] [<a href="https://doi.org/10.1002/ajmg.b.31102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20552677">Dai et al. (2010)</a>, <a href="#17" class="mim-tip-reference" title="Wang, C., Li, Y., Shi, L., Ren, J., Patti, M., Wang, T., de Oliveira, J. R. M., Sobrido, M.-J., Quintans, B., Baquero, M., Cui, X., Zhang, X.-Y., and 16 others. <strong>Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.</strong> Nature Genet. 44: 254-256, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22327515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22327515</a>] [<a href="https://doi.org/10.1038/ng.1077" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22327515">Wang et al. (2012)</a> identified a heterozygous 1492G-A transition in the SLC20A2 gene, resulting in a gly498-to-arg (G498R) substitution in a highly conserved residue in transmembrane domain VIII. The mutation was not found in 508 Chinese controls, in the 1000 Genomes Project database, or in 2,439 control exomes. In vitro functional expression studies in Xenopus oocytes showed that the mutation resulted in substantially impaired transport of inorganic phosphate. In this family, 9 individuals had idiopathic basal ganglia calcification, but only 4 had clinical symptoms of headache, 1 also with depression; 5 were asymptomatic. Brain imaging of the 36-year-old proband showed symmetric calcium deposition in the caudate nucleus, lentiform nucleus, globus pallidus, inferior part of thalamus, and occipitalis lobes. All were adults, except for 1 asymptomatic 9-year-old boy, who had calcifications only in the globus pallidus. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22327515+20552677" 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> rs387906652 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906652;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/rs387906652?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=rs387906652" 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=rs387906652" 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=RCV000172920" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000172920" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000172920</a>
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<p>In affected members of a 4-generation Chinese family with idiopathic basal ganglia calcification-1 (IBGC1; <a href="/entry/213600">213600</a>), <a href="#17" class="mim-tip-reference" title="Wang, C., Li, Y., Shi, L., Ren, J., Patti, M., Wang, T., de Oliveira, J. R. M., Sobrido, M.-J., Quintans, B., Baquero, M., Cui, X., Zhang, X.-Y., and 16 others. <strong>Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.</strong> Nature Genet. 44: 254-256, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22327515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22327515</a>] [<a href="https://doi.org/10.1038/ng.1077" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22327515">Wang et al. (2012)</a> identified a heterozygous 1802C-G transversion in the SLC20A2 gene, resulting in a ser601-to-trp (S601W) substitution in a highly conserved residue in transmembrane domain XI. The mutation was not found in 508 Chinese controls, the 1000 Genomes Project, or 2,439 control exomes. In vitro functional expression studies in Xenopus oocytes showed that the mutation resulted in substantially impaired transport of inorganic phosphate. However, expression of the mutant protein with wildtype SLC20A2 did not result in diminished transport activity. Five patients were clinically asymptomatic and 1 had parkinsonism and cerebral infarction at age 73 years. Brain imaging showed calcium deposition primarily limited to the basal ganglia and inferior part of the thalamus. However, 2 affected sisters had a much more severe disorder, with early-onset epilepsy, developmental delay, and mental retardation. Brain imaging of these 2 girls showed marked symmetric calcium deposition in the basal ganglia, inferior part of the thalamus, cerebellum, frontal, temporal, and occipital cortices, and subcortex. These 2 girls were found to carry a heterozygous S601W mutation inherited from their affected father, as well as a ser121-to-cys (S121C) substitution in the SLC20A2 gene inherited from their unaffected mother. The S121C substitution was not found in 508 Chinese controls, but did not show a significant impairment of SLC20A2 transport activity. Thus, its contribution to the severe phenotype lacked clearly supportive evidence. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22327515" 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> rs387906652 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906652;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/rs387906652?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=rs387906652" 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=rs387906652" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 affected members of a Chinese family with idiopathic basal ganglia calcification-1 (IBGC1; <a href="/entry/213600">213600</a>), <a href="#17" class="mim-tip-reference" title="Wang, C., Li, Y., Shi, L., Ren, J., Patti, M., Wang, T., de Oliveira, J. R. M., Sobrido, M.-J., Quintans, B., Baquero, M., Cui, X., Zhang, X.-Y., and 16 others. <strong>Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.</strong> Nature Genet. 44: 254-256, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22327515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22327515</a>] [<a href="https://doi.org/10.1038/ng.1077" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22327515">Wang et al. (2012)</a> identified a heterozygous 1802C-T transition in the SLC20A2 gene, resulting in a ser601-to-leu (S601L) substitution in a highly conserved residue in transmembrane domain XI. The mutation was not found in 508 Chinese controls, the 1000 Genomes Project, or in 2,439 control exomes. In vitro functional expression studies in Xenopus oocytes showed that the mutation resulted in substantially impaired transport of inorganic phosphate. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22327515" 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="Hsu, S. C., Sears, R. L., Lemos, R. R., Quintans, B., Huang, A., Spiteri, E., Nevarez, L., Mamah, C., Zatz, M., Pierce, K. D., Fullerton, J. M., Adair, J. C., and 40 others. <strong>Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.</strong> Neurogenetics 14: 11-22, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23334463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23334463</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23334463[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1007/s10048-012-0349-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23334463">Hsu et al. (2013)</a> identified a heterozygous S601L substitution in the SLC20A2 gene in a patient (family F23) with IBGC1 who was of Ashkenazi Jewish and Russian descent. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23334463" 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">rs387906653 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906653;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=rs387906653" 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=rs387906653" 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=RCV000022665" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022665" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022665</a>
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<p>In 2 affected members of a Spanish family with idiopathic basal ganglia calcification-1 (IBCG1; <a href="/entry/213600">213600</a>), <a href="#17" class="mim-tip-reference" title="Wang, C., Li, Y., Shi, L., Ren, J., Patti, M., Wang, T., de Oliveira, J. R. M., Sobrido, M.-J., Quintans, B., Baquero, M., Cui, X., Zhang, X.-Y., and 16 others. <strong>Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.</strong> Nature Genet. 44: 254-256, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22327515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22327515</a>] [<a href="https://doi.org/10.1038/ng.1077" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22327515">Wang et al. (2012)</a> identified a heterozygous 1723G-A transition in the SLC20A2 gene, resulting in a glu575-to-lys (E575K) substitution in a highly conserved residue in transmembrane domain X. The mutation was not found in 288 Spanish controls, the 1000 Genomes Project, or in 2,439 control exomes. In vitro functional expression studies in Xenopus oocytes showed that the mutation resulted in substantially impaired transport of inorganic phosphate. However, expression of the mutant protein with wildtype SLC20A2 did not result in diminished transport activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22327515" 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> rs387906654 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906654;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/rs387906654?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=rs387906654" 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=rs387906654" 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=RCV000022666 OR RCV002513170" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022666, RCV002513170" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022666...</a>
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<p>In a Spanish patient with idiopathic basal ganglia calcification-1 (IBGC1; <a href="/entry/213600">213600</a>), <a href="#17" class="mim-tip-reference" title="Wang, C., Li, Y., Shi, L., Ren, J., Patti, M., Wang, T., de Oliveira, J. R. M., Sobrido, M.-J., Quintans, B., Baquero, M., Cui, X., Zhang, X.-Y., and 16 others. <strong>Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.</strong> Nature Genet. 44: 254-256, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22327515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22327515</a>] [<a href="https://doi.org/10.1038/ng.1077" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22327515">Wang et al. (2012)</a> identified a heterozygous 1784C-T transition in the SLC20A2 gene, resulting in a thr595-to-met (T595M) substitution in a highly conserved residue in transmembrane domain XI. The mutation was not found in 288 Spanish controls, the 1000 Genomes Project, or 2,439 control exomes. In vitro functional expression studies in Xenopus oocytes showed that the mutation resulted in substantially impaired transport of inorganic phosphate. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22327515" 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> rs398122395 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398122395;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/rs398122395?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=rs398122395" 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=rs398122395" 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=RCV000066204 OR RCV000303018 OR RCV003409398" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000066204, RCV000303018, RCV003409398" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000066204...</a>
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<p>In 9 affected members of a large multigenerational family (F1) with idiopathic basal ganglia calcification-1 (IBGC1; <a href="/entry/213600">213600</a>), originally reported by <a href="#4" class="mim-tip-reference" title="Geschwind, D. H., Loginov, M., Stern, J. M. <strong>Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease).</strong> Am. J. Hum. Genet. 65: 764-772, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10441584/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10441584</a>] [<a href="https://doi.org/10.1086/302558" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10441584">Geschwind et al. (1999)</a>, <a href="#7" class="mim-tip-reference" title="Hsu, S. C., Sears, R. L., Lemos, R. R., Quintans, B., Huang, A., Spiteri, E., Nevarez, L., Mamah, C., Zatz, M., Pierce, K. D., Fullerton, J. M., Adair, J. C., and 40 others. <strong>Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.</strong> Neurogenetics 14: 11-22, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23334463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23334463</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23334463[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1007/s10048-012-0349-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23334463">Hsu et al. (2013)</a> identified a heterozygous 1-bp deletion (c.508delC) in exon 4 of the SLC20A2 gene, resulting in a frameshift and premature termination (Leu170Ter). The family was previously reported to show linkage to a locus on chromosome 14q13, but <a href="#7" class="mim-tip-reference" title="Hsu, S. C., Sears, R. L., Lemos, R. R., Quintans, B., Huang, A., Spiteri, E., Nevarez, L., Mamah, C., Zatz, M., Pierce, K. D., Fullerton, J. M., Adair, J. C., and 40 others. <strong>Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.</strong> Neurogenetics 14: 11-22, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23334463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23334463</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23334463[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1007/s10048-012-0349-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23334463">Hsu et al. (2013)</a> demonstrated that the mutation responsible for the phenotype was in the SLC20A2 gene on chromosome 8p. Two individuals who were clinically affected and were part of the original linkage study were found not to carry the mutation, which may have contributed to the previous erroneous linkage results. The variant was not present in the dbSNP, NHLBI Exome Variant Server, or 1000 Genomes Project databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10441584+23334463" 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">rs398122396 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398122396;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=rs398122396" 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=rs398122396" 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=RCV000066206 OR RCV004730869" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000066206, RCV004730869" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000066206...</a>
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<p>In 9 affected members of a family (F2) with idiopathic basal ganglia calcification-1 (IBGC1; <a href="/entry/213600">213600</a>), originally reported by <a href="#1" class="mim-tip-reference" title="Brodaty, H., Mitchell, P., Luscombe, G., Kwok, J. B. J., Badenhop, R. F., McKenzie, R., Schofield, P. R. <strong>Familial idiopathic basal ganglia calcification (Fahr's disease) without neurological, cognitive and psychiatric symptoms is not linked to the IBGC1 locus on chromosome 14q.</strong> Hum. Genet. 110: 8-14, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11810290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11810290</a>] [<a href="https://doi.org/10.1007/s00439-001-0650-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11810290">Brodaty et al. (2002)</a>, <a href="#7" class="mim-tip-reference" title="Hsu, S. C., Sears, R. L., Lemos, R. R., Quintans, B., Huang, A., Spiteri, E., Nevarez, L., Mamah, C., Zatz, M., Pierce, K. D., Fullerton, J. M., Adair, J. C., and 40 others. <strong>Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.</strong> Neurogenetics 14: 11-22, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23334463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23334463</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23334463[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1007/s10048-012-0349-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23334463">Hsu et al. (2013)</a> identified a heterozygous 4-bp deletion (c.1828_1831delTCCC) in exon 11 of the SLC20A2 gene, resulting in a frameshift and premature termination (Ser610AlafsTer17). The variant was not present in the dbSNP, NHLBI Exome Variant Server, or 1000 Genomes Project databases. One clinically affected family member did not carry the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11810290+23334463" 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>.0008 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1</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">rs398122397 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398122397;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=rs398122397" 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=rs398122397" 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=RCV000066208 OR RCV000793976" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000066208, RCV000793976" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000066208...</a>
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<p>In 8 affected members of a family (F5) of Irish-English descent with idiopathic basal ganglia calcification-1 (IBGC1; <a href="/entry/213600">213600</a>), previously reported by <a href="#11" class="mim-tip-reference" title="Manyam, B. V., Walters, A. S., Keller, I. A., Ghobrial, M. <strong>Parkinsonism associated with autosomal dominant bilateral striopallidodentate calcinosis.</strong> Parkinsonism Relat. Disord. 7: 289-295, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11344012/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11344012</a>] [<a href="https://doi.org/10.1016/s1353-8020(00)00036-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11344012">Manyam et al. (2001)</a> and <a href="#12" class="mim-tip-reference" title="Oliveira, J. R. M., Spiteri, E., Sobrido, M. J., Hopfer, S., Klepper, J., Voit, T., Gilbert, J., Wszolek, Z. K., Calne, D. B., Stoessl, A. J., Hutton, M., Manyam, B. V., Boller, F., Baquero, M., Geschwind, D. H. <strong>Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease).</strong> Neurology 63: 2165-2167, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15596772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15596772</a>] [<a href="https://doi.org/10.1212/01.wnl.0000145601.88274.88" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15596772">Oliveira et al. (2004)</a>, <a href="#7" class="mim-tip-reference" title="Hsu, S. C., Sears, R. L., Lemos, R. R., Quintans, B., Huang, A., Spiteri, E., Nevarez, L., Mamah, C., Zatz, M., Pierce, K. D., Fullerton, J. M., Adair, J. C., and 40 others. <strong>Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.</strong> Neurogenetics 14: 11-22, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23334463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23334463</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23334463[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1007/s10048-012-0349-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23334463">Hsu et al. (2013)</a> identified a heterozygous 2-bp deletion (c.583_584GT) in exon 5 of the SLC20A2 gene, resulting in a frameshift and premature termination (Val195LeufsTer61). The variant was not present in the dbSNP, NHLBI Exome Variant Server, or 1000 Genomes databases. Two clinically affected family members did not carry the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11344012+23334463+15596772" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000853094" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000853094" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000853094</a>
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<p>In affected members of an Italian family with idiopathic basal ganglia calcification-1 (IBGC1; <a href="/entry/213600">213600</a>), originally reported by <a href="#16" class="mim-tip-reference" title="Volpato, C. B., De Grandi, A., Buffone, E., Pichler, I., Gebert, U., Schifferle, G., Schonhuber, R., Pramstaller, P. P. <strong>Exclusion of linkage to chromosome 14q in a large South Tyrolean family with idiopathic basal ganglia calcification (IBGC).</strong> Am. J. Med. Genet. 147B: 1319-1322, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18361429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18361429</a>] [<a href="https://doi.org/10.1002/ajmg.b.30748" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18361429">Volpato et al. (2008)</a>, <a href="#6" class="mim-tip-reference" title="Grutz, K., Volpato, C. B., Domingo, A., Alvarez-Fischer, D., Gebert, U., Schifferle, G., Buffone, E., Wszolek, Z. K., Rademakers, R., Ferbert, A., Hicks, A. A., Klein, C., Pramstaller, P. P., Westenberger, A. <strong>Primary familial brain calcification in the 'IBGC2' kindred: all linkage roads lead to SLC20A2.</strong> Mov. Disord. 31: 1901-1904, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27671522/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27671522</a>] [<a href="https://doi.org/10.1002/mds.26768" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27671522">Grutz et al. (2016)</a> identified heterozygosity for a large deletion encompassing exons 6 to 10 in the SLC20A2 gene. The mutation, c.(613+1_614-1)_(1794+1_1795-1)del, was predicted to result in a frameshift (Val205GlyfsTer65). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18361429+27671522" 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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Brodaty, H., Mitchell, P., Luscombe, G., Kwok, J. B. J., Badenhop, R. F., McKenzie, R., Schofield, P. R.
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<strong>Familial idiopathic basal ganglia calcification (Fahr's disease) without neurological, cognitive and psychiatric symptoms is not linked to the IBGC1 locus on chromosome 14q.</strong>
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Hum. Genet. 110: 8-14, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11810290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11810290</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11810290" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Dai, X., Gao, Y., Xu, Z., Cui, X., Liu, J., Li, Y., Xu, H., Liu, M., Wang, Q. K., Liu, J. Y.
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<strong>Identification of a novel genetic locus on chromosome 8p21.1-q11.23 for idiopathic basal ganglia calcification.</strong>
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Am. J. Med. Genet. 153B: 1305-1310, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20552677/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20552677</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20552677" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.b.31102" target="_blank">Full Text</a>]
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Garcia, J. V., Jones, C., Miller, A. D.
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<strong>Localization of the amphotropic murine leukemia virus receptor gene to the pericentromeric region of human chromosome 8.</strong>
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J. Virol. 65: 6316-6319, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1656098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1656098</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1656098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1128/JVI.65.11.6316-6319.1991" target="_blank">Full Text</a>]
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Geschwind, D. H., Loginov, M., Stern, J. M.
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<strong>Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease).</strong>
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Am. J. Hum. Genet. 65: 764-772, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10441584/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10441584</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10441584" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Grutz, K., Volpato, C. B., Domingo, A., Alvarez-Fischer, D., Gebert, U., Schifferle, G., Buffone, E., Wszolek, Z. K., Rademakers, R., Ferbert, A., Hicks, A. A., Klein, C., Pramstaller, P. P., Westenberger, A.
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<strong>Primary familial brain calcification in the 'IBGC2' kindred: all linkage roads lead to SLC20A2.</strong>
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Mov. Disord. 31: 1901-1904, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27671522/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27671522</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27671522" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/mds.26768" target="_blank">Full Text</a>]
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Hsu, S. C., Sears, R. L., Lemos, R. R., Quintans, B., Huang, A., Spiteri, E., Nevarez, L., Mamah, C., Zatz, M., Pierce, K. D., Fullerton, J. M., Adair, J. C., and 40 others.
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<strong>Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.</strong>
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Neurogenetics 14: 11-22, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23334463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23334463</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23334463[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=23334463" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s10048-012-0349-2" target="_blank">Full Text</a>]
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Inden, M., Iriyama, M., Zennami, M., Sekine, S., Hara, A., Yamada, M., Hozumi, I.
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<strong>The type III transporters (PiT-1 and PiT-2) are the major sodium-dependent phosphate transporters in the mice and human brains.</strong>
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Brain Res. 1637: 128-136, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26923164/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26923164</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26923164" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.brainres.2016.02.032" target="_blank">Full Text</a>]
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</p>
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<a id="9" class="mim-anchor"></a>
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<a id="Kaelbling1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kaelbling, M., Eddy, R., Shows, T. B., Copeland, N. G., Gilbert, D. J., Jenkins, N. A., Klinger, H. P., O'Hara, B.
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<strong>Localization of the human gene allowing infection by Gibbon ape leukemia virus to human chromosome region 2q11-q14 and to the homologous region on mouse chromosome 2.</strong>
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J. Virol. 65: 1743-1747, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1672162/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1672162</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1672162" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1128/JVI.65.4.1743-1747.1991" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Kavanaugh1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kavanaugh, M. P., Miller, D. G., Zhang, W., Law, W., Kozak, S. L., Kabat, D., Miller, A. D.
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<strong>Cell-surface receptors for gibbon ape leukemia virus and amphotropic murine retrovirus are inducible sodium-dependent phosphate symporters.</strong>
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Proc. Nat. Acad. Sci. 91: 7071-7075, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8041748/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8041748</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8041748" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.91.15.7071" target="_blank">Full Text</a>]
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Manyam2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Manyam, B. V., Walters, A. S., Keller, I. A., Ghobrial, M.
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<strong>Parkinsonism associated with autosomal dominant bilateral striopallidodentate calcinosis.</strong>
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Parkinsonism Relat. Disord. 7: 289-295, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11344012/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11344012</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11344012" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s1353-8020(00)00036-5" target="_blank">Full Text</a>]
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<a id="12" class="mim-anchor"></a>
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<a id="Oliveira2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Oliveira, J. R. M., Spiteri, E., Sobrido, M. J., Hopfer, S., Klepper, J., Voit, T., Gilbert, J., Wszolek, Z. K., Calne, D. B., Stoessl, A. J., Hutton, M., Manyam, B. V., Boller, F., Baquero, M., Geschwind, D. H.
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<strong>Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease).</strong>
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Neurology 63: 2165-2167, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15596772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15596772</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15596772" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000145601.88274.88" target="_blank">Full Text</a>]
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="van Zeijl1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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van Zeijl, M., Johann, S. V., Closs, E., Cunningham, J., Eddy, R., Shows, T. B., O'Hara, B.
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<strong>A human amphotropic retrovirus receptor is a second member of the gibbon ape leukemia virus receptor family.</strong>
|
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Proc. Nat. Acad. Sci. 91: 1168-1172, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8302848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8302848</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8302848" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.91.3.1168" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="van Zeijl1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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van Zeijl, M., Johann, S. V., Eddy, R. L., Shows, T. B., O'Hara, B.
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<strong>Assignment of GLVR2, a receptor for murine amphotropic virus to human chromosome 8. (Abstract)</strong>
|
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Human Genome Mapping Workshop 93, Kobe, Japan 1993. P. 18.
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</p>
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Volpato2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Volpato, C. B., De Grandi, A., Buffone, E., Facheris, M., Gebert, U., Schifferle, G., Schonhuber, R., Hicks, A., Pramstaller, P. P.
|
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<strong>2q37 as a susceptibility locus for idiopathic basal ganglia calcification (IBGC) in a large South Tyrolean family.</strong>
|
|
J. Molec. Neurosci. 39: 346-353, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19757205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19757205</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19757205" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s12031-009-9287-3" target="_blank">Full Text</a>]
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Volpato2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Volpato, C. B., De Grandi, A., Buffone, E., Pichler, I., Gebert, U., Schifferle, G., Schonhuber, R., Pramstaller, P. P.
|
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<strong>Exclusion of linkage to chromosome 14q in a large South Tyrolean family with idiopathic basal ganglia calcification (IBGC).</strong>
|
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Am. J. Med. Genet. 147B: 1319-1322, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18361429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18361429</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18361429" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.b.30748" target="_blank">Full Text</a>]
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<li>
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<a id="17" class="mim-anchor"></a>
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<a id="Wang2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wang, C., Li, Y., Shi, L., Ren, J., Patti, M., Wang, T., de Oliveira, J. R. M., Sobrido, M.-J., Quintans, B., Baquero, M., Cui, X., Zhang, X.-Y., and 16 others.
|
|
<strong>Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.</strong>
|
|
Nature Genet. 44: 254-256, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22327515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22327515</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22327515" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng.1077" target="_blank">Full Text</a>]
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</p>
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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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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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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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Bao Lige - updated : 05/13/2022
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Carol A. Bocchini - updated : 10/14/2019<br>Matthew B. Gross - updated : 3/11/2016<br>Cassandra L. Kniffin - updated : 10/22/2013<br>Cassandra L. Kniffin - updated : 3/20/2012
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Victor A. McKusick : 12/4/1992
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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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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mgross : 05/13/2022
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</span>
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</div>
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</div>
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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 : 10/15/2019<br>carol : 10/14/2019<br>carol : 11/06/2017<br>carol : 08/19/2016<br>carol : 08/18/2016<br>carol : 03/15/2016<br>carol : 3/14/2016<br>mgross : 3/11/2016<br>mgross : 3/11/2016<br>carol : 10/24/2013<br>ckniffin : 10/22/2013<br>carol : 3/20/2012<br>ckniffin : 3/20/2012<br>alopez : 12/18/2009<br>alopez : 12/17/2009<br>alopez : 12/17/2009<br>cwells : 11/12/2003<br>carol : 8/20/1998<br>carol : 4/14/1994<br>carol : 12/9/1993<br>carol : 12/6/1993<br>carol : 12/4/1992
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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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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 158378
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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 20 (PHOSPHATE TRANSPORTER), MEMBER 2; SLC20A2
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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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<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">
|
|
PHOSPHATE TRANSPORTER, SODIUM-DEPENDENT, 2; PIT2<br />
|
|
GIBBON APE LEUKEMIA RETROVIRUS RECEPTOR 2; GLVR2<br />
|
|
MURINE LEUKEMIA VIRUS, AMPHOTROPIC, RECEPTOR FOR; MLVAR<br />
|
|
RECEPTOR FOR AMPHOTROPIC MURINE RETROVIRUS; RAM1
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: SLC20A2</em></strong>
|
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
|
Cytogenetic location: 8p11.21
|
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 8:42,416,475-42,541,954 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
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<th>
|
|
Phenotype
|
|
</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
8p11.21
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Basal ganglia calcification, idiopathic, 1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
213600
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
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</td>
|
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The SLC20A2 gene encodes an inorganic phosphate transporter that belongs to the type III sodium-dependent phosphate transporter family (see SLC20A1, 137570). These genes show broad expression in a variety of tissues and likely play a housekeeping role in cellular phosphate uptake (summary by Wang et al., 2012). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The host range of retroviruses is determined primarily by the presence of specific receptors on target cells that are recognized by retroviral envelope glycoproteins. Kaelbling et al. (1991) described a receptor for the gibbon ape leukemia retrovirus. In an effort to isolate related human genes, van Zeijl et al. (1993, 1994) screened a human cDNA library at low stringency using GLVR1 (137570) as a probe. A single GLVR1-related cDNA, designated GLVR2, was isolated. The deduced 652-amino acid GLVR2 protein contains 10 predicted transmembrane domains and shares 62% identity with GLVR1. </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>Using human-Chinese hamster somatic cell hybrids and a retroviral vector, Garcia et al. (1991) mapped the receptor for the amphotropic murine leukemia virus to the pericentromeric region of human chromosome 8. </p><p>Using a somatic cell hybrid panel, van Zeijl et al. (1994) mapped the GLVR2 gene to human chromosome 8, a location distinct from that for GLVR1, which maps to human chromosome 2. The location of GLVR2 on chromosome 8 highlighted the possibility that the locus may encode a receptor for the murine amphotropic virus because a receptor gene (MLVAR) for this virus was mapped to chromosome 8 by Garcia et al. (1991). </p><p>Gross (2016) mapped the SLC20A2 gene to chromosome 8p11.21 based on an alignment of the SLC20A2 sequence (GenBank BC028600) with the genomic sequence (GRCh38).</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>Van Zeijl et al. (1994) found that expression of human GLVR2 in CHO-K1 cells, which are resistant to infection by amphotropic virus because they lack a receptor, rendered the cells sensitive to infection by the virus. Thus, the authors concluded that GLVR2 is a receptor for amphotropic virus. Van Zeijl et al. (1994) pointed out that expression of the GLVR2 protein might be a requirement for infection of human cells by amphotropic retroviral vectors for purposes of gene therapy. </p><p>By expression in Xenopus oocytes and rat fibroblasts, Kavanaugh et al. (1994) identified rat Slc20a2, which they called Ram1, as a sodium-dependent phosphate symporter. Voltage-clamp analysis showed net cation influx, suggesting that phosphate is transported with excess sodium ions. </p><p>Using RT-PCR analysis, Inden et al. (2016) showed that SLC20A1 and SLC20A2 were widely expressed throughout mouse and human brain, with highest expression in cerebellum. In cerebellum, SLC20A1 and SLC20A2 colocalized in neurons, astrocytes, and vascular endothelial cells. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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 7 families with idiopathic basal ganglia calcification-1 (IBGC1; 213600), Wang et al. (2012) identified 7 different heterozygous mutations in the SLC20A2 gene (see, e.g., 158378.0001-158378.0005) that segregated with the disorder. Three families were of Chinese origin, 3 of Spanish origin, and 1 was Brazilian. In vitro functional expression studies in Xenopus oocytes showed that all the missense mutations resulted in substantially impaired transport of inorganic phosphate. However, expression of 2 mutant missense proteins with wildtype SLC20A2 did not result in diminished transport activity, suggesting haploinsufficiency as a pathogenic mechanism. Wang et al. (2012) postulated that functional loss of SLC20A2 in the brain may result in regional accumulation of inorganic phosphate in the extracellular matrix, causing calcium phosphate deposition. No genotype/phenotype correlations were observed. </p><p>In 13 (41%) of 29 families with IBGC, Hsu et al. (2013) identified 13 different heterozygous mutations in the SLC20A2 gene (see, e.g., 158378.0003 and 158378.0006-158378.0008). Variants predicted to be deleterious cosegregated with the disease in 5 families. No carriers of SLC20A2 variants were unaffected, suggesting 100% sensitivity of the clinical or CT evaluation. In contrast, several individuals in 3 large families who received an affected disease status based upon clinical examination or CT scan did not carry mutations. Hsu et al. (2013) noted that CT calcifications may be found in up to 1% of the general population, and that a wide range of neuropsychiatric manifestations can be considered part of the disorder. The findings established SLC20A2 as a key gene for familial IBGC. </p><p>In an Italian family with IBGC, originally reported by Volpato et al. (2008), Grutz et al. (2016) identified heterozygosity for a large deletion in the SLC20A2 gene (158378.0009). Volpato et al. (2008) had excluded linkage of the disorder in this family to chromosome 14 and Volpato et al. (2009) had erroneously mapped it to 2q37; the locus had previously been designated IBGC2. </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">
|
|
<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>9 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">
|
|
<strong>.0001 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1</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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SLC20A2, GLY498ARG
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<br />
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SNP: rs1586022262,
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|
|
ClinVar: RCV000022662, RCV004696639
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In affected members of the 5-generation Chinese family with idiopathic basal ganglia calcification-1 (IBGC1; 213600) originally reported by Dai et al. (2010), Wang et al. (2012) identified a heterozygous 1492G-A transition in the SLC20A2 gene, resulting in a gly498-to-arg (G498R) substitution in a highly conserved residue in transmembrane domain VIII. The mutation was not found in 508 Chinese controls, in the 1000 Genomes Project database, or in 2,439 control exomes. In vitro functional expression studies in Xenopus oocytes showed that the mutation resulted in substantially impaired transport of inorganic phosphate. In this family, 9 individuals had idiopathic basal ganglia calcification, but only 4 had clinical symptoms of headache, 1 also with depression; 5 were asymptomatic. Brain imaging of the 36-year-old proband showed symmetric calcium deposition in the caudate nucleus, lentiform nucleus, globus pallidus, inferior part of thalamus, and occipitalis lobes. All were adults, except for 1 asymptomatic 9-year-old boy, who had calcifications only in the globus pallidus. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1</strong>
|
|
</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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|
|
SLC20A2, SER601TRP
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|
<br />
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|
|
SNP: rs387906652,
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|
|
gnomAD: rs387906652,
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|
|
ClinVar: RCV000172920
|
|
|
|
|
|
</span>
|
|
</div>
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a 4-generation Chinese family with idiopathic basal ganglia calcification-1 (IBGC1; 213600), Wang et al. (2012) identified a heterozygous 1802C-G transversion in the SLC20A2 gene, resulting in a ser601-to-trp (S601W) substitution in a highly conserved residue in transmembrane domain XI. The mutation was not found in 508 Chinese controls, the 1000 Genomes Project, or 2,439 control exomes. In vitro functional expression studies in Xenopus oocytes showed that the mutation resulted in substantially impaired transport of inorganic phosphate. However, expression of the mutant protein with wildtype SLC20A2 did not result in diminished transport activity. Five patients were clinically asymptomatic and 1 had parkinsonism and cerebral infarction at age 73 years. Brain imaging showed calcium deposition primarily limited to the basal ganglia and inferior part of the thalamus. However, 2 affected sisters had a much more severe disorder, with early-onset epilepsy, developmental delay, and mental retardation. Brain imaging of these 2 girls showed marked symmetric calcium deposition in the basal ganglia, inferior part of the thalamus, cerebellum, frontal, temporal, and occipital cortices, and subcortex. These 2 girls were found to carry a heterozygous S601W mutation inherited from their affected father, as well as a ser121-to-cys (S121C) substitution in the SLC20A2 gene inherited from their unaffected mother. The S121C substitution was not found in 508 Chinese controls, but did not show a significant impairment of SLC20A2 transport activity. Thus, its contribution to the severe phenotype lacked clearly supportive evidence. </p>
|
|
</span>
|
|
</div>
|
|
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|
<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
<div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC20A2, SER601LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387906652,
|
|
|
|
|
|
gnomAD: rs387906652,
|
|
|
|
|
|
ClinVar: RCV000172921
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 affected members of a Chinese family with idiopathic basal ganglia calcification-1 (IBGC1; 213600), Wang et al. (2012) identified a heterozygous 1802C-T transition in the SLC20A2 gene, resulting in a ser601-to-leu (S601L) substitution in a highly conserved residue in transmembrane domain XI. The mutation was not found in 508 Chinese controls, the 1000 Genomes Project, or in 2,439 control exomes. In vitro functional expression studies in Xenopus oocytes showed that the mutation resulted in substantially impaired transport of inorganic phosphate. </p><p>Hsu et al. (2013) identified a heterozygous S601L substitution in the SLC20A2 gene in a patient (family F23) with IBGC1 who was of Ashkenazi Jewish and Russian descent. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
<div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC20A2, GLU575LYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387906653,
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|
|
|
|
|
|
|
ClinVar: RCV000022665
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 affected members of a Spanish family with idiopathic basal ganglia calcification-1 (IBCG1; 213600), Wang et al. (2012) identified a heterozygous 1723G-A transition in the SLC20A2 gene, resulting in a glu575-to-lys (E575K) substitution in a highly conserved residue in transmembrane domain X. The mutation was not found in 288 Spanish controls, the 1000 Genomes Project, or in 2,439 control exomes. In vitro functional expression studies in Xenopus oocytes showed that the mutation resulted in substantially impaired transport of inorganic phosphate. However, expression of the mutant protein with wildtype SLC20A2 did not result in diminished transport activity. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
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|
<div>
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
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|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC20A2, THR595MET
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387906654,
|
|
|
|
|
|
gnomAD: rs387906654,
|
|
|
|
|
|
ClinVar: RCV000022666, RCV002513170
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Spanish patient with idiopathic basal ganglia calcification-1 (IBGC1; 213600), Wang et al. (2012) identified a heterozygous 1784C-T transition in the SLC20A2 gene, resulting in a thr595-to-met (T595M) substitution in a highly conserved residue in transmembrane domain XI. The mutation was not found in 288 Spanish controls, the 1000 Genomes Project, or 2,439 control exomes. In vitro functional expression studies in Xenopus oocytes showed that the mutation resulted in substantially impaired transport of inorganic phosphate. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
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|
<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC20A2, 1-BP DEL, 508T
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs398122395,
|
|
|
|
|
|
gnomAD: rs398122395,
|
|
|
|
|
|
ClinVar: RCV000066204, RCV000303018, RCV003409398
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 9 affected members of a large multigenerational family (F1) with idiopathic basal ganglia calcification-1 (IBGC1; 213600), originally reported by Geschwind et al. (1999), Hsu et al. (2013) identified a heterozygous 1-bp deletion (c.508delC) in exon 4 of the SLC20A2 gene, resulting in a frameshift and premature termination (Leu170Ter). The family was previously reported to show linkage to a locus on chromosome 14q13, but Hsu et al. (2013) demonstrated that the mutation responsible for the phenotype was in the SLC20A2 gene on chromosome 8p. Two individuals who were clinically affected and were part of the original linkage study were found not to carry the mutation, which may have contributed to the previous erroneous linkage results. The variant was not present in the dbSNP, NHLBI Exome Variant Server, or 1000 Genomes Project databases. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
|
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|
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</div>
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<div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
|
|
|
|
SLC20A2, 4-BP DEL, 1828TCCC
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs398122396,
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|
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|
|
|
|
|
ClinVar: RCV000066206, RCV004730869
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 9 affected members of a family (F2) with idiopathic basal ganglia calcification-1 (IBGC1; 213600), originally reported by Brodaty et al. (2002), Hsu et al. (2013) identified a heterozygous 4-bp deletion (c.1828_1831delTCCC) in exon 11 of the SLC20A2 gene, resulting in a frameshift and premature termination (Ser610AlafsTer17). The variant was not present in the dbSNP, NHLBI Exome Variant Server, or 1000 Genomes Project databases. One clinically affected family member did not carry the mutation. </p>
|
|
</span>
|
|
</div>
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<div>
|
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<br />
|
|
</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
|
|
|
|
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<div>
|
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<span class="mim-text-font">
|
|
|
|
SLC20A2, 2-BP DEL, 583GT
|
|
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|
|
|
<br />
|
|
|
|
SNP: rs398122397,
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|
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|
|
|
|
|
ClinVar: RCV000066208, RCV000793976
|
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|
|
|
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</span>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 8 affected members of a family (F5) of Irish-English descent with idiopathic basal ganglia calcification-1 (IBGC1; 213600), previously reported by Manyam et al. (2001) and Oliveira et al. (2004), Hsu et al. (2013) identified a heterozygous 2-bp deletion (c.583_584GT) in exon 5 of the SLC20A2 gene, resulting in a frameshift and premature termination (Val195LeufsTer61). The variant was not present in the dbSNP, NHLBI Exome Variant Server, or 1000 Genomes databases. Two clinically affected family members did not carry the mutation. </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>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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SLC20A2, EX6-10DEL
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<br />
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ClinVar: RCV000853094
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<p>In affected members of an Italian family with idiopathic basal ganglia calcification-1 (IBGC1; 213600), originally reported by Volpato et al. (2008), Grutz et al. (2016) identified heterozygosity for a large deletion encompassing exons 6 to 10 in the SLC20A2 gene. The mutation, c.(613+1_614-1)_(1794+1_1795-1)del, was predicted to result in a frameshift (Val205GlyfsTer65). </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</h4>
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Brodaty, H., Mitchell, P., Luscombe, G., Kwok, J. B. J., Badenhop, R. F., McKenzie, R., Schofield, P. R.
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<strong>Familial idiopathic basal ganglia calcification (Fahr's disease) without neurological, cognitive and psychiatric symptoms is not linked to the IBGC1 locus on chromosome 14q.</strong>
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Hum. Genet. 110: 8-14, 2002.
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[PubMed: 11810290]
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[Full Text: https://doi.org/10.1007/s00439-001-0650-x]
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Dai, X., Gao, Y., Xu, Z., Cui, X., Liu, J., Li, Y., Xu, H., Liu, M., Wang, Q. K., Liu, J. Y.
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<strong>Identification of a novel genetic locus on chromosome 8p21.1-q11.23 for idiopathic basal ganglia calcification.</strong>
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Am. J. Med. Genet. 153B: 1305-1310, 2010.
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[PubMed: 20552677]
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[Full Text: https://doi.org/10.1002/ajmg.b.31102]
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<p class="mim-text-font">
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Garcia, J. V., Jones, C., Miller, A. D.
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<strong>Localization of the amphotropic murine leukemia virus receptor gene to the pericentromeric region of human chromosome 8.</strong>
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J. Virol. 65: 6316-6319, 1991.
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[PubMed: 1656098]
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[Full Text: https://doi.org/10.1128/JVI.65.11.6316-6319.1991]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Geschwind, D. H., Loginov, M., Stern, J. M.
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<strong>Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease).</strong>
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Am. J. Hum. Genet. 65: 764-772, 1999.
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[PubMed: 10441584]
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[Full Text: https://doi.org/10.1086/302558]
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</p>
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<li>
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<p class="mim-text-font">
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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 3/11/2016.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Grutz, K., Volpato, C. B., Domingo, A., Alvarez-Fischer, D., Gebert, U., Schifferle, G., Buffone, E., Wszolek, Z. K., Rademakers, R., Ferbert, A., Hicks, A. A., Klein, C., Pramstaller, P. P., Westenberger, A.
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<strong>Primary familial brain calcification in the 'IBGC2' kindred: all linkage roads lead to SLC20A2.</strong>
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Mov. Disord. 31: 1901-1904, 2016.
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[PubMed: 27671522]
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[Full Text: https://doi.org/10.1002/mds.26768]
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<p class="mim-text-font">
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Hsu, S. C., Sears, R. L., Lemos, R. R., Quintans, B., Huang, A., Spiteri, E., Nevarez, L., Mamah, C., Zatz, M., Pierce, K. D., Fullerton, J. M., Adair, J. C., and 40 others.
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<strong>Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.</strong>
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Neurogenetics 14: 11-22, 2013.
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[PubMed: 23334463]
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[Full Text: https://doi.org/10.1007/s10048-012-0349-2]
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Inden, M., Iriyama, M., Zennami, M., Sekine, S., Hara, A., Yamada, M., Hozumi, I.
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<strong>The type III transporters (PiT-1 and PiT-2) are the major sodium-dependent phosphate transporters in the mice and human brains.</strong>
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Brain Res. 1637: 128-136, 2016.
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[PubMed: 26923164]
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[Full Text: https://doi.org/10.1016/j.brainres.2016.02.032]
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<p class="mim-text-font">
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Kaelbling, M., Eddy, R., Shows, T. B., Copeland, N. G., Gilbert, D. J., Jenkins, N. A., Klinger, H. P., O'Hara, B.
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<strong>Localization of the human gene allowing infection by Gibbon ape leukemia virus to human chromosome region 2q11-q14 and to the homologous region on mouse chromosome 2.</strong>
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J. Virol. 65: 1743-1747, 1991.
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[PubMed: 1672162]
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[Full Text: https://doi.org/10.1128/JVI.65.4.1743-1747.1991]
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</p>
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<p class="mim-text-font">
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Kavanaugh, M. P., Miller, D. G., Zhang, W., Law, W., Kozak, S. L., Kabat, D., Miller, A. D.
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<strong>Cell-surface receptors for gibbon ape leukemia virus and amphotropic murine retrovirus are inducible sodium-dependent phosphate symporters.</strong>
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Proc. Nat. Acad. Sci. 91: 7071-7075, 1994.
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[PubMed: 8041748]
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[Full Text: https://doi.org/10.1073/pnas.91.15.7071]
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</p>
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<p class="mim-text-font">
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Manyam, B. V., Walters, A. S., Keller, I. A., Ghobrial, M.
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<strong>Parkinsonism associated with autosomal dominant bilateral striopallidodentate calcinosis.</strong>
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Parkinsonism Relat. Disord. 7: 289-295, 2001.
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[PubMed: 11344012]
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[Full Text: https://doi.org/10.1016/s1353-8020(00)00036-5]
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</p>
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<p class="mim-text-font">
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Oliveira, J. R. M., Spiteri, E., Sobrido, M. J., Hopfer, S., Klepper, J., Voit, T., Gilbert, J., Wszolek, Z. K., Calne, D. B., Stoessl, A. J., Hutton, M., Manyam, B. V., Boller, F., Baquero, M., Geschwind, D. H.
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<strong>Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease).</strong>
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Neurology 63: 2165-2167, 2004.
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[PubMed: 15596772]
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<p class="mim-text-font">
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van Zeijl, M., Johann, S. V., Closs, E., Cunningham, J., Eddy, R., Shows, T. B., O'Hara, B.
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<strong>A human amphotropic retrovirus receptor is a second member of the gibbon ape leukemia virus receptor family.</strong>
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Proc. Nat. Acad. Sci. 91: 1168-1172, 1994.
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[PubMed: 8302848]
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[Full Text: https://doi.org/10.1073/pnas.91.3.1168]
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<p class="mim-text-font">
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van Zeijl, M., Johann, S. V., Eddy, R. L., Shows, T. B., O'Hara, B.
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<strong>Assignment of GLVR2, a receptor for murine amphotropic virus to human chromosome 8. (Abstract)</strong>
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Human Genome Mapping Workshop 93, Kobe, Japan 1993. P. 18.
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<p class="mim-text-font">
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Volpato, C. B., De Grandi, A., Buffone, E., Facheris, M., Gebert, U., Schifferle, G., Schonhuber, R., Hicks, A., Pramstaller, P. P.
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<strong>2q37 as a susceptibility locus for idiopathic basal ganglia calcification (IBGC) in a large South Tyrolean family.</strong>
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J. Molec. Neurosci. 39: 346-353, 2009.
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[PubMed: 19757205]
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[Full Text: https://doi.org/10.1007/s12031-009-9287-3]
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</p>
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<p class="mim-text-font">
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Volpato, C. B., De Grandi, A., Buffone, E., Pichler, I., Gebert, U., Schifferle, G., Schonhuber, R., Pramstaller, P. P.
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<strong>Exclusion of linkage to chromosome 14q in a large South Tyrolean family with idiopathic basal ganglia calcification (IBGC).</strong>
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Am. J. Med. Genet. 147B: 1319-1322, 2008.
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[PubMed: 18361429]
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[Full Text: https://doi.org/10.1002/ajmg.b.30748]
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<p class="mim-text-font">
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Wang, C., Li, Y., Shi, L., Ren, J., Patti, M., Wang, T., de Oliveira, J. R. M., Sobrido, M.-J., Quintans, B., Baquero, M., Cui, X., Zhang, X.-Y., and 16 others.
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<strong>Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.</strong>
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Nature Genet. 44: 254-256, 2012.
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[PubMed: 22327515]
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[Full Text: https://doi.org/10.1038/ng.1077]
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Bao Lige - updated : 05/13/2022<br>Carol A. Bocchini - updated : 10/14/2019<br>Matthew B. Gross - updated : 3/11/2016<br>Cassandra L. Kniffin - updated : 10/22/2013<br>Cassandra L. Kniffin - updated : 3/20/2012
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mgross : 05/13/2022<br>carol : 10/15/2019<br>carol : 10/14/2019<br>carol : 11/06/2017<br>carol : 08/19/2016<br>carol : 08/18/2016<br>carol : 03/15/2016<br>carol : 3/14/2016<br>mgross : 3/11/2016<br>mgross : 3/11/2016<br>carol : 10/24/2013<br>ckniffin : 10/22/2013<br>carol : 3/20/2012<br>ckniffin : 3/20/2012<br>alopez : 12/18/2009<br>alopez : 12/17/2009<br>alopez : 12/17/2009<br>cwells : 11/12/2003<br>carol : 8/20/1998<br>carol : 4/14/1994<br>carol : 12/9/1993<br>carol : 12/6/1993<br>carol : 12/4/1992
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