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<title>
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Entry
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- *611801 - POST-GPI ATTACHMENT TO PROTEINS 3; PGAP3
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- OMIM
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Advanced Search
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<a href="/search/advanced/entry"> OMIM </a>
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<p>
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<span class="h4">*611801</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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</li>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/611801">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000161395;t=ENST00000300658" 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=93210" 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=611801" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000161395;t=ENST00000300658" 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_001291726,NM_001291728,NM_001291730,NM_001291732,NM_001291733,NM_033419,XM_011525480,XM_047437082,XM_047437083" 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_033419" 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=611801" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
|
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=15118&isoform_id=15118_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/PGAP3" 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/10441891,22761646,27808402,32949296,37181999,45505180,74731724,119580993,119580994,119580995,119580996,119580997,119580998,158260247,194375185,194378136,619328895,619328939,619328947,619328971,619726944,767996502,2217314804,2217314806,2462558803,2462558805,2462558807" 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/Q96FM1" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=93210" 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=ENSG00000161395;t=ENST00000300658" 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=PGAP3" 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=PGAP3" 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+93210" 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/PGAP3" 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:93210" 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/93210" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr17&hgg_gene=ENST00000300658.9&hgg_start=39671122&hgg_end=39688057&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
|
|
<span class="panel-title">
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<span class="small">
|
|
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
|
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</a>
|
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</span>
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</span>
|
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</div>
|
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:23719" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:23719" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=611801[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=611801[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/PGAP3/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000161395" 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=PGAP3" 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=PGAP3" 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=PGAP3" 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=PGAP3&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/PA165432310" 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:23719" 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/FBgn0033088.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:2444461" 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/PGAP3#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:2444461" 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/93210/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=93210" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00019806;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-080204-27" 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">
|
|
<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
|
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</div>
|
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</a>
|
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:93210" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=PGAP3&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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611801
|
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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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POST-GPI ATTACHMENT TO PROTEINS 3; PGAP3
|
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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">
|
|
<em>Alternative titles; symbols</em>
|
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</span>
|
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</p>
|
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</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
PER1-LIKE DOMAIN-CONTAINING PROTEIN 1; PERLD1<br />
|
|
GENE COAMPLIFIED WITH ERBB2; CAB2<br />
|
|
MGC9753
|
|
</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>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=PGAP3" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PGAP3</a></em></strong>
|
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/17/490?start=-3&limit=10&highlight=490">17q12</a>
|
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr17:39671122-39688057&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">17:39,671,122-39,688,057</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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|
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<br />
|
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</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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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>
|
|
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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Hyperphosphatasia with impaired intellectual development syndrome 4
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PheneGene Graphics <span class="caret"></span>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p>The PGAP3 gene encodes a glycophosphatidylinositol (GPI)-specific phospholipase A2 that is expressed in the Golgi. The enzyme is involved in fatty acid GPI remodeling that is critical for proper association between GPI-anchored proteins and lipid rafts (summary by <a href="#4" class="mim-tip-reference" title="Howard, M. F., Murakami, Y., Pagnamenta, A. T., Daumer-Haas, C., Fischer, B., Hecht, J., Keays, D. A., Knight, S. J. L., Kolsch, U., Kruger, U., Leiz, S., Maeda, Y., and 9 others. <strong>Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.</strong> Am. J. Hum. Genet. 94: 278-287, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24439110/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24439110</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24439110[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.12.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24439110">Howard et al., 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24439110" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#7" class="mim-tip-reference" title="Nezu, M., Nishigaki, M., Ishizuka, T., Kuwahara, Y., Tanabe, C., Aoyagi, K., Sakamoto, H., Saito, Y., Yoshida, T., Sasaki, H., Terada, M. <strong>Identification of the CAB2/hCOS16 gene required for the repair of DNA double-strand breaks on a core amplified region of the 17q12 locus in breast and gastric cancers.</strong> Jpn. J. Cancer Res. 93: 1183-1186, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12460457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12460457</a>] [<a href="https://doi.org/10.1111/j.1349-7006.2002.tb01221.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12460457">Nezu et al. (2002)</a> identified the PERLD1 gene, which they called CAB2, in a region of chromosome 17 amplified in breast and gastric cancers, and they obtained a full-length CAB2 cDNA by screening a breast cancer cell line cDNA library. The deduced 319-amino acid protein contains several transmembrane domains. CAB2 was ubiquitously expressed, with highest levels in adult thyroid and placenta and in all 4 fetal tissues examined. Fluorescence-tagged CAB2 accumulated in cytoplasmic vesicles in a transfected human breast cancer cell line. By database analysis, <a href="#7" class="mim-tip-reference" title="Nezu, M., Nishigaki, M., Ishizuka, T., Kuwahara, Y., Tanabe, C., Aoyagi, K., Sakamoto, H., Saito, Y., Yoshida, T., Sasaki, H., Terada, M. <strong>Identification of the CAB2/hCOS16 gene required for the repair of DNA double-strand breaks on a core amplified region of the 17q12 locus in breast and gastric cancers.</strong> Jpn. J. Cancer Res. 93: 1183-1186, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12460457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12460457</a>] [<a href="https://doi.org/10.1111/j.1349-7006.2002.tb01221.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12460457">Nezu et al. (2002)</a> identified CAB2 homologs in yeast, worm, fly, and plant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12460457" 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 database analysis, <a href="#5" class="mim-tip-reference" title="Katoh, M., Katoh, M. <strong>MGC9753 gene, located within PPP1R1B-STARD3-ERBB2-GRB7 amplicon on human chromosome 17q12, encodes the seven-transmembrane receptor with extracellular six-cystein (sic) domain.</strong> Int. J. Oncol. 22: 1369-1374, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12739007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12739007</a>]" pmid="12739007">Katoh and Katoh (2003)</a> identified mouse and human PERLD1, which they designated MGC9753. Human MGC9753 contains 2 ORFs, but only the first is conserved in mouse. The human and mouse MGC9753 proteins contain 320 amino acids and share 85% amino acid identity. Both have an N-terminal signal peptide, followed by an extracellular 6-cysteine domain, 7 transmembrane domains, and an N-glycosylation site at asn40. Human MGC9753 shares 90.6% identity with the CAB2 protein reported by <a href="#7" class="mim-tip-reference" title="Nezu, M., Nishigaki, M., Ishizuka, T., Kuwahara, Y., Tanabe, C., Aoyagi, K., Sakamoto, H., Saito, Y., Yoshida, T., Sasaki, H., Terada, M. <strong>Identification of the CAB2/hCOS16 gene required for the repair of DNA double-strand breaks on a core amplified region of the 17q12 locus in breast and gastric cancers.</strong> Jpn. J. Cancer Res. 93: 1183-1186, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12460457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12460457</a>] [<a href="https://doi.org/10.1111/j.1349-7006.2002.tb01221.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12460457">Nezu et al. (2002)</a>, which diverges in the central region and lacks transmembrane domain-3 due to a frameshift. <a href="#5" class="mim-tip-reference" title="Katoh, M., Katoh, M. <strong>MGC9753 gene, located within PPP1R1B-STARD3-ERBB2-GRB7 amplicon on human chromosome 17q12, encodes the seven-transmembrane receptor with extracellular six-cystein (sic) domain.</strong> Int. J. Oncol. 22: 1369-1374, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12739007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12739007</a>]" pmid="12739007">Katoh and Katoh (2003)</a> concluded that CAB2 is an aberrant protein that may accumulate in vesicles due to sorting error. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12739007+12460457" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Katoh, M., Katoh, M. <strong>MGC9753 gene, located within PPP1R1B-STARD3-ERBB2-GRB7 amplicon on human chromosome 17q12, encodes the seven-transmembrane receptor with extracellular six-cystein (sic) domain.</strong> Int. J. Oncol. 22: 1369-1374, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12739007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12739007</a>]" pmid="12739007">Katoh and Katoh (2003)</a> determined that the PERLD1 gene contains 8 exons and spans about 17 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12739007" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By genomic sequence analysis, <a href="#7" class="mim-tip-reference" title="Nezu, M., Nishigaki, M., Ishizuka, T., Kuwahara, Y., Tanabe, C., Aoyagi, K., Sakamoto, H., Saito, Y., Yoshida, T., Sasaki, H., Terada, M. <strong>Identification of the CAB2/hCOS16 gene required for the repair of DNA double-strand breaks on a core amplified region of the 17q12 locus in breast and gastric cancers.</strong> Jpn. J. Cancer Res. 93: 1183-1186, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12460457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12460457</a>] [<a href="https://doi.org/10.1111/j.1349-7006.2002.tb01221.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12460457">Nezu et al. (2002)</a> mapped the PERLD1 gene to a region of chromosome 17q12 that is amplified in breast and gastric cancers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12460457" 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 5 patients from 3 families with hyperphosphatasia with impaired intellectual development syndrome-4 (HPMRS4; <a href="/entry/615716">615716</a>), <a href="#4" class="mim-tip-reference" title="Howard, M. F., Murakami, Y., Pagnamenta, A. T., Daumer-Haas, C., Fischer, B., Hecht, J., Keays, D. A., Knight, S. J. L., Kolsch, U., Kruger, U., Leiz, S., Maeda, Y., and 9 others. <strong>Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.</strong> Am. J. Hum. Genet. 94: 278-287, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24439110/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24439110</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24439110[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.12.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24439110">Howard et al. (2014)</a> identified homozygous or compound heterozygous mutations in the PGAP3 gene (<a href="#0001">611801.0001</a>-<a href="#0004">611801.0004</a>). The mutation in the first family was found by exome sequencing. Transfection of wildtype PGAP3 into CHO cells that lack both PGAP3 and PGAP2 (<a href="/entry/615187">615187</a>) restored the first step in fatty acid remodeling, but the second step remained defective, leading to a reduction in surface levels of GPI-anchored proteins. In vitro functional expression studies in CHO cells showed that the mutant PGAP3 proteins had either no or only residual enzymatic activity. The phenotype was characterized by severely delayed psychomotor development, impaired intellectual development, lack of speech acquisition, seizures, and dysmorphic facial features. Laboratory studies showed increased serum alkaline phosphatase. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24439110" 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 9 patients from 5 Saudi families with HPMRS4, <a href="#6" class="mim-tip-reference" title="Maddirevula, S., Alsahli, S., Alhabeeb, L., Patel, N., Alzahrani, F., Shamseldin, H. E., Anazi, S., Ewida, N., Alsaif, H. S., Mohamed, J. Y., Alazami, A. M., Ibrahim, N., and 44 others. <strong>Expanding the phenome and variome of skeletal dysplasia.</strong> Genet. Med. 20: 1609-1616, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29620724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29620724</a>] [<a href="https://doi.org/10.1038/gim.2018.50" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29620724">Maddirevula et al. (2018)</a> identified a his284-to-tyr mutation (H284Y; <a href="#0005">611801.0005</a>) in the PGAP3 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29620724" 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 14 patients from 8 Arab families with HPMRS4, <a href="#2" class="mim-tip-reference" title="Balobaid, A., Ben-Omran, T., Ramzan, K., Altassan, R., Almureikhi, M., Musa, S., Al-Hashmi, N., Al-Owain, M., Al-Zaidan H., Al-Hassnan, Z., Imtiaz, F., Al-Sayed, M. <strong>Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin.</strong> Am. J. Med. Genet. 176A: 2850-2857, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30345601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30345601</a>] [<a href="https://doi.org/10.1002/ajmg.a.40627" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30345601">Balobaid et al. (2018)</a> identified homozygosity for 3 missense mutations in the PGAP3 gene: H284Y, H284R (<a href="#0006">611801.0006</a>), and S107L. Seven of the families were consanguineous. The mutations, which were found by homozygosity mapping and whole-exome sequencing, segregated with the disorder in all families for which DNA was available from the parents. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30345601" 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 2 sibs from Turkey, born to consanguineous parents, with HPMRS4, <a href="#1" class="mim-tip-reference" title="Akgun Dogan, O., Demir, G. U., Kosukcu, C., Takiran, E. Z., Simsek-Kiper, P. O., Utine, G. E., Alikasifoglu, M., Boduroglu, K. <strong>Hyperphosphatasia with mental retardation syndrome type 4 in two siblings--expanding the phenotypic and mutational spectrum.</strong> Europ. J. Med. Genet. 62: 103535, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30217754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30217754</a>] [<a href="https://doi.org/10.1016/j.ejmg.2018.09.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30217754">Akgun Dogan et al. (2019)</a> identified homozygosity for a nonsense mutation in the PGAP3 gene (Y169X; <a href="#0007">611801.0007</a>). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30217754" 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>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>7 Selected Examples</a>):</strong>
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<a href="/allelicVariants/611801" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=611801[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 HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4</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">rs587777251 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777251;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=rs587777251" 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=rs587777251" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 3 sibs, born of consanguineous Pakistani parents with hyperphosphatasia with impaired intellectual development syndrome-4 (HPMRS4; <a href="/entry/615716">615716</a>), <a href="#4" class="mim-tip-reference" title="Howard, M. F., Murakami, Y., Pagnamenta, A. T., Daumer-Haas, C., Fischer, B., Hecht, J., Keays, D. A., Knight, S. J. L., Kolsch, U., Kruger, U., Leiz, S., Maeda, Y., and 9 others. <strong>Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.</strong> Am. J. Hum. Genet. 94: 278-287, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24439110/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24439110</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24439110[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.12.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24439110">Howard et al. (2014)</a> identified a homozygous c.275G-A transition in the PGAP3 gene, resulting in a gly92-to-asp (G92D) substitution at a highly conserved residue in a juxtamembrane position on the luminal side. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not present in the Exome Variant Server, dbSNP (build 137), or 1000 Genomes Project databases, or in 108 ethnically matched controls. In vitro functional expression studies in CHO cells showed that the mutant G92D protein had almost no or absent enzyme activity. Electrophoresis and immunoblotting studies showed that the G92D protein was full-sized, had normally matured N-glycan, and localized to the Golgi, similar to wildtype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24439110" 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> rs869312815 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs869312815;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/rs869312815?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=rs869312815" 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=rs869312815" 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=RCV000210253" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000210253" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000210253</a>
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<p>In a 10-year-old Caucasian American girl with hyperphosphatasia with impaired intellectual development syndrome-4 (HPMRS4; <a href="/entry/615716">615716</a>), originally reported (patient 4) by <a href="#8" class="mim-tip-reference" title="Thompson, M. D., Roscioli, T., Marcelis, C., Nezarati, M. M., Stolte-Dijkstra, I., Sharom, F. J., Lu, P., Phillips, J. A., Sweeney, E., Robinson, P. N., Krawitz, P., Yntema, H. G., Andrade, D. M., Brunner, H. G., Cole, D. E. C. <strong>Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome).</strong> Am. J. Med. Genet. 158A: 553-558, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22315194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22315194</a>] [<a href="https://doi.org/10.1002/ajmg.a.35202" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22315194">Thompson et al. (2012)</a>, <a href="#4" class="mim-tip-reference" title="Howard, M. F., Murakami, Y., Pagnamenta, A. T., Daumer-Haas, C., Fischer, B., Hecht, J., Keays, D. A., Knight, S. J. L., Kolsch, U., Kruger, U., Leiz, S., Maeda, Y., and 9 others. <strong>Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.</strong> Am. J. Hum. Genet. 94: 278-287, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24439110/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24439110</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24439110[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.12.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24439110">Howard et al. (2014)</a> identified compound heterozygous mutations in the PGAP3 gene: a 1-bp duplication (c.439dupC), predicted to result in a frameshift and premature termination (Leu147ProfsTer16), and a c.914A-G transition, resulting in an asp305-to-gly (D305G; <a href="#0003">611801.0003</a>) substitution at a highly conserved residue in the cytoplasmic tail. The unaffected parents were heterozygous for one of the mutations. In vitro functional expression studies in CHO cells showed that the mutant D305G protein had some residual enzyme activity, whereas the c.439dupC mutant had no residual enzyme activity, and was likely degraded by nonsense-mediated mRNA decay. Electrophoresis and immunoblotting studies showed that the D305G protein had only immature ER-form N-glycan and did not localize properly to the Golgi, but was retained in the ER. Flow cytometric analysis of patient cells showed a reduction in the cell surface levels of GPI-anchored proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22315194+24439110" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs587777252 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777252;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/rs587777252?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=rs587777252" 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=rs587777252" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the asp305-to-gly (D305G) mutation in the PGAP3 gene that was found in compound heterozygous state in a patient with hyperphosphatasia with impaired intellectual development syndrome-4 (HPMRS4; <a href="/entry/615716">615716</a>) by <a href="#4" class="mim-tip-reference" title="Howard, M. F., Murakami, Y., Pagnamenta, A. T., Daumer-Haas, C., Fischer, B., Hecht, J., Keays, D. A., Knight, S. J. L., Kolsch, U., Kruger, U., Leiz, S., Maeda, Y., and 9 others. <strong>Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.</strong> Am. J. Hum. Genet. 94: 278-287, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24439110/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24439110</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24439110[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.12.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24439110">Howard et al. (2014)</a>, see <a href="#0002">611801.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24439110" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs371549948 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs371549948;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/rs371549948?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=rs371549948" 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=rs371549948" 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=RCV000111465" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000111465" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000111465</a>
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<p>In a 2-year-old girl, born of consanguineous Saudi Arabian parents, with hyperphosphatasia with impaired intellectual development syndrome-4 (HPMRS4; <a href="/entry/615716">615716</a>), <a href="#4" class="mim-tip-reference" title="Howard, M. F., Murakami, Y., Pagnamenta, A. T., Daumer-Haas, C., Fischer, B., Hecht, J., Keays, D. A., Knight, S. J. L., Kolsch, U., Kruger, U., Leiz, S., Maeda, Y., and 9 others. <strong>Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.</strong> Am. J. Hum. Genet. 94: 278-287, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24439110/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24439110</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24439110[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.12.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24439110">Howard et al. (2014)</a> identified a homozygous c.314C-G transversion in the PGAP3 gene, resulting in a pro105-to-arg (P105R) substitution at a highly conserved residue in the first transmembrane domain. The unaffected parents were heterozygous for the mutation, which was not found in 52 Arab controls or in the Exome Variant Server database. In vitro functional expression studies in CHO cells showed that the mutant P105R protein had low residual enzyme activity. Electrophoresis and immunoblotting studies showed that the P105R protein had only immature ER-form N-glycan and did not localize properly to the Golgi, but was retained in the ER. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24439110" 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> rs759541820 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs759541820;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/rs759541820?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=rs759541820" 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=rs759541820" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 9 patients from 5 Saudi families with hyperphosphatasia with impaired intellectual development syndrome-4 (HPMRS4; <a href="/entry/615716">615716</a>), <a href="#6" class="mim-tip-reference" title="Maddirevula, S., Alsahli, S., Alhabeeb, L., Patel, N., Alzahrani, F., Shamseldin, H. E., Anazi, S., Ewida, N., Alsaif, H. S., Mohamed, J. Y., Alazami, A. M., Ibrahim, N., and 44 others. <strong>Expanding the phenome and variome of skeletal dysplasia.</strong> Genet. Med. 20: 1609-1616, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29620724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29620724</a>] [<a href="https://doi.org/10.1038/gim.2018.50" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29620724">Maddirevula et al. (2018)</a> identified homozygosity for a founder c.850C-T transition (c.850C-T, NM_033419.3) in the PGAP3 gene that resulted in a histidine-to-tyrosine substitution at codon 284 (H284Y). This variant was absent from the gnomAD database on April 14, 2020 (<a href="#3" class="mim-tip-reference" title="Hamosh, A. <strong>Personal Communication.</strong> Baltimore, Md. 04/14/2020."None>Hamosh, 2020</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29620724" 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 4 patients from 2 consanguineous Saudi families with HPMRS4, <a href="#2" class="mim-tip-reference" title="Balobaid, A., Ben-Omran, T., Ramzan, K., Altassan, R., Almureikhi, M., Musa, S., Al-Hashmi, N., Al-Owain, M., Al-Zaidan H., Al-Hassnan, Z., Imtiaz, F., Al-Sayed, M. <strong>Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin.</strong> Am. J. Med. Genet. 176A: 2850-2857, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30345601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30345601</a>] [<a href="https://doi.org/10.1002/ajmg.a.40627" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30345601">Balobaid et al. (2018)</a> identified homozygosity for the H284Y mutation in the PGAP3 gene. The authors proposed that this mutation might represent a founder mutation warranting targeted genetic testing once clinical suspicion of HPMRS4 is raised. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30345601" 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 8 patients from 5 unrelated families (3 from Qatar and 2 from Oman) with hyperphosphatasia with impaired intellectual development syndrome-4 (HPMRS4; <a href="/entry/615716">615716</a>) <a href="#2" class="mim-tip-reference" title="Balobaid, A., Ben-Omran, T., Ramzan, K., Altassan, R., Almureikhi, M., Musa, S., Al-Hashmi, N., Al-Owain, M., Al-Zaidan H., Al-Hassnan, Z., Imtiaz, F., Al-Sayed, M. <strong>Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin.</strong> Am. J. Med. Genet. 176A: 2850-2857, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30345601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30345601</a>] [<a href="https://doi.org/10.1002/ajmg.a.40627" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30345601">Balobaid et al. (2018)</a> identified homozygosity for a c.851A-G transition (c.851A-G, NM_033419) in exon 7 of the PGAP3 gene, resulting in a his284-to-arg (H284R) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30345601" 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">rs1567871748 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1567871748;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=rs1567871748" 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=rs1567871748" 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 sibs from Turkey, born to consanguineous parents, with hyperphosphatasia with impaired intellectual development syndrome-4 (HPMRS4; <a href="/entry/615716">615716</a>), <a href="#1" class="mim-tip-reference" title="Akgun Dogan, O., Demir, G. U., Kosukcu, C., Takiran, E. Z., Simsek-Kiper, P. O., Utine, G. E., Alikasifoglu, M., Boduroglu, K. <strong>Hyperphosphatasia with mental retardation syndrome type 4 in two siblings--expanding the phenotypic and mutational spectrum.</strong> Europ. J. Med. Genet. 62: 103535, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30217754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30217754</a>] [<a href="https://doi.org/10.1016/j.ejmg.2018.09.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30217754">Akgun Dogan et al. (2019)</a> identified homozygosity for a c.507C-A transversion (c.507C-A, NM_033419.4) in the PGAP3 gene, resulting in a tyr169-to-ter (Y169X) substitution predicted to lack the 5 transmembrane domains of the protein. The mutation, which was identified by whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in the parents. The variant was not present in an in-house database comprising 380 unrelated Turkish individuals. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30217754" 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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Europ. J. Med. Genet. 62: 103535, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30217754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30217754</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30217754" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Balobaid, A., Ben-Omran, T., Ramzan, K., Altassan, R., Almureikhi, M., Musa, S., Al-Hashmi, N., Al-Owain, M., Al-Zaidan H., Al-Hassnan, Z., Imtiaz, F., Al-Sayed, M.
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<strong>Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin.</strong>
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Am. J. Med. Genet. 176A: 2850-2857, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30345601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30345601</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30345601" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Howard, M. F., Murakami, Y., Pagnamenta, A. T., Daumer-Haas, C., Fischer, B., Hecht, J., Keays, D. A., Knight, S. J. L., Kolsch, U., Kruger, U., Leiz, S., Maeda, Y., and 9 others.
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<strong>Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.</strong>
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Am. J. Hum. Genet. 94: 278-287, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24439110/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24439110</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24439110[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=24439110" 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.ajhg.2013.12.012" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Katoh2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Katoh, M., Katoh, M.
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<strong>MGC9753 gene, located within PPP1R1B-STARD3-ERBB2-GRB7 amplicon on human chromosome 17q12, encodes the seven-transmembrane receptor with extracellular six-cystein (sic) domain.</strong>
|
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Int. J. Oncol. 22: 1369-1374, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12739007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12739007</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12739007" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Maddirevula2018" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Maddirevula, S., Alsahli, S., Alhabeeb, L., Patel, N., Alzahrani, F., Shamseldin, H. E., Anazi, S., Ewida, N., Alsaif, H. S., Mohamed, J. Y., Alazami, A. M., Ibrahim, N., and 44 others.
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<strong>Expanding the phenome and variome of skeletal dysplasia.</strong>
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Genet. Med. 20: 1609-1616, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29620724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29620724</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29620724" 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/gim.2018.50" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Nezu2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nezu, M., Nishigaki, M., Ishizuka, T., Kuwahara, Y., Tanabe, C., Aoyagi, K., Sakamoto, H., Saito, Y., Yoshida, T., Sasaki, H., Terada, M.
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|
<strong>Identification of the CAB2/hCOS16 gene required for the repair of DNA double-strand breaks on a core amplified region of the 17q12 locus in breast and gastric cancers.</strong>
|
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Jpn. J. Cancer Res. 93: 1183-1186, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12460457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12460457</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12460457" 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/10.1111/j.1349-7006.2002.tb01221.x" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Thompson2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Thompson, M. D., Roscioli, T., Marcelis, C., Nezarati, M. M., Stolte-Dijkstra, I., Sharom, F. J., Lu, P., Phillips, J. A., Sweeney, E., Robinson, P. N., Krawitz, P., Yntema, H. G., Andrade, D. M., Brunner, H. G., Cole, D. E. C.
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<strong>Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome).</strong>
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Am. J. Med. Genet. 158A: 553-558, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22315194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22315194</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22315194" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.35202" target="_blank">Full Text</a>]
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</p>
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</ol>
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<br />
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 07/24/2020
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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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<span class="mim-text-font">
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Sonja A. Rasmussen - updated : 06/23/2020<br>Ada Hamosh - updated : 04/17/2020<br>Cassandra L. Kniffin - updated : 3/27/2014
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</span>
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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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Patricia A. Hartz : 2/18/2008
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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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carol : 11/07/2022
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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 : 09/20/2021<br>carol : 07/24/2020<br>carol : 06/25/2020<br>carol : 06/23/2020<br>alopez : 04/17/2020<br>mcolton : 05/08/2015<br>carol : 3/28/2014<br>ckniffin : 3/27/2014<br>ckniffin : 3/27/2014<br>mgross : 2/24/2014<br>mgross : 2/18/2008
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</span>
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<div class="container visible-print-block">
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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> 611801
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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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POST-GPI ATTACHMENT TO PROTEINS 3; PGAP3
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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PER1-LIKE DOMAIN-CONTAINING PROTEIN 1; PERLD1<br />
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GENE COAMPLIFIED WITH ERBB2; CAB2<br />
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MGC9753
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</span>
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</h4>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: PGAP3</em></strong>
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</span>
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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: 17q12
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Genomic coordinates <span class="small">(GRCh38)</span> : 17:39,671,122-39,688,057 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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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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<td rowspan="1">
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<span class="mim-font">
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17q12
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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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Hyperphosphatasia with impaired intellectual development syndrome 4
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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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615716
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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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 PGAP3 gene encodes a glycophosphatidylinositol (GPI)-specific phospholipase A2 that is expressed in the Golgi. The enzyme is involved in fatty acid GPI remodeling that is critical for proper association between GPI-anchored proteins and lipid rafts (summary by Howard et al., 2014). </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>Nezu et al. (2002) identified the PERLD1 gene, which they called CAB2, in a region of chromosome 17 amplified in breast and gastric cancers, and they obtained a full-length CAB2 cDNA by screening a breast cancer cell line cDNA library. The deduced 319-amino acid protein contains several transmembrane domains. CAB2 was ubiquitously expressed, with highest levels in adult thyroid and placenta and in all 4 fetal tissues examined. Fluorescence-tagged CAB2 accumulated in cytoplasmic vesicles in a transfected human breast cancer cell line. By database analysis, Nezu et al. (2002) identified CAB2 homologs in yeast, worm, fly, and plant. </p><p>By database analysis, Katoh and Katoh (2003) identified mouse and human PERLD1, which they designated MGC9753. Human MGC9753 contains 2 ORFs, but only the first is conserved in mouse. The human and mouse MGC9753 proteins contain 320 amino acids and share 85% amino acid identity. Both have an N-terminal signal peptide, followed by an extracellular 6-cysteine domain, 7 transmembrane domains, and an N-glycosylation site at asn40. Human MGC9753 shares 90.6% identity with the CAB2 protein reported by Nezu et al. (2002), which diverges in the central region and lacks transmembrane domain-3 due to a frameshift. Katoh and Katoh (2003) concluded that CAB2 is an aberrant protein that may accumulate in vesicles due to sorting error. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene Structure</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
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<p>Katoh and Katoh (2003) determined that the PERLD1 gene contains 8 exons and spans about 17 kb. </p>
|
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>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">
|
|
<p>By genomic sequence analysis, Nezu et al. (2002) mapped the PERLD1 gene to a region of chromosome 17q12 that is amplified in breast and gastric cancers. </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 5 patients from 3 families with hyperphosphatasia with impaired intellectual development syndrome-4 (HPMRS4; 615716), Howard et al. (2014) identified homozygous or compound heterozygous mutations in the PGAP3 gene (611801.0001-611801.0004). The mutation in the first family was found by exome sequencing. Transfection of wildtype PGAP3 into CHO cells that lack both PGAP3 and PGAP2 (615187) restored the first step in fatty acid remodeling, but the second step remained defective, leading to a reduction in surface levels of GPI-anchored proteins. In vitro functional expression studies in CHO cells showed that the mutant PGAP3 proteins had either no or only residual enzymatic activity. The phenotype was characterized by severely delayed psychomotor development, impaired intellectual development, lack of speech acquisition, seizures, and dysmorphic facial features. Laboratory studies showed increased serum alkaline phosphatase. </p><p>In 9 patients from 5 Saudi families with HPMRS4, Maddirevula et al. (2018) identified a his284-to-tyr mutation (H284Y; 611801.0005) in the PGAP3 gene. </p><p>In 14 patients from 8 Arab families with HPMRS4, Balobaid et al. (2018) identified homozygosity for 3 missense mutations in the PGAP3 gene: H284Y, H284R (611801.0006), and S107L. Seven of the families were consanguineous. The mutations, which were found by homozygosity mapping and whole-exome sequencing, segregated with the disorder in all families for which DNA was available from the parents. </p><p>In 2 sibs from Turkey, born to consanguineous parents, with HPMRS4, Akgun Dogan et al. (2019) identified homozygosity for a nonsense mutation in the PGAP3 gene (Y169X; 611801.0007). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
|
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</span>
|
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<strong>7 Selected Examples):</strong>
|
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</span>
|
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</h4>
|
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<div>
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<p />
|
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0001 HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4</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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PGAP3, GLY92ASP
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<br />
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SNP: rs587777251,
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ClinVar: RCV000111462
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 3 sibs, born of consanguineous Pakistani parents with hyperphosphatasia with impaired intellectual development syndrome-4 (HPMRS4; 615716), Howard et al. (2014) identified a homozygous c.275G-A transition in the PGAP3 gene, resulting in a gly92-to-asp (G92D) substitution at a highly conserved residue in a juxtamembrane position on the luminal side. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not present in the Exome Variant Server, dbSNP (build 137), or 1000 Genomes Project databases, or in 108 ethnically matched controls. In vitro functional expression studies in CHO cells showed that the mutant G92D protein had almost no or absent enzyme activity. Electrophoresis and immunoblotting studies showed that the G92D protein was full-sized, had normally matured N-glycan, and localized to the Golgi, similar to wildtype. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4</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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PGAP3, 1-BP DUP, 439C
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<br />
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SNP: rs869312815,
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gnomAD: rs869312815,
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ClinVar: RCV000210253
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 10-year-old Caucasian American girl with hyperphosphatasia with impaired intellectual development syndrome-4 (HPMRS4; 615716), originally reported (patient 4) by Thompson et al. (2012), Howard et al. (2014) identified compound heterozygous mutations in the PGAP3 gene: a 1-bp duplication (c.439dupC), predicted to result in a frameshift and premature termination (Leu147ProfsTer16), and a c.914A-G transition, resulting in an asp305-to-gly (D305G; 611801.0003) substitution at a highly conserved residue in the cytoplasmic tail. The unaffected parents were heterozygous for one of the mutations. In vitro functional expression studies in CHO cells showed that the mutant D305G protein had some residual enzyme activity, whereas the c.439dupC mutant had no residual enzyme activity, and was likely degraded by nonsense-mediated mRNA decay. Electrophoresis and immunoblotting studies showed that the D305G protein had only immature ER-form N-glycan and did not localize properly to the Golgi, but was retained in the ER. Flow cytometric analysis of patient cells showed a reduction in the cell surface levels of GPI-anchored proteins. </p>
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</span>
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<br />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4</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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PGAP3, ASP305GLY
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<br />
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SNP: rs587777252,
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gnomAD: rs587777252,
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ClinVar: RCV000111464, RCV000493877
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the asp305-to-gly (D305G) mutation in the PGAP3 gene that was found in compound heterozygous state in a patient with hyperphosphatasia with impaired intellectual development syndrome-4 (HPMRS4; 615716) by Howard et al. (2014), see 611801.0002. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4</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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PGAP3, PRO105ARG
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<br />
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SNP: rs371549948,
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gnomAD: rs371549948,
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ClinVar: RCV000111465
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 2-year-old girl, born of consanguineous Saudi Arabian parents, with hyperphosphatasia with impaired intellectual development syndrome-4 (HPMRS4; 615716), Howard et al. (2014) identified a homozygous c.314C-G transversion in the PGAP3 gene, resulting in a pro105-to-arg (P105R) substitution at a highly conserved residue in the first transmembrane domain. The unaffected parents were heterozygous for the mutation, which was not found in 52 Arab controls or in the Exome Variant Server database. In vitro functional expression studies in CHO cells showed that the mutant P105R protein had low residual enzyme activity. Electrophoresis and immunoblotting studies showed that the P105R protein had only immature ER-form N-glycan and did not localize properly to the Golgi, but was retained in the ER. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4</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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PGAP3, HIS284TYR
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<br />
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SNP: rs759541820,
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gnomAD: rs759541820,
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ClinVar: RCV000985140
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 9 patients from 5 Saudi families with hyperphosphatasia with impaired intellectual development syndrome-4 (HPMRS4; 615716), Maddirevula et al. (2018) identified homozygosity for a founder c.850C-T transition (c.850C-T, NM_033419.3) in the PGAP3 gene that resulted in a histidine-to-tyrosine substitution at codon 284 (H284Y). This variant was absent from the gnomAD database on April 14, 2020 (Hamosh, 2020). </p><p>In 4 patients from 2 consanguineous Saudi families with HPMRS4, Balobaid et al. (2018) identified homozygosity for the H284Y mutation in the PGAP3 gene. The authors proposed that this mutation might represent a founder mutation warranting targeted genetic testing once clinical suspicion of HPMRS4 is raised. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0006 HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4</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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PGAP3, HIS284ARG
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<br />
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SNP: rs776720232,
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gnomAD: rs776720232,
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ClinVar: RCV001194673, RCV001552976, RCV005055388
|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>In 8 patients from 5 unrelated families (3 from Qatar and 2 from Oman) with hyperphosphatasia with impaired intellectual development syndrome-4 (HPMRS4; 615716) Balobaid et al. (2018) identified homozygosity for a c.851A-G transition (c.851A-G, NM_033419) in exon 7 of the PGAP3 gene, resulting in a his284-to-arg (H284R) substitution. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0007 HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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PGAP3, TYR169TER
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<br />
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SNP: rs1567871748,
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ClinVar: RCV000709689
|
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sibs from Turkey, born to consanguineous parents, with hyperphosphatasia with impaired intellectual development syndrome-4 (HPMRS4; 615716), Akgun Dogan et al. (2019) identified homozygosity for a c.507C-A transversion (c.507C-A, NM_033419.4) in the PGAP3 gene, resulting in a tyr169-to-ter (Y169X) substitution predicted to lack the 5 transmembrane domains of the protein. The mutation, which was identified by whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in the parents. The variant was not present in an in-house database comprising 380 unrelated Turkish individuals. Functional studies were not performed. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</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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<ol>
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<li>
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<p class="mim-text-font">
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Akgun Dogan, O., Demir, G. U., Kosukcu, C., Takiran, E. Z., Simsek-Kiper, P. O., Utine, G. E., Alikasifoglu, M., Boduroglu, K.
|
|
<strong>Hyperphosphatasia with mental retardation syndrome type 4 in two siblings--expanding the phenotypic and mutational spectrum.</strong>
|
|
Europ. J. Med. Genet. 62: 103535, 2019.
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[PubMed: 30217754]
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[Full Text: https://doi.org/10.1016/j.ejmg.2018.09.002]
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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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Balobaid, A., Ben-Omran, T., Ramzan, K., Altassan, R., Almureikhi, M., Musa, S., Al-Hashmi, N., Al-Owain, M., Al-Zaidan H., Al-Hassnan, Z., Imtiaz, F., Al-Sayed, M.
|
|
<strong>Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin.</strong>
|
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Am. J. Med. Genet. 176A: 2850-2857, 2018.
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[PubMed: 30345601]
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[Full Text: https://doi.org/10.1002/ajmg.a.40627]
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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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Hamosh, A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 04/14/2020.
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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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Howard, M. F., Murakami, Y., Pagnamenta, A. T., Daumer-Haas, C., Fischer, B., Hecht, J., Keays, D. A., Knight, S. J. L., Kolsch, U., Kruger, U., Leiz, S., Maeda, Y., and 9 others.
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<strong>Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.</strong>
|
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Am. J. Hum. Genet. 94: 278-287, 2014.
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[PubMed: 24439110]
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[Full Text: https://doi.org/10.1016/j.ajhg.2013.12.012]
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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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Katoh, M., Katoh, M.
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<strong>MGC9753 gene, located within PPP1R1B-STARD3-ERBB2-GRB7 amplicon on human chromosome 17q12, encodes the seven-transmembrane receptor with extracellular six-cystein (sic) domain.</strong>
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Int. J. Oncol. 22: 1369-1374, 2003.
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[PubMed: 12739007]
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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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Maddirevula, S., Alsahli, S., Alhabeeb, L., Patel, N., Alzahrani, F., Shamseldin, H. E., Anazi, S., Ewida, N., Alsaif, H. S., Mohamed, J. Y., Alazami, A. M., Ibrahim, N., and 44 others.
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<strong>Expanding the phenome and variome of skeletal dysplasia.</strong>
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Genet. Med. 20: 1609-1616, 2018.
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[PubMed: 29620724]
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[Full Text: https://doi.org/10.1038/gim.2018.50]
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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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Nezu, M., Nishigaki, M., Ishizuka, T., Kuwahara, Y., Tanabe, C., Aoyagi, K., Sakamoto, H., Saito, Y., Yoshida, T., Sasaki, H., Terada, M.
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<strong>Identification of the CAB2/hCOS16 gene required for the repair of DNA double-strand breaks on a core amplified region of the 17q12 locus in breast and gastric cancers.</strong>
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Jpn. J. Cancer Res. 93: 1183-1186, 2002.
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[PubMed: 12460457]
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[Full Text: https://doi.org/10.1111/j.1349-7006.2002.tb01221.x]
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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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Thompson, M. D., Roscioli, T., Marcelis, C., Nezarati, M. M., Stolte-Dijkstra, I., Sharom, F. J., Lu, P., Phillips, J. A., Sweeney, E., Robinson, P. N., Krawitz, P., Yntema, H. G., Andrade, D. M., Brunner, H. G., Cole, D. E. C.
|
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<strong>Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome).</strong>
|
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Am. J. Med. Genet. 158A: 553-558, 2012.
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[PubMed: 22315194]
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[Full Text: https://doi.org/10.1002/ajmg.a.35202]
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</p>
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</li>
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</ol>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 07/24/2020<br>Sonja A. Rasmussen - updated : 06/23/2020<br>Ada Hamosh - updated : 04/17/2020<br>Cassandra L. Kniffin - updated : 3/27/2014
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 2/18/2008
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<span class="mim-text-font">
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carol : 11/07/2022<br>carol : 09/20/2021<br>carol : 07/24/2020<br>carol : 06/25/2020<br>carol : 06/23/2020<br>alopez : 04/17/2020<br>mcolton : 05/08/2015<br>carol : 3/28/2014<br>ckniffin : 3/27/2014<br>ckniffin : 3/27/2014<br>mgross : 2/24/2014<br>mgross : 2/18/2008
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