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<title>
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Entry
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- *605754 - PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS Q PROTEIN; PIGQ
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- OMIM
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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Advanced Search
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<a href="/search/advanced/entry"> OMIM </a>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<a href="/search/advanced/geneMap"> Gene Map </a>
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*605754</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 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>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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</li>
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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>
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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>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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</li>
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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/605754">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000007541;t=ENST00000321878" 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=9091" 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=605754" 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=ENSG00000007541;t=ENST00000321878" 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_004204,NM_148920" 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_004204" 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=605754" 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=09307&isoform_id=09307_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/PIGQ" 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/2623158,2911142,13623537,14336703,22538450,22538453,30173119,119606201,119606202,119606203,119606204,119606205,119606206,189067283,193787273,194390584" 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/Q9BRB3" 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=9091" 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=ENSG00000007541;t=ENST00000321878" 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=PIGQ" 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=PIGQ" 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+9091" 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/PIGQ" 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:9091" 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/9091" 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=chr16&hgg_gene=ENST00000635107.1&hgg_start=569968&hgg_end=584109&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=605754[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=605754[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000007541" 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=PIGQ" 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=PIGQ" 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=PIGQ" 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=PIGQ&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/PA33299" 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:14135" 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/FBgn0086448.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:1333114" 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/PIGQ#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:1333114" 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/9091/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=9091" 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=WBGene00008504;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-030131-9793" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
|
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9091" 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=PIGQ&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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605754
|
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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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PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS Q PROTEIN; PIGQ
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=PIGQ" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PIGQ</a></em></strong>
|
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
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Cytogenetic location: <a href="/geneMap/16/31?start=-3&limit=10&highlight=31">16p13.3</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr16:569968-584109&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'})">16:569,968-584,109</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
|
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
|
<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>
|
|
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>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/16/31?start=-3&limit=10&highlight=31">
|
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16p13.3
|
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</a>
|
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</span>
|
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</td>
|
|
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|
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|
<td>
|
|
<span class="mim-font">
|
|
Multiple congenital anomalies-hypotonia-seizures 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">
|
|
|
|
<a href="/entry/618548"> 618548 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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<p>Many eukaryotic proteins are anchored to the membrane through the hydrocarbon chains of a covalently bound glycosylphosphatidylinositol (GPI) membrane anchor. GPI anchoring is important for regulation of cell growth and activation. GPI biosynthesis in the endoplasmic reticulum (ER) is initiated by transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). This transfer is catalyzed by GlcNAc transferase (GPI-GnT) and enzyme activity requires several genes, including PIGQ (summary by <a href="#6" class="mim-tip-reference" title="Tiede, A., Schubert, J., Nischan, C., Jensen, I., Westfall, B., Taron, C. H., Orlean, P., Schmidt, R. E. <strong>Human and mouse Gpi1p homologues restore glycosylphosphatidylinositol membrane anchor biosynthesis in yeast mutants.</strong> Biochem. J. 334: 609-616, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9729469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9729469</a>] [<a href="https://doi.org/10.1042/bj3340609" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9729469">Tiede et al., 1998</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9729469" 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>For information on the PIG gene family and the roles of PIG proteins in GPI biosynthesis, see PIGA (<a href="/entry/311770">311770</a>).</p>
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<p>In a database search for homologs of yeast Gpi1, <a href="#6" class="mim-tip-reference" title="Tiede, A., Schubert, J., Nischan, C., Jensen, I., Westfall, B., Taron, C. H., Orlean, P., Schmidt, R. E. <strong>Human and mouse Gpi1p homologues restore glycosylphosphatidylinositol membrane anchor biosynthesis in yeast mutants.</strong> Biochem. J. 334: 609-616, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9729469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9729469</a>] [<a href="https://doi.org/10.1042/bj3340609" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9729469">Tiede et al. (1998)</a> and <a href="#7" class="mim-tip-reference" title="Watanabe, R., Inoue, N., Westfall, B., Taron, C. H., Orlean, P., Takeda, J., Kinoshita, T. <strong>The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1.</strong> EMBO J. 17: 877-885, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9463366/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9463366</a>] [<a href="https://doi.org/10.1093/emboj/17.4.877" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9463366">Watanabe et al. (1998)</a> identified PIGQ, which they called hGPI1. The full-length PIGQ cDNA encodes a deduced 581-amino acid protein that shares 24% overall amino acid identity with yeast Gpi1. The C-terminal half of PIGQ is better conserved than the N-terminal half. <a href="#7" class="mim-tip-reference" title="Watanabe, R., Inoue, N., Westfall, B., Taron, C. H., Orlean, P., Takeda, J., Kinoshita, T. <strong>The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1.</strong> EMBO J. 17: 877-885, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9463366/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9463366</a>] [<a href="https://doi.org/10.1093/emboj/17.4.877" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9463366">Watanabe et al. (1998)</a> predicted that PIGQ has several hydrophobic regions, some of which may be transmembrane domains, and a potential tyrosine phosphorylation site in the third cytoplasmic loop. <a href="#6" class="mim-tip-reference" title="Tiede, A., Schubert, J., Nischan, C., Jensen, I., Westfall, B., Taron, C. H., Orlean, P., Schmidt, R. E. <strong>Human and mouse Gpi1p homologues restore glycosylphosphatidylinositol membrane anchor biosynthesis in yeast mutants.</strong> Biochem. J. 334: 609-616, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9729469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9729469</a>] [<a href="https://doi.org/10.1042/bj3340609" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9729469">Tiede et al. (1998)</a> predicted that most of the amino acids and conserved residues are on the cytoplasmic face of the ER and that there are no significant domains in the lumen of the ER. <a href="#6" class="mim-tip-reference" title="Tiede, A., Schubert, J., Nischan, C., Jensen, I., Westfall, B., Taron, C. H., Orlean, P., Schmidt, R. E. <strong>Human and mouse Gpi1p homologues restore glycosylphosphatidylinositol membrane anchor biosynthesis in yeast mutants.</strong> Biochem. J. 334: 609-616, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9729469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9729469</a>] [<a href="https://doi.org/10.1042/bj3340609" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9729469">Tiede et al. (1998)</a> and <a href="#2" class="mim-tip-reference" title="Hong, Y., Ohishi, K., Watanabe, R., Endo, Y., Maeda, Y., Kinoshita, T. <strong>GPI1 stabilizes an enzyme essential in the first step of glycosylphosphatidylinositol biosynthesis.</strong> J. Biol. Chem. 274: 18582-18588, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10373468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10373468</a>] [<a href="https://doi.org/10.1074/jbc.274.26.18582" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10373468">Hong et al. (1999)</a> independently cloned the mouse PIGQ homolog, which shares 85 to 89% amino acid identity with human PIGQ. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9463366+10373468+9729469" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using immunoprecipitation experiments, <a href="#7" class="mim-tip-reference" title="Watanabe, R., Inoue, N., Westfall, B., Taron, C. H., Orlean, P., Takeda, J., Kinoshita, T. <strong>The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1.</strong> EMBO J. 17: 877-885, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9463366/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9463366</a>] [<a href="https://doi.org/10.1093/emboj/17.4.877" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9463366">Watanabe et al. (1998)</a> demonstrated that PIGQ associates specifically with PIGA, PIGC (<a href="/entry/601730">601730</a>), and PIGH (<a href="/entry/600154">600154</a>) and that all 4 proteins form a complex that has GPI-GnT activity in vitro. The authors concluded that these 4 proteins form part or all of GPI-GnT. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9463366" 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 expressing the mouse and human PIGQ in Gpi1-deficient S. cerevisiae, <a href="#6" class="mim-tip-reference" title="Tiede, A., Schubert, J., Nischan, C., Jensen, I., Westfall, B., Taron, C. H., Orlean, P., Schmidt, R. E. <strong>Human and mouse Gpi1p homologues restore glycosylphosphatidylinositol membrane anchor biosynthesis in yeast mutants.</strong> Biochem. J. 334: 609-616, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9729469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9729469</a>] [<a href="https://doi.org/10.1042/bj3340609" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9729469">Tiede et al. (1998)</a> demonstrated that PIGQ specifically rescues S. cerevisiae Gpi1 mutants, indicating that mouse and human PIGQ are indeed orthologs of yeast Gpi1 and that there is a high degree of evolutionary conservation in GPI biosynthesis. <a href="#6" class="mim-tip-reference" title="Tiede, A., Schubert, J., Nischan, C., Jensen, I., Westfall, B., Taron, C. H., Orlean, P., Schmidt, R. E. <strong>Human and mouse Gpi1p homologues restore glycosylphosphatidylinositol membrane anchor biosynthesis in yeast mutants.</strong> Biochem. J. 334: 609-616, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9729469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9729469</a>] [<a href="https://doi.org/10.1042/bj3340609" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9729469">Tiede et al. (1998)</a> concluded that PIGQ is involved in the first step of GPI biosynthesis and that the specific function of PIGQ may be to stabilize the enzyme complex in the ER rather than to participate in catalysis of GlcNAc transfer. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9729469" 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 comparing cDNA and genomic sequence, <a href="#2" class="mim-tip-reference" title="Hong, Y., Ohishi, K., Watanabe, R., Endo, Y., Maeda, Y., Kinoshita, T. <strong>GPI1 stabilizes an enzyme essential in the first step of glycosylphosphatidylinositol biosynthesis.</strong> J. Biol. Chem. 274: 18582-18588, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10373468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10373468</a>] [<a href="https://doi.org/10.1074/jbc.274.26.18582" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10373468">Hong et al. (1999)</a> predicted that PIGQ is encoded by 11 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10373468" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using fluorescence in situ hybridization, <a href="#2" class="mim-tip-reference" title="Hong, Y., Ohishi, K., Watanabe, R., Endo, Y., Maeda, Y., Kinoshita, T. <strong>GPI1 stabilizes an enzyme essential in the first step of glycosylphosphatidylinositol biosynthesis.</strong> J. Biol. Chem. 274: 18582-18588, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10373468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10373468</a>] [<a href="https://doi.org/10.1074/jbc.274.26.18582" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10373468">Hong et al. (1999)</a> mapped the PIGQ gene to chromosome 16p13.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10373468" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a child of West African descent with multiple congenital anomalies-hypotonia-seizures syndrome-4 (MCAHS4; <a href="/entry/618548">618548</a>), <a href="#4" class="mim-tip-reference" title="Martin, H. C., Kim, G. E., Pagnamenta, A. T., Murakami, Y., Carvill, G. L., Meyer, E., Copley, R. R., Rimmer, A., Barcia, G., Fleming, M. R., Kronengold, J., Brown, M. R., and 21 others. <strong>Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.</strong> Hum. Molec. Genet. 23: 3200-3211, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24463883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24463883</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24463883[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddu030" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24463883">Martin et al. (2014)</a> identified a homozygous splice site mutation in the PIGQ gene (<a href="#0001">605754.0001</a>). The mutation, which was found by whole-genome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The mutation occurred before the catalytic domain of PIGQ, suggesting that it abrogated the function of the enzyme and led to a reduction in GPI synthesis. Transfection of the mutation into PIGQ-deficient CHO cells did not restore GPI-anchored protein expression as efficiently as wildtype, and expression of the mutant protein was decreased compared to wildtype, consistent with a loss-of-function effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24463883" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient (12DG0223) with MCAHS4, <a href="#1" class="mim-tip-reference" title="Alazami, A. M., Patel, N., Shamseldin, H. E., Anazi, S., Al-Dosari, M. S., Alzahrani, F., Hijazi, H., Alshammari, M., Aldahmesh, M. A., Salih, M. A., Faqeih, E., Alhashem, A., and 41 others. <strong>Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.</strong> Cell Rep. 10: 148-161, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25558065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25558065</a>] [<a href="https://doi.org/10.1016/j.celrep.2014.12.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25558065">Alazami et al. (2015)</a> identified a homozygous nonsense mutation in the PIGQ gene (R207X; <a href="#0002">605754.0002</a>). The patient was part of a large cohort of 143 multiplex consanguineous families with various neurodevelopmental disorders who underwent whole-exome sequencing. Functional studies of the PIGQ variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25558065" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a male infant with MCAHS4, <a href="#5" class="mim-tip-reference" title="Starr, L. J., Spranger, J. W., Rao, V. K., Lutz, R., Yetman, A. T. <strong>PIGQ glycosylphosphatidylinositol-anchored protein deficiency: characterizing the phenotype.</strong> Am. J. Med. Genet. 179A: 1270-1275, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31148362/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31148362</a>] [<a href="https://doi.org/10.1002/ajmg.a.61185" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31148362">Starr et al. (2019)</a> identified compound heterozygous mutations in the PIGQ gene (<a href="/entry/605765#0003">605765.0003</a> and <a href="#0004">605754.0004</a>). The mutations, which were found by whole-exome sequencing, were each inherited from an unaffected parent, confirming segregation within the family. Functional studies of the variants and studies of patient cells were not performed, but the variants were predicted to have a loss-of-function effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31148362" 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 7 patients from 6 families with MCAHS4, <a href="#3" class="mim-tip-reference" title="Johnstone, D. L., Nguyen, T. T. M., Zambonin, J., Kernohan, K. D., St-Denis, A., Baratang, N. V., Hartley, T., Geraghty, M. T., Richer, J., Majewski, J., Bareke, E., Guerin, A., and 12 others. <strong>Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: report of seven new subjects and review of the literature.</strong> J. Inherit. Metab. Dis. 43: 1321-1332, 2020. Note: Erratum: J. Inherit. Metab. Dis. 46: 156 only, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32588908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32588908</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32588908[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/10.1002/jimd.12278" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32588908">Johnstone et al. (2020)</a> identified 8 different mutations in the PIGQ gene (see, e.g., <a href="#0004">605754.0004</a>-<a href="#0006">605754.0006</a>), 7 of which were novel, in homozygous or compound heterozygous state. The mutations were identified by whole-exome sequencing. In blood from 2 patients (St4 and St5), flow cytometry revealed low levels of FLAER and CD16 (see <a href="/entry/146740">146740</a>) cell surface localization. Markers of GPI-anchored proteins measured by flow cytometry were decreased in fibroblasts from patients St3b and St5. Transduction with a lentivirus containing wildtype PIGQ completely restored GPI-anchored protein expression in fibroblasts from patient St3b and partially restored the expression in fibroblasts from patient St5. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32588908" 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="#2" class="mim-tip-reference" title="Hong, Y., Ohishi, K., Watanabe, R., Endo, Y., Maeda, Y., Kinoshita, T. <strong>GPI1 stabilizes an enzyme essential in the first step of glycosylphosphatidylinositol biosynthesis.</strong> J. Biol. Chem. 274: 18582-18588, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10373468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10373468</a>] [<a href="https://doi.org/10.1074/jbc.274.26.18582" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10373468">Hong et al. (1999)</a> disrupted the mouse Gpi1 gene in F9 embryonal carcinoma cells, which caused a severe but not complete defect in the generation of GPI-anchored proteins. A complex of Piga, Pigh, and Pigc decreased to a nearly undetectable level, whereas a complex of Piga and Pigh was easily detected. A lack of Gpi1 also caused partial decreases of Pigc and Pigh. Therefore, GPI1 stabilizes the enzyme by tying up Pigc with a complex of Piga and Pigh. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10373468" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=605754[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs587777543 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777543;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/rs587777543?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=rs587777543" 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=rs587777543" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a child of West African descent with multiple congenital anomalies-hypotonia-seizures syndrome-4 (MCAHS4; <a href="/entry/618548">618548</a>), <a href="#4" class="mim-tip-reference" title="Martin, H. C., Kim, G. E., Pagnamenta, A. T., Murakami, Y., Carvill, G. L., Meyer, E., Copley, R. R., Rimmer, A., Barcia, G., Fleming, M. R., Kronengold, J., Brown, M. R., and 21 others. <strong>Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.</strong> Hum. Molec. Genet. 23: 3200-3211, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24463883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24463883</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24463883[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddu030" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24463883">Martin et al. (2014)</a> identified a homozygous A-to-G transition in intron 2 of the PIGQ gene (c.690-2A-G, NM_004204), resulting in the skipping of exon 3 and an in-frame deletion of 44 amino acids. The mutation, which was found by whole-genome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The mutation occurred before the catalytic domain of PIGQ, suggesting that it abrogated the function of the enzyme and led to a reduction in GPI synthesis. Transfection of the mutation into PIGQ-deficient CHO cells did not restore GPI-anchored protein expression as efficiently as wildtype, and expression of the mutant protein was decreased compared to wildtype, consistent with a loss-of-function effect. The patient had onset of seizures at 4 weeks of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24463883" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a patient (12DG0223) with multiple congenital anomalies-hypotonia-seizures syndrome-4 (MCAHS4; <a href="/entry/618548">618548</a>), <a href="#1" class="mim-tip-reference" title="Alazami, A. M., Patel, N., Shamseldin, H. E., Anazi, S., Al-Dosari, M. S., Alzahrani, F., Hijazi, H., Alshammari, M., Aldahmesh, M. A., Salih, M. A., Faqeih, E., Alhashem, A., and 41 others. <strong>Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.</strong> Cell Rep. 10: 148-161, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25558065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25558065</a>] [<a href="https://doi.org/10.1016/j.celrep.2014.12.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25558065">Alazami et al. (2015)</a> identified a homozygous c.619C-T transition (c.619C-T, NM_004204.2) in the PIGQ gene, resulting in an arg207-to-ter (R207X) substitution. The patient was part of a large cohort of 143 multiplex consanguineous families with various neurodevelopmental disorders who underwent whole-exome sequencing. Functional studies of the PIGQ variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25558065" 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> rs747661902 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs747661902;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/rs747661902?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=rs747661902" 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=rs747661902" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a male infant with multiple congenital anomalies-hypotonia-seizures syndrome-4 (MCAHS4; <a href="/entry/618548">618548</a>), <a href="#5" class="mim-tip-reference" title="Starr, L. J., Spranger, J. W., Rao, V. K., Lutz, R., Yetman, A. T. <strong>PIGQ glycosylphosphatidylinositol-anchored protein deficiency: characterizing the phenotype.</strong> Am. J. Med. Genet. 179A: 1270-1275, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31148362/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31148362</a>] [<a href="https://doi.org/10.1002/ajmg.a.61185" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31148362">Starr et al. (2019)</a> identified compound heterozygous mutations in the PIGQ gene: a 2-bp deletion (c.968_969delTG), predicted to result in a frameshift and premature termination (Leu323ProfsTer119), and an in-frame 3-bp deletion (c.1199_1201delACT; <a href="#0004">605754.0004</a>), predicted to result in the deletion of conserved residue Tyr400 (Y400del). The mutations, which were found by whole-exome sequencing, were each inherited from an unaffected parent, confirming segregation within the family. The Y400del mutation was found at a low frequency (0.02%) in the ExAC database. Functional studies of the variants and studies of patient cells were not performed, but the variants were predicted to have a loss-of-function effect. The patient had onset of refractory seizures around 7 months of age and died at 10 months. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31148362" 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> rs766667249 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs766667249;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/rs766667249?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=rs766667249" 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=rs766667249" 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=RCV000518905 OR RCV000624078 OR RCV000850141 OR RCV001240418" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000518905, RCV000624078, RCV000850141, RCV001240418" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000518905...</a>
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<p>For discussion of the in-frame 3-bp deletion (c.1199_1201delACT) in the PIGQ gene, predicted to result in the deletion of conserved residue Tyr400 (Y400del), that was found in compound heterozygous state in a patient with multiple congenital anomalies-hypotonia-seizures syndrome-4 (MCAHS4; <a href="/entry/618548">618548</a>) by <a href="#5" class="mim-tip-reference" title="Starr, L. J., Spranger, J. W., Rao, V. K., Lutz, R., Yetman, A. T. <strong>PIGQ glycosylphosphatidylinositol-anchored protein deficiency: characterizing the phenotype.</strong> Am. J. Med. Genet. 179A: 1270-1275, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31148362/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31148362</a>] [<a href="https://doi.org/10.1002/ajmg.a.61185" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31148362">Starr et al. (2019)</a>, see <a href="#0004">605754.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31148362" 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 female sibs (patients St3a and St3b) with MCAHS4, <a href="#3" class="mim-tip-reference" title="Johnstone, D. L., Nguyen, T. T. M., Zambonin, J., Kernohan, K. D., St-Denis, A., Baratang, N. V., Hartley, T., Geraghty, M. T., Richer, J., Majewski, J., Bareke, E., Guerin, A., and 12 others. <strong>Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: report of seven new subjects and review of the literature.</strong> J. Inherit. Metab. Dis. 43: 1321-1332, 2020. Note: Erratum: J. Inherit. Metab. Dis. 46: 156 only, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32588908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32588908</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32588908[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/10.1002/jimd.12278" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32588908">Johnstone et al. (2020)</a> identified compound heterozygous mutations in the PIGQ gene: Y400del and a 2-bp deletion (c.1578_1579del; <a href="#0005">605754.0005</a>) predicted to result in a frameshift and premature termination (Gln527AlafsTer75). The mutations were identified by whole-exome sequencing. Each parent was heterozygous for one of the mutations. Flow cytometry in fibroblasts from patient St3b showed decreased FLAER and decreased CD73 (<a href="/entry/129190">129190</a>) and CD109 (<a href="/entry/608859">608859</a>) GPI-anchored proteins. Transduction with a lentivirus containing wildtype PIGQ restored GPI-anchored protein expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32588908" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient (patient St2) with MCAHS4, <a href="#3" class="mim-tip-reference" title="Johnstone, D. L., Nguyen, T. T. M., Zambonin, J., Kernohan, K. D., St-Denis, A., Baratang, N. V., Hartley, T., Geraghty, M. T., Richer, J., Majewski, J., Bareke, E., Guerin, A., and 12 others. <strong>Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: report of seven new subjects and review of the literature.</strong> J. Inherit. Metab. Dis. 43: 1321-1332, 2020. Note: Erratum: J. Inherit. Metab. Dis. 46: 156 only, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32588908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32588908</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32588908[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/10.1002/jimd.12278" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32588908">Johnstone et al. (2020)</a> identified compound heterozygous mutations in the PIGQ gene: Y400del and a c.942+1G-A mutation in intron 4 (IVS4+1G-A; <a href="#0006">605754.0006</a>), predicted to disrupt a canonical splice site. The mutations were identified by whole-exome sequencing. Each parent was heterozygous for one of the mutations. Flow cytometry in fibroblasts from the patient showed decreased CD59 (<a href="/entry/107271">107271</a>) expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32588908" 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">rs2035826930 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2035826930;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=rs2035826930" 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=rs2035826930" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the 2-bp deletion (c.1578_1579del, NM_004204.3) in the PIGQ gene, resulting in a frameshift and premature termination (Gln527AlafsTer75), that was found in compound heterozygous state in sibs with multiple congenital anomalies-hypotonia-seizures syndrome-4 (MCAHS4; <a href="/entry/618548">618548</a>) by <a href="#3" class="mim-tip-reference" title="Johnstone, D. L., Nguyen, T. T. M., Zambonin, J., Kernohan, K. D., St-Denis, A., Baratang, N. V., Hartley, T., Geraghty, M. T., Richer, J., Majewski, J., Bareke, E., Guerin, A., and 12 others. <strong>Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: report of seven new subjects and review of the literature.</strong> J. Inherit. Metab. Dis. 43: 1321-1332, 2020. Note: Erratum: J. Inherit. Metab. Dis. 46: 156 only, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32588908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32588908</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32588908[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/10.1002/jimd.12278" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32588908">Johnstone et al. (2020)</a>, see <a href="#0004">605754.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32588908" 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> rs200661329 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs200661329;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/rs200661329?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=rs200661329" 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=rs200661329" 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 IVS4+1G-A mutation (c.942+1G-A, NM_004204.3) in the PIGQ gene that was found in compound heterozygous state in a patient with multiple congenital anomalies-hypotonia-seizures syndrome-4 (MCAHS4; <a href="/entry/618548">618548</a>) by <a href="#3" class="mim-tip-reference" title="Johnstone, D. L., Nguyen, T. T. M., Zambonin, J., Kernohan, K. D., St-Denis, A., Baratang, N. V., Hartley, T., Geraghty, M. T., Richer, J., Majewski, J., Bareke, E., Guerin, A., and 12 others. <strong>Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: report of seven new subjects and review of the literature.</strong> J. Inherit. Metab. Dis. 43: 1321-1332, 2020. Note: Erratum: J. Inherit. Metab. Dis. 46: 156 only, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32588908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32588908</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32588908[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/10.1002/jimd.12278" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32588908">Johnstone et al. (2020)</a>, see <a href="#0004">605754.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32588908" 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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Alazami, A. M., Patel, N., Shamseldin, H. E., Anazi, S., Al-Dosari, M. S., Alzahrani, F., Hijazi, H., Alshammari, M., Aldahmesh, M. A., Salih, M. A., Faqeih, E., Alhashem, A., and 41 others.
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<strong>Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.</strong>
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Cell Rep. 10: 148-161, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25558065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25558065</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25558065" 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.celrep.2014.12.015" target="_blank">Full Text</a>]
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Hong, Y., Ohishi, K., Watanabe, R., Endo, Y., Maeda, Y., Kinoshita, T.
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<strong>GPI1 stabilizes an enzyme essential in the first step of glycosylphosphatidylinositol biosynthesis.</strong>
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J. Biol. Chem. 274: 18582-18588, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10373468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10373468</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10373468" 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/10.1074/jbc.274.26.18582" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="Johnstone2020" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Johnstone, D. L., Nguyen, T. T. M., Zambonin, J., Kernohan, K. D., St-Denis, A., Baratang, N. V., Hartley, T., Geraghty, M. T., Richer, J., Majewski, J., Bareke, E., Guerin, A., and 12 others.
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<strong>Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: report of seven new subjects and review of the literature.</strong>
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J. Inherit. Metab. Dis. 43: 1321-1332, 2020. Note: Erratum: J. Inherit. Metab. Dis. 46: 156 only, 2023.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32588908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32588908</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32588908[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=32588908" 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/jimd.12278" target="_blank">Full Text</a>]
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Martin2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Martin, H. C., Kim, G. E., Pagnamenta, A. T., Murakami, Y., Carvill, G. L., Meyer, E., Copley, R. R., Rimmer, A., Barcia, G., Fleming, M. R., Kronengold, J., Brown, M. R., and 21 others.
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<strong>Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.</strong>
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Hum. Molec. Genet. 23: 3200-3211, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24463883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24463883</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24463883[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=24463883" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddu030" 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="Starr2019" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Starr, L. J., Spranger, J. W., Rao, V. K., Lutz, R., Yetman, A. T.
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<strong>PIGQ glycosylphosphatidylinositol-anchored protein deficiency: characterizing the phenotype.</strong>
|
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Am. J. Med. Genet. 179A: 1270-1275, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31148362/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31148362</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31148362" 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.61185" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Tiede1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tiede, A., Schubert, J., Nischan, C., Jensen, I., Westfall, B., Taron, C. H., Orlean, P., Schmidt, R. E.
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<strong>Human and mouse Gpi1p homologues restore glycosylphosphatidylinositol membrane anchor biosynthesis in yeast mutants.</strong>
|
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Biochem. J. 334: 609-616, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9729469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9729469</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9729469" 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/10.1042/bj3340609" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Watanabe1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Watanabe, R., Inoue, N., Westfall, B., Taron, C. H., Orlean, P., Takeda, J., Kinoshita, T.
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<strong>The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1.</strong>
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EMBO J. 17: 877-885, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9463366/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9463366</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9463366" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/emboj/17.4.877" target="_blank">Full Text</a>]
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</ol>
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<br />
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<a id="contributors" class="mim-anchor"></a>
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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 : 01/26/2021
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 08/21/2019<br>Matthew B. Gross - updated : 01/10/2018<br>Cassandra L. Kniffin - updated : 7/15/2014
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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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Dawn Watkins-Chow : 3/22/2001
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</span>
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<a id="editHistory" class="mim-anchor"></a>
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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 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 : 06/08/2023
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</span>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 01/26/2021<br>carol : 10/19/2020<br>ckniffin : 10/19/2020<br>carol : 08/23/2019<br>ckniffin : 08/21/2019<br>mgross : 01/10/2018<br>mgross : 04/25/2016<br>carol : 7/18/2014<br>ckniffin : 7/15/2014<br>alopez : 7/21/2009<br>carol : 3/22/2001<br>carol : 3/22/2001
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</span>
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<div class="container visible-print-block">
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 605754
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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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PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS Q PROTEIN; PIGQ
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: PIGQ</em></strong>
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</span>
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</p>
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</div>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 16p13.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 16:569,968-584,109 </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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<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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<tr>
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<td rowspan="1">
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<span class="mim-font">
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16p13.3
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</span>
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</td>
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<td>
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<span class="mim-font">
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Multiple congenital anomalies-hypotonia-seizures 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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618548
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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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<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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<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>Many eukaryotic proteins are anchored to the membrane through the hydrocarbon chains of a covalently bound glycosylphosphatidylinositol (GPI) membrane anchor. GPI anchoring is important for regulation of cell growth and activation. GPI biosynthesis in the endoplasmic reticulum (ER) is initiated by transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). This transfer is catalyzed by GlcNAc transferase (GPI-GnT) and enzyme activity requires several genes, including PIGQ (summary by Tiede et al., 1998). </p><p>For information on the PIG gene family and the roles of PIG proteins in GPI biosynthesis, see PIGA (311770).</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>In a database search for homologs of yeast Gpi1, Tiede et al. (1998) and Watanabe et al. (1998) identified PIGQ, which they called hGPI1. The full-length PIGQ cDNA encodes a deduced 581-amino acid protein that shares 24% overall amino acid identity with yeast Gpi1. The C-terminal half of PIGQ is better conserved than the N-terminal half. Watanabe et al. (1998) predicted that PIGQ has several hydrophobic regions, some of which may be transmembrane domains, and a potential tyrosine phosphorylation site in the third cytoplasmic loop. Tiede et al. (1998) predicted that most of the amino acids and conserved residues are on the cytoplasmic face of the ER and that there are no significant domains in the lumen of the ER. Tiede et al. (1998) and Hong et al. (1999) independently cloned the mouse PIGQ homolog, which shares 85 to 89% amino acid identity with human PIGQ. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using immunoprecipitation experiments, Watanabe et al. (1998) demonstrated that PIGQ associates specifically with PIGA, PIGC (601730), and PIGH (600154) and that all 4 proteins form a complex that has GPI-GnT activity in vitro. The authors concluded that these 4 proteins form part or all of GPI-GnT. </p><p>By expressing the mouse and human PIGQ in Gpi1-deficient S. cerevisiae, Tiede et al. (1998) demonstrated that PIGQ specifically rescues S. cerevisiae Gpi1 mutants, indicating that mouse and human PIGQ are indeed orthologs of yeast Gpi1 and that there is a high degree of evolutionary conservation in GPI biosynthesis. Tiede et al. (1998) concluded that PIGQ is involved in the first step of GPI biosynthesis and that the specific function of PIGQ may be to stabilize the enzyme complex in the ER rather than to participate in catalysis of GlcNAc transfer. </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>By comparing cDNA and genomic sequence, Hong et al. (1999) predicted that PIGQ is encoded by 11 exons. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Mapping</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p>Using fluorescence in situ hybridization, Hong et al. (1999) mapped the PIGQ gene to chromosome 16p13.3. </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 a child of West African descent with multiple congenital anomalies-hypotonia-seizures syndrome-4 (MCAHS4; 618548), Martin et al. (2014) identified a homozygous splice site mutation in the PIGQ gene (605754.0001). The mutation, which was found by whole-genome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The mutation occurred before the catalytic domain of PIGQ, suggesting that it abrogated the function of the enzyme and led to a reduction in GPI synthesis. Transfection of the mutation into PIGQ-deficient CHO cells did not restore GPI-anchored protein expression as efficiently as wildtype, and expression of the mutant protein was decreased compared to wildtype, consistent with a loss-of-function effect. </p><p>In a patient (12DG0223) with MCAHS4, Alazami et al. (2015) identified a homozygous nonsense mutation in the PIGQ gene (R207X; 605754.0002). The patient was part of a large cohort of 143 multiplex consanguineous families with various neurodevelopmental disorders who underwent whole-exome sequencing. Functional studies of the PIGQ variant and studies of patient cells were not performed. </p><p>In a male infant with MCAHS4, Starr et al. (2019) identified compound heterozygous mutations in the PIGQ gene (605765.0003 and 605754.0004). The mutations, which were found by whole-exome sequencing, were each inherited from an unaffected parent, confirming segregation within the family. Functional studies of the variants and studies of patient cells were not performed, but the variants were predicted to have a loss-of-function effect. </p><p>In 7 patients from 6 families with MCAHS4, Johnstone et al. (2020) identified 8 different mutations in the PIGQ gene (see, e.g., 605754.0004-605754.0006), 7 of which were novel, in homozygous or compound heterozygous state. The mutations were identified by whole-exome sequencing. In blood from 2 patients (St4 and St5), flow cytometry revealed low levels of FLAER and CD16 (see 146740) cell surface localization. Markers of GPI-anchored proteins measured by flow cytometry were decreased in fibroblasts from patients St3b and St5. Transduction with a lentivirus containing wildtype PIGQ completely restored GPI-anchored protein expression in fibroblasts from patient St3b and partially restored the expression in fibroblasts from patient St5. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Hong et al. (1999) disrupted the mouse Gpi1 gene in F9 embryonal carcinoma cells, which caused a severe but not complete defect in the generation of GPI-anchored proteins. A complex of Piga, Pigh, and Pigc decreased to a nearly undetectable level, whereas a complex of Piga and Pigh was easily detected. A lack of Gpi1 also caused partial decreases of Pigc and Pigh. Therefore, GPI1 stabilizes the enzyme by tying up Pigc with a complex of Piga and Pigh. </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>6 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES 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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PIGQ, IVS2AS, A-G, -2
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<br />
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SNP: rs587777543,
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gnomAD: rs587777543,
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ClinVar: RCV000128637
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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 child of West African descent with multiple congenital anomalies-hypotonia-seizures syndrome-4 (MCAHS4; 618548), Martin et al. (2014) identified a homozygous A-to-G transition in intron 2 of the PIGQ gene (c.690-2A-G, NM_004204), resulting in the skipping of exon 3 and an in-frame deletion of 44 amino acids. The mutation, which was found by whole-genome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The mutation occurred before the catalytic domain of PIGQ, suggesting that it abrogated the function of the enzyme and led to a reduction in GPI synthesis. Transfection of the mutation into PIGQ-deficient CHO cells did not restore GPI-anchored protein expression as efficiently as wildtype, and expression of the mutant protein was decreased compared to wildtype, consistent with a loss-of-function effect. The patient had onset of seizures at 4 weeks of age. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES 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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PIGQ, ARG207TER
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<br />
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SNP: rs730882240,
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ClinVar: RCV000162174, RCV000850139, RCV002516438
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient (12DG0223) with multiple congenital anomalies-hypotonia-seizures syndrome-4 (MCAHS4; 618548), Alazami et al. (2015) identified a homozygous c.619C-T transition (c.619C-T, NM_004204.2) in the PIGQ gene, resulting in an arg207-to-ter (R207X) substitution. The patient was part of a large cohort of 143 multiplex consanguineous families with various neurodevelopmental disorders who underwent whole-exome sequencing. Functional studies of the PIGQ variant and studies of patient cells were not performed. </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>.0003 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES 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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PIGQ, 2-BP DEL, 968TG
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<br />
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SNP: rs747661902,
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gnomAD: rs747661902,
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ClinVar: RCV000623033, RCV000816707, RCV000850140
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a male infant with multiple congenital anomalies-hypotonia-seizures syndrome-4 (MCAHS4; 618548), Starr et al. (2019) identified compound heterozygous mutations in the PIGQ gene: a 2-bp deletion (c.968_969delTG), predicted to result in a frameshift and premature termination (Leu323ProfsTer119), and an in-frame 3-bp deletion (c.1199_1201delACT; 605754.0004), predicted to result in the deletion of conserved residue Tyr400 (Y400del). The mutations, which were found by whole-exome sequencing, were each inherited from an unaffected parent, confirming segregation within the family. The Y400del mutation was found at a low frequency (0.02%) in the ExAC database. Functional studies of the variants and studies of patient cells were not performed, but the variants were predicted to have a loss-of-function effect. The patient had onset of refractory seizures around 7 months of age and died at 10 months. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES 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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PIGQ, 3-BP DEL, 1199ACT
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<br />
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SNP: rs766667249,
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gnomAD: rs766667249,
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|
|
ClinVar: RCV000518905, RCV000624078, RCV000850141, RCV001240418
|
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</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the in-frame 3-bp deletion (c.1199_1201delACT) in the PIGQ gene, predicted to result in the deletion of conserved residue Tyr400 (Y400del), that was found in compound heterozygous state in a patient with multiple congenital anomalies-hypotonia-seizures syndrome-4 (MCAHS4; 618548) by Starr et al. (2019), see 605754.0004. </p><p>In female sibs (patients St3a and St3b) with MCAHS4, Johnstone et al. (2020) identified compound heterozygous mutations in the PIGQ gene: Y400del and a 2-bp deletion (c.1578_1579del; 605754.0005) predicted to result in a frameshift and premature termination (Gln527AlafsTer75). The mutations were identified by whole-exome sequencing. Each parent was heterozygous for one of the mutations. Flow cytometry in fibroblasts from patient St3b showed decreased FLAER and decreased CD73 (129190) and CD109 (608859) GPI-anchored proteins. Transduction with a lentivirus containing wildtype PIGQ restored GPI-anchored protein expression. </p><p>In a patient (patient St2) with MCAHS4, Johnstone et al. (2020) identified compound heterozygous mutations in the PIGQ gene: Y400del and a c.942+1G-A mutation in intron 4 (IVS4+1G-A; 605754.0006), predicted to disrupt a canonical splice site. The mutations were identified by whole-exome sequencing. Each parent was heterozygous for one of the mutations. Flow cytometry in fibroblasts from the patient showed decreased CD59 (107271) expression. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PIGQ, 2-BP DEL, NT1578
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2035826930,
|
|
|
|
|
|
|
|
ClinVar: RCV001290115
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 2-bp deletion (c.1578_1579del, NM_004204.3) in the PIGQ gene, resulting in a frameshift and premature termination (Gln527AlafsTer75), that was found in compound heterozygous state in sibs with multiple congenital anomalies-hypotonia-seizures syndrome-4 (MCAHS4; 618548) by Johnstone et al. (2020), see 605754.0004. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PIGQ, IVS4DS, G-A, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs200661329,
|
|
|
|
|
|
gnomAD: rs200661329,
|
|
|
|
|
|
ClinVar: RCV000518843, RCV000537621, RCV000787940, RCV001290116, RCV002527652
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the IVS4+1G-A mutation (c.942+1G-A, NM_004204.3) in the PIGQ gene that was found in compound heterozygous state in a patient with multiple congenital anomalies-hypotonia-seizures syndrome-4 (MCAHS4; 618548) by Johnstone et al. (2020), see 605754.0004. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
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<p />
|
|
</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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Alazami, A. M., Patel, N., Shamseldin, H. E., Anazi, S., Al-Dosari, M. S., Alzahrani, F., Hijazi, H., Alshammari, M., Aldahmesh, M. A., Salih, M. A., Faqeih, E., Alhashem, A., and 41 others.
|
|
<strong>Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.</strong>
|
|
Cell Rep. 10: 148-161, 2015.
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[PubMed: 25558065]
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[Full Text: https://doi.org/10.1016/j.celrep.2014.12.015]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Hong, Y., Ohishi, K., Watanabe, R., Endo, Y., Maeda, Y., Kinoshita, T.
|
|
<strong>GPI1 stabilizes an enzyme essential in the first step of glycosylphosphatidylinositol biosynthesis.</strong>
|
|
J. Biol. Chem. 274: 18582-18588, 1999.
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[PubMed: 10373468]
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[Full Text: https://doi.org/10.1074/jbc.274.26.18582]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Johnstone, D. L., Nguyen, T. T. M., Zambonin, J., Kernohan, K. D., St-Denis, A., Baratang, N. V., Hartley, T., Geraghty, M. T., Richer, J., Majewski, J., Bareke, E., Guerin, A., and 12 others.
|
|
<strong>Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: report of seven new subjects and review of the literature.</strong>
|
|
J. Inherit. Metab. Dis. 43: 1321-1332, 2020. Note: Erratum: J. Inherit. Metab. Dis. 46: 156 only, 2023.
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|
[PubMed: 32588908]
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[Full Text: https://doi.org/10.1002/jimd.12278]
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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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Martin, H. C., Kim, G. E., Pagnamenta, A. T., Murakami, Y., Carvill, G. L., Meyer, E., Copley, R. R., Rimmer, A., Barcia, G., Fleming, M. R., Kronengold, J., Brown, M. R., and 21 others.
|
|
<strong>Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.</strong>
|
|
Hum. Molec. Genet. 23: 3200-3211, 2014.
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[PubMed: 24463883]
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[Full Text: https://doi.org/10.1093/hmg/ddu030]
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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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Starr, L. J., Spranger, J. W., Rao, V. K., Lutz, R., Yetman, A. T.
|
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<strong>PIGQ glycosylphosphatidylinositol-anchored protein deficiency: characterizing the phenotype.</strong>
|
|
Am. J. Med. Genet. 179A: 1270-1275, 2019.
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[PubMed: 31148362]
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[Full Text: https://doi.org/10.1002/ajmg.a.61185]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Tiede, A., Schubert, J., Nischan, C., Jensen, I., Westfall, B., Taron, C. H., Orlean, P., Schmidt, R. E.
|
|
<strong>Human and mouse Gpi1p homologues restore glycosylphosphatidylinositol membrane anchor biosynthesis in yeast mutants.</strong>
|
|
Biochem. J. 334: 609-616, 1998.
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|
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|
|
|
[PubMed: 9729469]
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[Full Text: https://doi.org/10.1042/bj3340609]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Watanabe, R., Inoue, N., Westfall, B., Taron, C. H., Orlean, P., Takeda, J., Kinoshita, T.
|
|
<strong>The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1.</strong>
|
|
EMBO J. 17: 877-885, 1998.
|
|
|
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|
|
[PubMed: 9463366]
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|
[Full Text: https://doi.org/10.1093/emboj/17.4.877]
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</p>
|
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</li>
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</ol>
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<div>
|
|
<br />
|
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</div>
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</div>
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</div>
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<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Hilary J. Vernon - updated : 01/26/2021<br>Cassandra L. Kniffin - updated : 08/21/2019<br>Matthew B. Gross - updated : 01/10/2018<br>Cassandra L. Kniffin - updated : 7/15/2014
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
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<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Dawn Watkins-Chow : 3/22/2001
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
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</div>
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