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<title>
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Entry
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- *612757 - GLYCOSYLPHOSPHATIDYLINOSITOL-ANCHORED HIGH DENSITY LIPOPROTEIN-BINDING PROTEIN 1; GPIHBP1
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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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<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 class="row">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*612757</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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</li>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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</li>
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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="#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>
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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/612757">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=ENSG00000277494;t=ENST00000622500" 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=338328" 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=612757" 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=ENSG00000277494;t=ENST00000622500" 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_001301772,NM_178172" 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_178172" 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=612757" 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=17347&isoform_id=17347_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/GPIHBP1" 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/29650885,39795445,54887382,119602682,613410183,684179339,2203400744" 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/Q8IV16" 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=338328" 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=ENSG00000277494;t=ENST00000622500" 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=GPIHBP1" 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=GPIHBP1" 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+338328" 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/GPIHBP1" 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:338328" 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/338328" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr8&hgg_gene=ENST00000622500.2&hgg_start=143213218&hgg_end=143217170&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:24945" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=612757[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=612757[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/ENSG00000277494" 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=GPIHBP1" 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=GPIHBP1" 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=GPIHBP1" 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=GPIHBP1&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/PA162390135" 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:24945" 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://www.mousephenotype.org/data/genes/MGI:1915703" 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/GPIHBP1#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:1915703" 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/338328/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=338328" 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>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=GPIHBP1&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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612757
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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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GLYCOSYLPHOSPHATIDYLINOSITOL-ANCHORED HIGH DENSITY LIPOPROTEIN-BINDING PROTEIN 1; GPIHBP1
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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=GPIHBP1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">GPIHBP1</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/8/603?start=-3&limit=10&highlight=603">8q24.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr8:143213218-143217170&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">8:143,213,218-143,217,170</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/8/603?start=-3&limit=10&highlight=603">
|
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8q24.3
|
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</a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Hyperlipoproteinemia, type 1D
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
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<a href="/entry/615947"> 615947 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/612757" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/612757" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
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<p>Dietary fats are packaged by the intestine into triglyceride-rich lipoproteins called chylomicrons. The triglycerides in chylomicrons are hydrolyzed by lipoprotein lipase (LPL; <a href="/entry/609708">609708</a>) along the luminal surface of capillaries, mainly in heart, skeletal muscle, and adipose tissue. GPIHBP1 is a capillary endothelial cell protein that provides a platform for LPL-mediated processing of chylomicrons (<a href="#1" class="mim-tip-reference" title="Beigneux, A. P., Davies, B. S. J., Gin, P., Weinstein, M. M., Farber, E., Qiao, X., Peale, F., Bunting, S., Walzem, R. L., Wong, J. S., Blaner, W. S., Ding, Z.-M., Melford, K., Wongsiriroj, N., Shu, X., de Sauvage, F., Ryan, R. O., Fong, L. G., Bensadoun, A., Young, S. G. <strong>Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 plays a critical role in the lipolytic processing of chylomicrons.</strong> Cell Metab. 5: 279-291, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17403372/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17403372</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17403372[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.cmet.2007.02.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17403372">Beigneux et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17403372" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#10" class="mim-tip-reference" title="Ioka, R. X., Kang, M.-J., Kamiyama, S., Kim, D.-H., Magoori, K., Kamataki, A., Ito, Y., Takei, Y. A., Sasaki, M., Suzuki, T., Sasano, H., Takahashi, S., Sakai, J., Fujino, T., Yamamoto, T. T. <strong>Expression cloning and characterization of a novel glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein, GPI-HBP1.</strong> J. Biol. Chem. 278: 7344-7349, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12496272/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12496272</a>] [<a href="https://doi.org/10.1074/jbc.M211932200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12496272">Ioka et al. (2003)</a> cloned mouse Gpihbp1. The deduced 228-amino acid protein has an N-terminal signal sequence, followed by an acidic region with a cluster of aspartate and glutamate residues, an Ly6 (see <a href="/entry/606038">606038</a>) motif, and a C-terminal hydrophobic region that resembles a glycosylphosphatidylinositol (GPI) anchor. EST database analysis detected a possible Gpihbp1 splice variant encoding a C-terminally truncated protein that was predicted to be soluble. Northern blot analysis detected Gpihbp1 expression in mouse heart, with weaker expression in lung and liver. No expression was detected in brain, kidney, skeletal muscle, spleen, and testis. In situ hybridization detected Gpihbp1 in Kupffer cells and sinusoidal endothelium of liver, in cardiac muscle cells, and in bronchial epithelium and alveolar macrophages in lung. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12496272" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using Northern blot analysis, <a href="#1" class="mim-tip-reference" title="Beigneux, A. P., Davies, B. S. J., Gin, P., Weinstein, M. M., Farber, E., Qiao, X., Peale, F., Bunting, S., Walzem, R. L., Wong, J. S., Blaner, W. S., Ding, Z.-M., Melford, K., Wongsiriroj, N., Shu, X., de Sauvage, F., Ryan, R. O., Fong, L. G., Bensadoun, A., Young, S. G. <strong>Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 plays a critical role in the lipolytic processing of chylomicrons.</strong> Cell Metab. 5: 279-291, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17403372/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17403372</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17403372[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.cmet.2007.02.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17403372">Beigneux et al. (2007)</a> found that mouse Gpihbp1 was highly expressed in adipose tissue and heart. Immunofluorescence microscopy revealed that Gpihbp1 was expressed exclusively in endothelial cells. Confocal microscopy revealed Gpihbp1 on the luminal face of capillaries in brown adipose tissue and heart. No Gpihbp1 was detected in capillaries of brain, which relies on glucose uptake rather than lipoprotein hydrolysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17403372" 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 transfected Chinese hamster ovary (CHO) cells, <a href="#10" class="mim-tip-reference" title="Ioka, R. X., Kang, M.-J., Kamiyama, S., Kim, D.-H., Magoori, K., Kamataki, A., Ito, Y., Takei, Y. A., Sasaki, M., Suzuki, T., Sasano, H., Takahashi, S., Sakai, J., Fujino, T., Yamamoto, T. T. <strong>Expression cloning and characterization of a novel glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein, GPI-HBP1.</strong> J. Biol. Chem. 278: 7344-7349, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12496272/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12496272</a>] [<a href="https://doi.org/10.1074/jbc.M211932200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12496272">Ioka et al. (2003)</a> showed that mouse Gpihbp1 bound radiolabeled high density lipoprotein (HDL). Gpihbp1 selectively bound the lipid component of HDL, but not cholesterol or protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12496272" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Beigneux, A. P., Davies, B. S. J., Gin, P., Weinstein, M. M., Farber, E., Qiao, X., Peale, F., Bunting, S., Walzem, R. L., Wong, J. S., Blaner, W. S., Ding, Z.-M., Melford, K., Wongsiriroj, N., Shu, X., de Sauvage, F., Ryan, R. O., Fong, L. G., Bensadoun, A., Young, S. G. <strong>Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 plays a critical role in the lipolytic processing of chylomicrons.</strong> Cell Metab. 5: 279-291, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17403372/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17403372</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17403372[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.cmet.2007.02.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17403372">Beigneux et al. (2007)</a> showed that transfection of mouse Gpihbp1 in CHO cells conferred the ability to bind LPL and chylomicrons. Binding of LPL to Gpihbp1 was eliminated by heparin, which releases LPL from endothelial cells, and cell surface Gpihbp1 was released by phospholipase C (see PLCG1; <a href="/entry/172420">172420</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17403372" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using cells grown on transwells, <a href="#4" class="mim-tip-reference" title="Davies, B. S. J., Goulbourne, C. N., Barnes, R. H., II, Turlo, K. A., Gin, P., Vaughan, S., Vaux, D. J., Bensadoun, A., Beigneux, A. P., Fong, L. G., Young, S. G. <strong>Assessing mechanisms of GPIHBP1 and lipoprotein lipase movement across endothelial cells.</strong> J. Lipid Res. 53: 2690-2697, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23008484/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23008484</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23008484[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/10.1194/jlr.M031559" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23008484">Davies et al. (2012)</a> found that mouse Gpihbp1 could transport human LPL across rat heart endothelial cells in either the basolateral-to-apical direction or the apical-to-basolateral direction. Electron microscopy of rat and mouse cells revealed localization of Gpihbp1 and LPL in invaginations of the plasma membrane and in cytoplasmic vesicles. Inhibition of vesicular transport inhibited LPL internalization, whereas LPL internalization remained intact in mouse endothelial cells lacking caveolin-1 (CAV1; <a href="/entry/601047">601047</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23008484" 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="#9" class="mim-tip-reference" title="Hartz, P. A. <strong>Personal Communication.</strong> Baltimore, Md. 4/23/2009."None>Hartz (2009)</a> mapped the GPIHBP1 gene to chromosome 8q24.3 based on an alignment of the GPIHBP1 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AF088057" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AF088057</a>) with the genomic sequence (build 36.1).</p>
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<p><a href="#14" class="mim-tip-reference" title="Wang, J., Hegele, R. A. <strong>Homozygous missense mutation (G56R) in glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPI-HBP1) in two siblings with fasting chylomicronemia (MIM 144650).</strong> Lipids Health Dis. 6: 23, 2007. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17883852/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17883852</a>] [<a href="https://doi.org/10.1186/1476-511X-6-23" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17883852">Wang and Hegele (2007)</a> screened the coding regions of the GPIHBP1 gene in 160 unrelated adults with fasting chylomicronemia and plasma triglycerides greater than 10 mmol/L (<a href="/entry/615947">615947</a>), each of whom had normal sequence of the LPL (<a href="/entry/609708">609708</a>) and APOC2 (<a href="/entry/608083">608083</a>) genes, and identified 1 patient who was homozygous for a missense mutation (G56R; <a href="#0001">612757.0001</a>). Her affected brother was homozygous for the same mutation. Both sibs had recurrent pancreatitis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17883852" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Beigneux, A. P., Franssen, R., Bensadoun, A., Gin, P., Melford, K., Peter, J., Walzem, R. L., Weinstein, M. M., Davies, B. S. J., Kuivenhoven, J. A., Kastelein, J. J. P., Fong, L. G., Dallinga-Thie, G. M., Young, S. G. <strong>Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase.</strong> Arterioscler. Thromb. Vasc. Biol. 29: 956-962, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19304573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19304573</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19304573[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/10.1161/ATVBAHA.109.186577" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19304573">Beigneux et al. (2009)</a> screened 60 patients with chylomicronemia (plasma triglycerides, 4,464 +/- 3,366 mg/dL; postheparin plasma LPL mass and activity, 79.5 +/- 48.7 ng/mL and 59.9 +/- 63.9 mU/mL, respectively). The patients were identified within the Lipid Clinic of the Academic Medical Center Amsterdam. After excluding mutations in LPL, APOA5 (<a href="/entry/606368">606368</a>), and APOC2, <a href="#2" class="mim-tip-reference" title="Beigneux, A. P., Franssen, R., Bensadoun, A., Gin, P., Melford, K., Peter, J., Walzem, R. L., Weinstein, M. M., Davies, B. S. J., Kuivenhoven, J. A., Kastelein, J. J. P., Fong, L. G., Dallinga-Thie, G. M., Young, S. G. <strong>Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase.</strong> Arterioscler. Thromb. Vasc. Biol. 29: 956-962, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19304573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19304573</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19304573[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/10.1161/ATVBAHA.109.186577" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19304573">Beigneux et al. (2009)</a> amplified and sequenced the coding regions of GPIHBP1 and identified a homozygous missense mutation (Q115P; <a href="#0002">612757.0002</a>) in a 33-year-old male. The mutation did not affect the ability of GPIHBP1 to reach the cell surface, but it abrogated the ability to bind LPL or chylomicrons. Mouse Gpihbp1 with the corresponding mutation (Q114P) also could not bind Lpl. This mutation was subsequently reported in a second patient by <a href="#13" class="mim-tip-reference" title="Surendran, R. P., Visser, M. E., Heemelaar, S., Wang, J., Peter, J., Defesche, J. C., Kuivenhoven, J. A., Hosseini, M., Peterfy, M., Kastelein, J. J. P., Johansen, C. T., Hegele, R. A., Stroes, E. S. G., Dallinga-Thie, G. M. <strong>Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia.</strong> J. Intern. Med. 272: 185-196, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22239554/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22239554</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22239554[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/10.1111/j.1365-2796.2012.02516.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22239554">Surendran et al. (2012)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19304573+22239554" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Olivecrona, G., Ehrenborg, E., Semb, H., Makoveichuk, E., Lindberg, A., Hayden, M. R., Gin, P., Davies, B. S. J., Weinstein, M. M., Fong, L. G., Beigneux, A. P., Young, S. G., Olivecrona, T., Hernell, O. <strong>Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia.</strong> J. Lipid Res. 51: 1535-1545, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20026666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20026666</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20026666[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/10.1194/jlr.M002717" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20026666">Olivecrona et al. (2010)</a> reported a family in which 3 sibs with chylomicronemia were compound heterozygous for 2 missense mutations in GPIHBP1 (C65S, <a href="#0003">612757.0003</a> and C68G, <a href="#0004">612757.0004</a>). In transfection experiments in CHO cells, <a href="#11" class="mim-tip-reference" title="Olivecrona, G., Ehrenborg, E., Semb, H., Makoveichuk, E., Lindberg, A., Hayden, M. R., Gin, P., Davies, B. S. J., Weinstein, M. M., Fong, L. G., Beigneux, A. P., Young, S. G., Olivecrona, T., Hernell, O. <strong>Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia.</strong> J. Lipid Res. 51: 1535-1545, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20026666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20026666</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20026666[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/10.1194/jlr.M002717" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20026666">Olivecrona et al. (2010)</a> showed that GPIHBP1 carrying either of these mutations could reach the cell surface but could not bind LPL. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20026666" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Charriere, S., Peretti, N., Bernard, S., Di Filippo, M., Sassolas, A., Merlin, M., Delay, M., Debard, C., Lefai, E., Lachaux, A., Moulin, P., Marcais, C. <strong>GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia.</strong> J. Clin. Endocr. Metab. 96: E1675-E1679, 2011. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21816778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21816778</a>] [<a href="https://doi.org/10.1210/jc.2011-1444" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21816778">Charriere et al. (2011)</a> reported 2 probands with resistant hyperchylomicronemia, low LPL activity, and a history of acute pancreatitis who had mutations in the GPIHBP1 gene. One patient was homozygous for a G175R mutation (<a href="#0005">612757.0005</a>); the other patient had a C89F mutation (<a href="#0006">612757.0006</a>) on the paternal allele and a deletion of GPIHBP1 on the maternal allele (<a href="#0011">612757.0011</a>). The C89F mutation disrupts the C65-C89 disulfide bond and causes major alteration of LPL binding, confirming the critical importance of the C65-C89 disulfide bond in GPIHBP1 structure and function. The C89F mutation was associated with a C14F signal peptide polymorphism on the same haplotype, and the authors suggested that it might potentiate the effects of the C89F mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21816778" 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 whole-exome sequencing in a 5-week-old girl with severe hypertriglyceridemia, <a href="#7" class="mim-tip-reference" title="Gonzaga-Jauregui, C., Mir, S., Penney, S., Jhangiani, S., Midgen, C., Finegold, M., Muzny, D. M., Wang, M., Bacino, C. A., Gibbs, R. A., Lupski, J. R., Kellermayer, R., Hanchard, N. A. <strong>Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia.</strong> J. Pediat. Gastroent. Nutr. 59: 17-21, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24614124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24614124</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24614124[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/10.1097/MPG.0000000000000363" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24614124">Gonzaga-Jauregui et al. (2014)</a> identified compound heterozygous mutations in the GPIHBP1 gene: a missense mutation (T111P; <a href="#0007">612757.0007</a>) and a 17-bp deletion resulting in a frameshift (<a href="#0008">612757.0008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24614124" 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 with severe chylomicronemia, <a href="#5" class="mim-tip-reference" title="Franssen, R., Young, S. G., Peelman, F., Hertecant, J., Sierts, J. A., Schimmel, A. W. M., Bensadoun, A., Kastelein, J. J. P., Fong, L. G., Dallinga-Thie, G. M., Beigneux, A. P. <strong>Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects.</strong> Circ. Cardiovasc. Genet. 3: 169-178, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20124439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20124439</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20124439[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/10.1161/CIRCGENETICS.109.908905" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20124439">Franssen et al. (2010)</a> identified a homozygous missense mutation in the GPIHBP1 gene (C65Y; <a href="#0009">612757.0009</a>). Transfection experiments in CHO cells showed that the mutant protein could reach the cell surface but could not bind LPL. When the patient was given heparin, only trace amounts of LPL entered the plasma. The C65Y mutation was also reported in an independent patient by <a href="#13" class="mim-tip-reference" title="Surendran, R. P., Visser, M. E., Heemelaar, S., Wang, J., Peter, J., Defesche, J. C., Kuivenhoven, J. A., Hosseini, M., Peterfy, M., Kastelein, J. J. P., Johansen, C. T., Hegele, R. A., Stroes, E. S. G., Dallinga-Thie, G. M. <strong>Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia.</strong> J. Intern. Med. 272: 185-196, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22239554/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22239554</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22239554[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/10.1111/j.1365-2796.2012.02516.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22239554">Surendran et al. (2012)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20124439+22239554" 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 3 sibs with chylomicronemia, <a href="#12" class="mim-tip-reference" title="Plengpanich, W., Young, S. G., Khovidhunkit, W., Bensadoun, A., Karnman, H., Ploug, M., Gardsvoll, H., Leung, C. S., Adeyo, O., Larsson, M., Muanpetch, S., Charoen, S., Fong, L. G., Niramitmahapanya, S., Beigneux, A. P. <strong>Multimerization of glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) and familial chylomicronemia from a serine-to-cysteine substitution in GPIHBP1 Ly6 domain.</strong> J. Biol. Chem. 289: 19491-19499, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24847059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24847059</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24847059[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/10.1074/jbc.M114.558528" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24847059">Plengpanich et al. (2014)</a> identified homozygosity for a missense mutation in the GPIHBP1 gene (S107C; <a href="#0010">612757.0010</a>). This extra cysteine resulted in the formation of disulfide-linked dimers and multimers on the cell surface, whereas wildtype GPIHBP1 is predominantly monomeric. Multimeric GPIHBP1 was unable to bind LPL in either cell-based or cell-free binding assays. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24847059" 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="#1" class="mim-tip-reference" title="Beigneux, A. P., Davies, B. S. J., Gin, P., Weinstein, M. M., Farber, E., Qiao, X., Peale, F., Bunting, S., Walzem, R. L., Wong, J. S., Blaner, W. S., Ding, Z.-M., Melford, K., Wongsiriroj, N., Shu, X., de Sauvage, F., Ryan, R. O., Fong, L. G., Bensadoun, A., Young, S. G. <strong>Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 plays a critical role in the lipolytic processing of chylomicrons.</strong> Cell Metab. 5: 279-291, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17403372/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17403372</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17403372[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.cmet.2007.02.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17403372">Beigneux et al. (2007)</a> found that Gpihbp1 -/- mice had milky plasma with significantly increased triglyceride levels. Gpihbp1 -/- plasma showed a striking accumulation of chylomicrons, even when animals were fed a low-fat diet. Plasma triglyceride levels of Gpihbp1 +/- mice were indistinguishable from normal controls. <a href="#1" class="mim-tip-reference" title="Beigneux, A. P., Davies, B. S. J., Gin, P., Weinstein, M. M., Farber, E., Qiao, X., Peale, F., Bunting, S., Walzem, R. L., Wong, J. S., Blaner, W. S., Ding, Z.-M., Melford, K., Wongsiriroj, N., Shu, X., de Sauvage, F., Ryan, R. O., Fong, L. G., Bensadoun, A., Young, S. G. <strong>Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 plays a critical role in the lipolytic processing of chylomicrons.</strong> Cell Metab. 5: 279-291, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17403372/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17403372</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17403372[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.cmet.2007.02.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17403372">Beigneux et al. (2007)</a> concluded that GPIHBP1 plays a critical role in lipolytic processing of chylomicrons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17403372" 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>This variant is classified as a variant of unknown significance because its contribution to chylomicronemia has not been confirmed.</p><p>In a sister and brother with chylomicronemia and recurrent pancreatitis, <a href="#14" class="mim-tip-reference" title="Wang, J., Hegele, R. A. <strong>Homozygous missense mutation (G56R) in glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPI-HBP1) in two siblings with fasting chylomicronemia (MIM 144650).</strong> Lipids Health Dis. 6: 23, 2007. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17883852/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17883852</a>] [<a href="https://doi.org/10.1186/1476-511X-6-23" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17883852">Wang and Hegele (2007)</a> identified a homozygous mutation in the GPIHBP1 gene, resulting in a gly56-to-arg (G56R) substitution at a highly conserved residue. The brother also had early coronary heart disease. Three members of the family who were heterozygous for the mutation had fasting mild hypertriglyceridemia. The mutation was not found in 600 control subjects or in 610 patients with hyperlipidemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17883852" 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 functional studies, <a href="#6" class="mim-tip-reference" title="Gin, P., Beigneux, A. P., Davies, B., Young, M. F., Ryan, R. O., Bensadoun, A., Fong, L. G., Young, S. G. <strong>Normal binding of lipoprotein lipase, chylomicrons, and apo-AV to GPIHBP1 containing a G56R amino acid substitution.</strong> Biochem. Biophys. Acta 1771: 1464-1468, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17997385/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17997385</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17997385[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.bbalip.2007.10.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17997385">Gin et al. (2007)</a> demonstrated that both wildtype and mutant GPIHBP1-G56R localized at the cell surface and yielded signals of equal intensity. The G56R mutation had no discernible effect on the binding of lipoprotein lipase or chylomicrons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17997385" 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">rs587777637 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777637;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=rs587777637" 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=rs587777637" 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=RCV000133522" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000133522" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000133522</a>
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<p><a href="#2" class="mim-tip-reference" title="Beigneux, A. P., Franssen, R., Bensadoun, A., Gin, P., Melford, K., Peter, J., Walzem, R. L., Weinstein, M. M., Davies, B. S. J., Kuivenhoven, J. A., Kastelein, J. J. P., Fong, L. G., Dallinga-Thie, G. M., Young, S. G. <strong>Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase.</strong> Arterioscler. Thromb. Vasc. Biol. 29: 956-962, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19304573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19304573</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19304573[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/10.1161/ATVBAHA.109.186577" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19304573">Beigneux et al. (2009)</a> screened 60 patients with severe hypertriglyceridemia (<a href="/entry/615947">615947</a>) and plasma triglycerides above the 95th percentile for age and gender. They identified homozygosity for a c.344A-C transversion in exon 4 of the GPIHBP1 gene, resulting in a gln115-to-pro (Q115P) substitution in the most highly conserved segment of the Ly6 motif, in a 33-year-old man with type I hyperlipoproteinemia since childhood. The mutation completely abrogated the ability of GPIHBP1 to bind LPL. The same homozygous mutation was identified in 1 of 86 patients with severe hypertriglyceridemia screened by <a href="#13" class="mim-tip-reference" title="Surendran, R. P., Visser, M. E., Heemelaar, S., Wang, J., Peter, J., Defesche, J. C., Kuivenhoven, J. A., Hosseini, M., Peterfy, M., Kastelein, J. J. P., Johansen, C. T., Hegele, R. A., Stroes, E. S. G., Dallinga-Thie, G. M. <strong>Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia.</strong> J. Intern. Med. 272: 185-196, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22239554/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22239554</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22239554[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/10.1111/j.1365-2796.2012.02516.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22239554">Surendran et al. (2012)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19304573+22239554" 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> rs587777638 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777638;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/rs587777638?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=rs587777638" 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=rs587777638" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 3 Swedish sibs with severe chylomicronemia (<a href="/entry/615947">615947</a>), <a href="#11" class="mim-tip-reference" title="Olivecrona, G., Ehrenborg, E., Semb, H., Makoveichuk, E., Lindberg, A., Hayden, M. R., Gin, P., Davies, B. S. J., Weinstein, M. M., Fong, L. G., Beigneux, A. P., Young, S. G., Olivecrona, T., Hernell, O. <strong>Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia.</strong> J. Lipid Res. 51: 1535-1545, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20026666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20026666</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20026666[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/10.1194/jlr.M002717" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20026666">Olivecrona et al. (2010)</a> identified compound heterozygosity for mutations in exon 3 of the GPIHBP1 gene: a G-to-C transversion resulting in a cys65-to-ser (C65S) substitution, and a G-to-T transversion resulting in a cys68-to-gly (C68G; <a href="#0004">612757.0004</a>) substitution. Both mutations occurred in the highly conserved Ly6 domain. The asymptomatic and normolipemic parents were each heterozygous for one of the mutations, neither of which was found in 50 randomly selected healthy Swedish controls. The mutant GPIHBP1 proteins reached the surface of transfected CHO cells but were defective in their ability to bind LPL. <a href="#8" class="mim-tip-reference" title="Hamosh, A. <strong>Personal Communication.</strong> Baltimore, Md. 7/15/2014."None>Hamosh (2014)</a> noted that neither variant was detected in the Exome Variant Server database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20026666" 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> rs587777639 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777639;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/rs587777639?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=rs587777639" 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=rs587777639" 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 cys68-to-gly (C68G) mutation in the GPIHBP1 gene that was found in compound heterozygous state in sibs with severe chylomicronemia (<a href="/entry/615947">615947</a>) by <a href="#11" class="mim-tip-reference" title="Olivecrona, G., Ehrenborg, E., Semb, H., Makoveichuk, E., Lindberg, A., Hayden, M. R., Gin, P., Davies, B. S. J., Weinstein, M. M., Fong, L. G., Beigneux, A. P., Young, S. G., Olivecrona, T., Hernell, O. <strong>Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia.</strong> J. Lipid Res. 51: 1535-1545, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20026666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20026666</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20026666[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/10.1194/jlr.M002717" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20026666">Olivecrona et al. (2010)</a>, see <a href="#0003">612757.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20026666" 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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GPIHBP1, GLY175ARG (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs145844329;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs145844329</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> rs145844329 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs145844329;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/rs145844329?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=rs145844329" 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=rs145844329" 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=RCV000133525 OR RCV000948350 OR RCV003162597 OR RCV003415969" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000133525, RCV000948350, RCV003162597, RCV003415969" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000133525...</a>
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<p>In a 35-year-old man with severe chylomicronemia (<a href="/entry/615947">615947</a>), <a href="#3" class="mim-tip-reference" title="Charriere, S., Peretti, N., Bernard, S., Di Filippo, M., Sassolas, A., Merlin, M., Delay, M., Debard, C., Lefai, E., Lachaux, A., Moulin, P., Marcais, C. <strong>GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia.</strong> J. Clin. Endocr. Metab. 96: E1675-E1679, 2011. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21816778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21816778</a>] [<a href="https://doi.org/10.1210/jc.2011-1444" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21816778">Charriere et al. (2011)</a> identified homozygosity for a G-to-C substitution in exon 4 of the GPIHBP1 gene, resulting in a gly175-to-arg (G175R) substitution in the C-terminal domain of the protein. The mutation altered the transfer of GPIHBP1 at the cell surface and reduced the ability of GPIHBP1 to bind LPL to just above 50% of wildtype levels. The mutation was not found in 220 normolipemic controls. <a href="#8" class="mim-tip-reference" title="Hamosh, A. <strong>Personal Communication.</strong> Baltimore, Md. 7/15/2014."None>Hamosh (2014)</a> noted that the G175R mutation (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs145844329;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs145844329</a>), was seen with a frequency of 27 in 12,970 alleles in the Exome Variant Server database but was not seen in homozygosity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21816778" 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">rs587777640 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777640;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=rs587777640" 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=rs587777640" 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 with severe chylomicronemia (<a href="/entry/615947">615947</a>), <a href="#3" class="mim-tip-reference" title="Charriere, S., Peretti, N., Bernard, S., Di Filippo, M., Sassolas, A., Merlin, M., Delay, M., Debard, C., Lefai, E., Lachaux, A., Moulin, P., Marcais, C. <strong>GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia.</strong> J. Clin. Endocr. Metab. 96: E1675-E1679, 2011. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21816778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21816778</a>] [<a href="https://doi.org/10.1210/jc.2011-1444" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21816778">Charriere et al. (2011)</a> identified compound heterozygous mutations in the GPIHBP1 gene: a G-to-T change in exon 3 resulting in a cys89-to-phe (C89F) substitution in the Ly6 domain on the paternal allele, and a deletion of GPIHBP1 (<a href="#0011">612757.0011</a>) on the maternal allele. The C89F mutation was associated with a C14F (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs11538389;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs11538389</a>) substitution, which is a signal peptide polymorphism, on the same allele. In CHO cells, C14F reduced expression of GPIHBP1 at the cell surface, but the C89F mutation was responsible for a drastic LPL-binding defect to GPIHBP1. The authors suggested that the C14F polymorphism may potentiate the effect of C89F. The C89F substitution was not found in 220 normolipemic controls. <a href="#8" class="mim-tip-reference" title="Hamosh, A. <strong>Personal Communication.</strong> Baltimore, Md. 7/15/2014."None>Hamosh (2014)</a> noted that C14F was detected in homozygosity in approximately 1% of samples in the Exome Variant Server database; C89F was absent from the database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21816778" 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">rs587777641 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777641;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=rs587777641" 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=rs587777641" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>By whole-exome sequencing in a 5-week-old Hispanic girl with severe hypertriglyceridemia (<a href="/entry/615947">615947</a>), <a href="#7" class="mim-tip-reference" title="Gonzaga-Jauregui, C., Mir, S., Penney, S., Jhangiani, S., Midgen, C., Finegold, M., Muzny, D. M., Wang, M., Bacino, C. A., Gibbs, R. A., Lupski, J. R., Kellermayer, R., Hanchard, N. A. <strong>Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia.</strong> J. Pediat. Gastroent. Nutr. 59: 17-21, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24614124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24614124</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24614124[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/10.1097/MPG.0000000000000363" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24614124">Gonzaga-Jauregui et al. (2014)</a> identified compound heterozygous mutations in exon 4 of the GPIHBP1 gene: a c.331A-C transversion, resulting in a thr111-to-pro (T111P) substitution, and a 17-bp deletion (c.413_429del) resulting in a frameshift at val138 (<a href="#0008">612757.0008</a>). Both mutations occur in the Ly6 domain of the protein. <a href="#8" class="mim-tip-reference" title="Hamosh, A. <strong>Personal Communication.</strong> Baltimore, Md. 7/15/2014."None>Hamosh (2014)</a> noted that neither mutation was found in the Exome Variant Server database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24614124" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>For discussion of the 17-bp deletion (c.413_429del) in the GPIHBP1 gene that was found in compound heterozygous state in a patient with severe chylomicronemia (<a href="/entry/615947">615947</a>) by <a href="#7" class="mim-tip-reference" title="Gonzaga-Jauregui, C., Mir, S., Penney, S., Jhangiani, S., Midgen, C., Finegold, M., Muzny, D. M., Wang, M., Bacino, C. A., Gibbs, R. A., Lupski, J. R., Kellermayer, R., Hanchard, N. A. <strong>Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia.</strong> J. Pediat. Gastroent. Nutr. 59: 17-21, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24614124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24614124</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24614124[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/10.1097/MPG.0000000000000363" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24614124">Gonzaga-Jauregui et al. (2014)</a>, see <a href="#0007">612757.0007</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24614124" 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> rs587777638 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777638;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/rs587777638?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=rs587777638" 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=rs587777638" 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=RCV000133529 OR RCV004576921" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000133529, RCV004576921" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000133529...</a>
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<p>In a 3-year-old boy with chylomicronemia (<a href="/entry/615947">615947</a>), <a href="#5" class="mim-tip-reference" title="Franssen, R., Young, S. G., Peelman, F., Hertecant, J., Sierts, J. A., Schimmel, A. W. M., Bensadoun, A., Kastelein, J. J. P., Fong, L. G., Dallinga-Thie, G. M., Beigneux, A. P. <strong>Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects.</strong> Circ. Cardiovasc. Genet. 3: 169-178, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20124439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20124439</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20124439[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/10.1161/CIRCGENETICS.109.908905" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20124439">Franssen et al. (2010)</a> identified homozygosity for a 194G-A transition in exon 3 of the GPIHBP1 gene, resulting in a cys65-to-tyr (C65Y) substitution in the Ly6 domain of the protein. The mutant protein was able to reach the cell surface but could not bind to LPL. The same homozygous mutation was identified in an unrelated patient with chylomicronemia by <a href="#13" class="mim-tip-reference" title="Surendran, R. P., Visser, M. E., Heemelaar, S., Wang, J., Peter, J., Defesche, J. C., Kuivenhoven, J. A., Hosseini, M., Peterfy, M., Kastelein, J. J. P., Johansen, C. T., Hegele, R. A., Stroes, E. S. G., Dallinga-Thie, G. M. <strong>Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia.</strong> J. Intern. Med. 272: 185-196, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22239554/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22239554</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22239554[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/10.1111/j.1365-2796.2012.02516.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22239554">Surendran et al. (2012)</a>. <a href="#8" class="mim-tip-reference" title="Hamosh, A. <strong>Personal Communication.</strong> Baltimore, Md. 7/15/2014."None>Hamosh (2014)</a> noted that the C65Y mutation was not found in the Exome Variant Server database. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20124439+22239554" 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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GPIHBP1, SER107CYS
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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> rs587777643 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777643;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/rs587777643?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=rs587777643" 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=rs587777643" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000133530" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000133530" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000133530</a>
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<p>In 3 sibs with severe hypertriglyceridemia (<a href="/entry/615947">615947</a>), <a href="#12" class="mim-tip-reference" title="Plengpanich, W., Young, S. G., Khovidhunkit, W., Bensadoun, A., Karnman, H., Ploug, M., Gardsvoll, H., Leung, C. S., Adeyo, O., Larsson, M., Muanpetch, S., Charoen, S., Fong, L. G., Niramitmahapanya, S., Beigneux, A. P. <strong>Multimerization of glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) and familial chylomicronemia from a serine-to-cysteine substitution in GPIHBP1 Ly6 domain.</strong> J. Biol. Chem. 289: 19491-19499, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24847059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24847059</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24847059[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/10.1074/jbc.M114.558528" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24847059">Plengpanich et al. (2014)</a> identified homozygosity for a 320C-G transversion in the GPIHPB1 gene, resulting in a ser107-to-cys (S107C) substitution in the Ly6 domain of the protein. The mutation resulted in a gain of function and multimerization of GPIHBP1, precluding LPL binding. <a href="#8" class="mim-tip-reference" title="Hamosh, A. <strong>Personal Communication.</strong> Baltimore, Md. 7/15/2014."None>Hamosh (2014)</a> noted that the S107C mutation was not present in the Exome Variant Server database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24847059" 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 id="0011" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0011 HYPERLIPOPROTEINEMIA, TYPE ID</strong>
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</h4>
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GPIHBP1, DEL
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000133531" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000133531" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000133531</a>
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<p>For discussion of the deletion of GPIHBP1 that was found in compound heterozygous state in a patient with severe chylomicronemia (<a href="/entry/615947">615947</a>) by <a href="#3" class="mim-tip-reference" title="Charriere, S., Peretti, N., Bernard, S., Di Filippo, M., Sassolas, A., Merlin, M., Delay, M., Debard, C., Lefai, E., Lachaux, A., Moulin, P., Marcais, C. <strong>GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia.</strong> J. Clin. Endocr. Metab. 96: E1675-E1679, 2011. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21816778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21816778</a>] [<a href="https://doi.org/10.1210/jc.2011-1444" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21816778">Charriere et al. (2011)</a>, see <a href="#0006">612757.0006</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21816778" 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 id="references"class="mim-anchor"></a>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
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<ol>
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<a id="1" class="mim-anchor"></a>
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<a id="Beigneux2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Beigneux, A. P., Davies, B. S. J., Gin, P., Weinstein, M. M., Farber, E., Qiao, X., Peale, F., Bunting, S., Walzem, R. L., Wong, J. S., Blaner, W. S., Ding, Z.-M., Melford, K., Wongsiriroj, N., Shu, X., de Sauvage, F., Ryan, R. O., Fong, L. G., Bensadoun, A., Young, S. G.
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<strong>Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 plays a critical role in the lipolytic processing of chylomicrons.</strong>
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Cell Metab. 5: 279-291, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17403372/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17403372</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17403372[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=17403372" 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.cmet.2007.02.002" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
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<a id="Beigneux2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Beigneux, A. P., Franssen, R., Bensadoun, A., Gin, P., Melford, K., Peter, J., Walzem, R. L., Weinstein, M. M., Davies, B. S. J., Kuivenhoven, J. A., Kastelein, J. J. P., Fong, L. G., Dallinga-Thie, G. M., Young, S. G.
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<strong>Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase.</strong>
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Arterioscler. Thromb. Vasc. Biol. 29: 956-962, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19304573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19304573</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19304573[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=19304573" 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/10.1161/ATVBAHA.109.186577" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="Charriere2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Charriere, S., Peretti, N., Bernard, S., Di Filippo, M., Sassolas, A., Merlin, M., Delay, M., Debard, C., Lefai, E., Lachaux, A., Moulin, P., Marcais, C.
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<strong>GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia.</strong>
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J. Clin. Endocr. Metab. 96: E1675-E1679, 2011. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21816778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21816778</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21816778" 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/10.1210/jc.2011-1444" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
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<a id="Davies2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Davies, B. S. J., Goulbourne, C. N., Barnes, R. H., II, Turlo, K. A., Gin, P., Vaughan, S., Vaux, D. J., Bensadoun, A., Beigneux, A. P., Fong, L. G., Young, S. G.
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<strong>Assessing mechanisms of GPIHBP1 and lipoprotein lipase movement across endothelial cells.</strong>
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J. Lipid Res. 53: 2690-2697, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23008484/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23008484</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23008484[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=23008484" 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/10.1194/jlr.M031559" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Franssen2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Franssen, R., Young, S. G., Peelman, F., Hertecant, J., Sierts, J. A., Schimmel, A. W. M., Bensadoun, A., Kastelein, J. J. P., Fong, L. G., Dallinga-Thie, G. M., Beigneux, A. P.
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<strong>Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects.</strong>
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Circ. Cardiovasc. Genet. 3: 169-178, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20124439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20124439</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20124439[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=20124439" 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/10.1161/CIRCGENETICS.109.908905" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Gin2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Gin, P., Beigneux, A. P., Davies, B., Young, M. F., Ryan, R. O., Bensadoun, A., Fong, L. G., Young, S. G.
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<strong>Normal binding of lipoprotein lipase, chylomicrons, and apo-AV to GPIHBP1 containing a G56R amino acid substitution.</strong>
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Biochem. Biophys. Acta 1771: 1464-1468, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17997385/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17997385</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17997385[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=17997385" 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.bbalip.2007.10.005" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Gonzaga-Jauregui2014" class="mim-anchor"></a>
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<div class="">
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Gonzaga-Jauregui, C., Mir, S., Penney, S., Jhangiani, S., Midgen, C., Finegold, M., Muzny, D. M., Wang, M., Bacino, C. A., Gibbs, R. A., Lupski, J. R., Kellermayer, R., Hanchard, N. A.
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<strong>Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia.</strong>
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J. Pediat. Gastroent. Nutr. 59: 17-21, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24614124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24614124</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24614124[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=24614124" 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/10.1097/MPG.0000000000000363" target="_blank">Full Text</a>]
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<a id="Hamosh2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hamosh, A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 7/15/2014.
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<a id="Hartz2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hartz, P. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 4/23/2009.
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<a id="Ioka2003" class="mim-anchor"></a>
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<p class="mim-text-font">
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Ioka, R. X., Kang, M.-J., Kamiyama, S., Kim, D.-H., Magoori, K., Kamataki, A., Ito, Y., Takei, Y. A., Sasaki, M., Suzuki, T., Sasano, H., Takahashi, S., Sakai, J., Fujino, T., Yamamoto, T. T.
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<strong>Expression cloning and characterization of a novel glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein, GPI-HBP1.</strong>
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J. Biol. Chem. 278: 7344-7349, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12496272/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12496272</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12496272" 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.M211932200" target="_blank">Full Text</a>]
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<a id="11" class="mim-anchor"></a>
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<a id="Olivecrona2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Olivecrona, G., Ehrenborg, E., Semb, H., Makoveichuk, E., Lindberg, A., Hayden, M. R., Gin, P., Davies, B. S. J., Weinstein, M. M., Fong, L. G., Beigneux, A. P., Young, S. G., Olivecrona, T., Hernell, O.
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<strong>Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia.</strong>
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J. Lipid Res. 51: 1535-1545, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20026666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20026666</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20026666[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=20026666" 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/10.1194/jlr.M002717" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Plengpanich2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Plengpanich, W., Young, S. G., Khovidhunkit, W., Bensadoun, A., Karnman, H., Ploug, M., Gardsvoll, H., Leung, C. S., Adeyo, O., Larsson, M., Muanpetch, S., Charoen, S., Fong, L. G., Niramitmahapanya, S., Beigneux, A. P.
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<strong>Multimerization of glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) and familial chylomicronemia from a serine-to-cysteine substitution in GPIHBP1 Ly6 domain.</strong>
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J. Biol. Chem. 289: 19491-19499, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24847059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24847059</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24847059[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=24847059" 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.M114.558528" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Surendran2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Surendran, R. P., Visser, M. E., Heemelaar, S., Wang, J., Peter, J., Defesche, J. C., Kuivenhoven, J. A., Hosseini, M., Peterfy, M., Kastelein, J. J. P., Johansen, C. T., Hegele, R. A., Stroes, E. S. G., Dallinga-Thie, G. M.
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<strong>Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia.</strong>
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J. Intern. Med. 272: 185-196, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22239554/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22239554</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22239554[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=22239554" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1365-2796.2012.02516.x" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Wang2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wang, J., Hegele, R. A.
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<strong>Homozygous missense mutation (G56R) in glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPI-HBP1) in two siblings with fasting chylomicronemia (MIM 144650).</strong>
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Lipids Health Dis. 6: 23, 2007. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17883852/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17883852</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17883852" 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/10.1186/1476-511X-6-23" target="_blank">Full Text</a>]
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</p>
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</ol>
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<br />
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</div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 8/20/2014
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 1/31/2014
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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="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 4/23/2009
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</span>
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</div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 01/11/2022
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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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mcolton : 07/30/2015<br>carol : 9/4/2014<br>carol : 8/25/2014<br>joanna : 8/22/2014<br>joanna : 8/22/2014<br>carol : 8/21/2014<br>carol : 8/20/2014<br>mgross : 1/31/2014<br>mgross : 1/31/2014<br>mcolton : 1/31/2014<br>mgross : 4/24/2009<br>mgross : 4/23/2009
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</span>
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<div class="container visible-print-block">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 612757
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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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GLYCOSYLPHOSPHATIDYLINOSITOL-ANCHORED HIGH DENSITY LIPOPROTEIN-BINDING PROTEIN 1; GPIHBP1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: GPIHBP1</em></strong>
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</span>
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</p>
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</div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 8q24.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 8:143,213,218-143,217,170 </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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<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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8q24.3
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</span>
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</td>
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<td>
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<span class="mim-font">
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Hyperlipoproteinemia, type 1D
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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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615947
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Dietary fats are packaged by the intestine into triglyceride-rich lipoproteins called chylomicrons. The triglycerides in chylomicrons are hydrolyzed by lipoprotein lipase (LPL; 609708) along the luminal surface of capillaries, mainly in heart, skeletal muscle, and adipose tissue. GPIHBP1 is a capillary endothelial cell protein that provides a platform for LPL-mediated processing of chylomicrons (Beigneux et al., 2007). </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>Ioka et al. (2003) cloned mouse Gpihbp1. The deduced 228-amino acid protein has an N-terminal signal sequence, followed by an acidic region with a cluster of aspartate and glutamate residues, an Ly6 (see 606038) motif, and a C-terminal hydrophobic region that resembles a glycosylphosphatidylinositol (GPI) anchor. EST database analysis detected a possible Gpihbp1 splice variant encoding a C-terminally truncated protein that was predicted to be soluble. Northern blot analysis detected Gpihbp1 expression in mouse heart, with weaker expression in lung and liver. No expression was detected in brain, kidney, skeletal muscle, spleen, and testis. In situ hybridization detected Gpihbp1 in Kupffer cells and sinusoidal endothelium of liver, in cardiac muscle cells, and in bronchial epithelium and alveolar macrophages in lung. </p><p>Using Northern blot analysis, Beigneux et al. (2007) found that mouse Gpihbp1 was highly expressed in adipose tissue and heart. Immunofluorescence microscopy revealed that Gpihbp1 was expressed exclusively in endothelial cells. Confocal microscopy revealed Gpihbp1 on the luminal face of capillaries in brown adipose tissue and heart. No Gpihbp1 was detected in capillaries of brain, which relies on glucose uptake rather than lipoprotein hydrolysis. </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 transfected Chinese hamster ovary (CHO) cells, Ioka et al. (2003) showed that mouse Gpihbp1 bound radiolabeled high density lipoprotein (HDL). Gpihbp1 selectively bound the lipid component of HDL, but not cholesterol or protein. </p><p>Beigneux et al. (2007) showed that transfection of mouse Gpihbp1 in CHO cells conferred the ability to bind LPL and chylomicrons. Binding of LPL to Gpihbp1 was eliminated by heparin, which releases LPL from endothelial cells, and cell surface Gpihbp1 was released by phospholipase C (see PLCG1; 172420). </p><p>Using cells grown on transwells, Davies et al. (2012) found that mouse Gpihbp1 could transport human LPL across rat heart endothelial cells in either the basolateral-to-apical direction or the apical-to-basolateral direction. Electron microscopy of rat and mouse cells revealed localization of Gpihbp1 and LPL in invaginations of the plasma membrane and in cytoplasmic vesicles. Inhibition of vesicular transport inhibited LPL internalization, whereas LPL internalization remained intact in mouse endothelial cells lacking caveolin-1 (CAV1; 601047). </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>Hartz (2009) mapped the GPIHBP1 gene to chromosome 8q24.3 based on an alignment of the GPIHBP1 sequence (GenBank AF088057) with the genomic sequence (build 36.1).</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>Wang and Hegele (2007) screened the coding regions of the GPIHBP1 gene in 160 unrelated adults with fasting chylomicronemia and plasma triglycerides greater than 10 mmol/L (615947), each of whom had normal sequence of the LPL (609708) and APOC2 (608083) genes, and identified 1 patient who was homozygous for a missense mutation (G56R; 612757.0001). Her affected brother was homozygous for the same mutation. Both sibs had recurrent pancreatitis. </p><p>Beigneux et al. (2009) screened 60 patients with chylomicronemia (plasma triglycerides, 4,464 +/- 3,366 mg/dL; postheparin plasma LPL mass and activity, 79.5 +/- 48.7 ng/mL and 59.9 +/- 63.9 mU/mL, respectively). The patients were identified within the Lipid Clinic of the Academic Medical Center Amsterdam. After excluding mutations in LPL, APOA5 (606368), and APOC2, Beigneux et al. (2009) amplified and sequenced the coding regions of GPIHBP1 and identified a homozygous missense mutation (Q115P; 612757.0002) in a 33-year-old male. The mutation did not affect the ability of GPIHBP1 to reach the cell surface, but it abrogated the ability to bind LPL or chylomicrons. Mouse Gpihbp1 with the corresponding mutation (Q114P) also could not bind Lpl. This mutation was subsequently reported in a second patient by Surendran et al. (2012). </p><p>Olivecrona et al. (2010) reported a family in which 3 sibs with chylomicronemia were compound heterozygous for 2 missense mutations in GPIHBP1 (C65S, 612757.0003 and C68G, 612757.0004). In transfection experiments in CHO cells, Olivecrona et al. (2010) showed that GPIHBP1 carrying either of these mutations could reach the cell surface but could not bind LPL. </p><p>Charriere et al. (2011) reported 2 probands with resistant hyperchylomicronemia, low LPL activity, and a history of acute pancreatitis who had mutations in the GPIHBP1 gene. One patient was homozygous for a G175R mutation (612757.0005); the other patient had a C89F mutation (612757.0006) on the paternal allele and a deletion of GPIHBP1 on the maternal allele (612757.0011). The C89F mutation disrupts the C65-C89 disulfide bond and causes major alteration of LPL binding, confirming the critical importance of the C65-C89 disulfide bond in GPIHBP1 structure and function. The C89F mutation was associated with a C14F signal peptide polymorphism on the same haplotype, and the authors suggested that it might potentiate the effects of the C89F mutation. </p><p>By whole-exome sequencing in a 5-week-old girl with severe hypertriglyceridemia, Gonzaga-Jauregui et al. (2014) identified compound heterozygous mutations in the GPIHBP1 gene: a missense mutation (T111P; 612757.0007) and a 17-bp deletion resulting in a frameshift (612757.0008). </p><p>In a patient with severe chylomicronemia, Franssen et al. (2010) identified a homozygous missense mutation in the GPIHBP1 gene (C65Y; 612757.0009). Transfection experiments in CHO cells showed that the mutant protein could reach the cell surface but could not bind LPL. When the patient was given heparin, only trace amounts of LPL entered the plasma. The C65Y mutation was also reported in an independent patient by Surendran et al. (2012). </p><p>In 3 sibs with chylomicronemia, Plengpanich et al. (2014) identified homozygosity for a missense mutation in the GPIHBP1 gene (S107C; 612757.0010). This extra cysteine resulted in the formation of disulfide-linked dimers and multimers on the cell surface, whereas wildtype GPIHBP1 is predominantly monomeric. Multimeric GPIHBP1 was unable to bind LPL in either cell-based or cell-free binding assays. </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>Beigneux et al. (2007) found that Gpihbp1 -/- mice had milky plasma with significantly increased triglyceride levels. Gpihbp1 -/- plasma showed a striking accumulation of chylomicrons, even when animals were fed a low-fat diet. Plasma triglyceride levels of Gpihbp1 +/- mice were indistinguishable from normal controls. Beigneux et al. (2007) concluded that GPIHBP1 plays a critical role in lipolytic processing of chylomicrons. </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>11 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 VARIANT OF UNKNOWN SIGNIFICANCE</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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GPIHBP1, GLY56ARG
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<br />
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SNP: rs587777636,
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gnomAD: rs587777636,
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ClinVar: RCV000133521
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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>This variant is classified as a variant of unknown significance because its contribution to chylomicronemia has not been confirmed.</p><p>In a sister and brother with chylomicronemia and recurrent pancreatitis, Wang and Hegele (2007) identified a homozygous mutation in the GPIHBP1 gene, resulting in a gly56-to-arg (G56R) substitution at a highly conserved residue. The brother also had early coronary heart disease. Three members of the family who were heterozygous for the mutation had fasting mild hypertriglyceridemia. The mutation was not found in 600 control subjects or in 610 patients with hyperlipidemia. </p><p>In functional studies, Gin et al. (2007) demonstrated that both wildtype and mutant GPIHBP1-G56R localized at the cell surface and yielded signals of equal intensity. The G56R mutation had no discernible effect on the binding of lipoprotein lipase or chylomicrons. </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 HYPERLIPOPROTEINEMIA, TYPE ID</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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GPIHBP1, GLN115PRO
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<br />
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SNP: rs587777637,
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ClinVar: RCV000133522
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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>Beigneux et al. (2009) screened 60 patients with severe hypertriglyceridemia (615947) and plasma triglycerides above the 95th percentile for age and gender. They identified homozygosity for a c.344A-C transversion in exon 4 of the GPIHBP1 gene, resulting in a gln115-to-pro (Q115P) substitution in the most highly conserved segment of the Ly6 motif, in a 33-year-old man with type I hyperlipoproteinemia since childhood. The mutation completely abrogated the ability of GPIHBP1 to bind LPL. The same homozygous mutation was identified in 1 of 86 patients with severe hypertriglyceridemia screened by Surendran et al. (2012). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 HYPERLIPOPROTEINEMIA, TYPE ID</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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GPIHBP1, CYS65SER
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<br />
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SNP: rs587777638,
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gnomAD: rs587777638,
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ClinVar: RCV000133523
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 3 Swedish sibs with severe chylomicronemia (615947), Olivecrona et al. (2010) identified compound heterozygosity for mutations in exon 3 of the GPIHBP1 gene: a G-to-C transversion resulting in a cys65-to-ser (C65S) substitution, and a G-to-T transversion resulting in a cys68-to-gly (C68G; 612757.0004) substitution. Both mutations occurred in the highly conserved Ly6 domain. The asymptomatic and normolipemic parents were each heterozygous for one of the mutations, neither of which was found in 50 randomly selected healthy Swedish controls. The mutant GPIHBP1 proteins reached the surface of transfected CHO cells but were defective in their ability to bind LPL. Hamosh (2014) noted that neither variant was detected in the Exome Variant Server database. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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|
<strong>.0004 HYPERLIPOPROTEINEMIA, TYPE ID</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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GPIHBP1, CYS68GLY
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<br />
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SNP: rs587777639,
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gnomAD: rs587777639,
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ClinVar: RCV000133524
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>For discussion of the cys68-to-gly (C68G) mutation in the GPIHBP1 gene that was found in compound heterozygous state in sibs with severe chylomicronemia (615947) by Olivecrona et al. (2010), see 612757.0003. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0005 HYPERLIPOPROTEINEMIA, TYPE ID</strong>
|
|
</span>
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</h4>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
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|
|
GPIHBP1, GLY175ARG ({dbSNP rs145844329})
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<br />
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|
|
SNP: rs145844329,
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|
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gnomAD: rs145844329,
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|
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ClinVar: RCV000133525, RCV000948350, RCV003162597, RCV003415969
|
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|
|
</span>
|
|
</div>
|
|
|
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 35-year-old man with severe chylomicronemia (615947), Charriere et al. (2011) identified homozygosity for a G-to-C substitution in exon 4 of the GPIHBP1 gene, resulting in a gly175-to-arg (G175R) substitution in the C-terminal domain of the protein. The mutation altered the transfer of GPIHBP1 at the cell surface and reduced the ability of GPIHBP1 to bind LPL to just above 50% of wildtype levels. The mutation was not found in 220 normolipemic controls. Hamosh (2014) noted that the G175R mutation (rs145844329), was seen with a frequency of 27 in 12,970 alleles in the Exome Variant Server database but was not seen in homozygosity. </p>
|
|
</span>
|
|
</div>
|
|
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|
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 HYPERLIPOPROTEINEMIA, TYPE ID</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
GPIHBP1, CYS89PHE
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|
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|
|
|
<br />
|
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|
|
SNP: rs587777640,
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|
|
|
|
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|
|
ClinVar: RCV000133526
|
|
|
|
|
|
</span>
|
|
</div>
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a child with severe chylomicronemia (615947), Charriere et al. (2011) identified compound heterozygous mutations in the GPIHBP1 gene: a G-to-T change in exon 3 resulting in a cys89-to-phe (C89F) substitution in the Ly6 domain on the paternal allele, and a deletion of GPIHBP1 (612757.0011) on the maternal allele. The C89F mutation was associated with a C14F (rs11538389) substitution, which is a signal peptide polymorphism, on the same allele. In CHO cells, C14F reduced expression of GPIHBP1 at the cell surface, but the C89F mutation was responsible for a drastic LPL-binding defect to GPIHBP1. The authors suggested that the C14F polymorphism may potentiate the effect of C89F. The C89F substitution was not found in 220 normolipemic controls. Hamosh (2014) noted that C14F was detected in homozygosity in approximately 1% of samples in the Exome Variant Server database; C89F was absent from the database. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
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</div>
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</div>
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<div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 HYPERLIPOPROTEINEMIA, TYPE ID</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
GPIHBP1, THR111PRO
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|
|
|
<br />
|
|
|
|
SNP: rs587777641,
|
|
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|
|
|
|
|
ClinVar: RCV000133527
|
|
|
|
|
|
</span>
|
|
</div>
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|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>By whole-exome sequencing in a 5-week-old Hispanic girl with severe hypertriglyceridemia (615947), Gonzaga-Jauregui et al. (2014) identified compound heterozygous mutations in exon 4 of the GPIHBP1 gene: a c.331A-C transversion, resulting in a thr111-to-pro (T111P) substitution, and a 17-bp deletion (c.413_429del) resulting in a frameshift at val138 (612757.0008). Both mutations occur in the Ly6 domain of the protein. Hamosh (2014) noted that neither mutation was found in the Exome Variant Server database. </p>
|
|
</span>
|
|
</div>
|
|
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|
|
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|
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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<div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 HYPERLIPOPROTEINEMIA, TYPE ID</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
GPIHBP1, 17-BP DEL, NT413
|
|
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|
|
|
<br />
|
|
|
|
SNP: rs587777642,
|
|
|
|
|
|
|
|
ClinVar: RCV000133528
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 17-bp deletion (c.413_429del) in the GPIHBP1 gene that was found in compound heterozygous state in a patient with severe chylomicronemia (615947) by Gonzaga-Jauregui et al. (2014), see 612757.0007. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 HYPERLIPOPROTEINEMIA, TYPE ID</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
GPIHBP1, CYS65TYR
|
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|
|
<br />
|
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|
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SNP: rs587777638,
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|
|
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gnomAD: rs587777638,
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|
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|
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ClinVar: RCV000133529, RCV004576921
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|
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</span>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 3-year-old boy with chylomicronemia (615947), Franssen et al. (2010) identified homozygosity for a 194G-A transition in exon 3 of the GPIHBP1 gene, resulting in a cys65-to-tyr (C65Y) substitution in the Ly6 domain of the protein. The mutant protein was able to reach the cell surface but could not bind to LPL. The same homozygous mutation was identified in an unrelated patient with chylomicronemia by Surendran et al. (2012). Hamosh (2014) noted that the C65Y mutation was not found in the Exome Variant Server database. </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>
|
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<span class="mim-font">
|
|
<strong>.0010 HYPERLIPOPROTEINEMIA, TYPE ID</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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GPIHBP1, SER107CYS
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<br />
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|
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SNP: rs587777643,
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|
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gnomAD: rs587777643,
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ClinVar: RCV000133530
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 sibs with severe hypertriglyceridemia (615947), Plengpanich et al. (2014) identified homozygosity for a 320C-G transversion in the GPIHPB1 gene, resulting in a ser107-to-cys (S107C) substitution in the Ly6 domain of the protein. The mutation resulted in a gain of function and multimerization of GPIHBP1, precluding LPL binding. Hamosh (2014) noted that the S107C mutation was not present in the Exome Variant Server database. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
|
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 HYPERLIPOPROTEINEMIA, TYPE ID</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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GPIHBP1, DEL
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<br />
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|
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ClinVar: RCV000133531
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</span>
|
|
</div>
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<p>For discussion of the deletion of GPIHBP1 that was found in compound heterozygous state in a patient with severe chylomicronemia (615947) by Charriere et al. (2011), see 612757.0006. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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</div>
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<ol>
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Beigneux, A. P., Davies, B. S. J., Gin, P., Weinstein, M. M., Farber, E., Qiao, X., Peale, F., Bunting, S., Walzem, R. L., Wong, J. S., Blaner, W. S., Ding, Z.-M., Melford, K., Wongsiriroj, N., Shu, X., de Sauvage, F., Ryan, R. O., Fong, L. G., Bensadoun, A., Young, S. G.
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<strong>Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 plays a critical role in the lipolytic processing of chylomicrons.</strong>
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Cell Metab. 5: 279-291, 2007.
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[PubMed: 17403372]
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[Full Text: https://doi.org/10.1016/j.cmet.2007.02.002]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Beigneux, A. P., Franssen, R., Bensadoun, A., Gin, P., Melford, K., Peter, J., Walzem, R. L., Weinstein, M. M., Davies, B. S. J., Kuivenhoven, J. A., Kastelein, J. J. P., Fong, L. G., Dallinga-Thie, G. M., Young, S. G.
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<strong>Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase.</strong>
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Arterioscler. Thromb. Vasc. Biol. 29: 956-962, 2009.
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[PubMed: 19304573]
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[Full Text: https://doi.org/10.1161/ATVBAHA.109.186577]
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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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Charriere, S., Peretti, N., Bernard, S., Di Filippo, M., Sassolas, A., Merlin, M., Delay, M., Debard, C., Lefai, E., Lachaux, A., Moulin, P., Marcais, C.
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<strong>GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia.</strong>
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J. Clin. Endocr. Metab. 96: E1675-E1679, 2011. Note: Electronic Article.
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[PubMed: 21816778]
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[Full Text: https://doi.org/10.1210/jc.2011-1444]
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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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Davies, B. S. J., Goulbourne, C. N., Barnes, R. H., II, Turlo, K. A., Gin, P., Vaughan, S., Vaux, D. J., Bensadoun, A., Beigneux, A. P., Fong, L. G., Young, S. G.
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<strong>Assessing mechanisms of GPIHBP1 and lipoprotein lipase movement across endothelial cells.</strong>
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J. Lipid Res. 53: 2690-2697, 2012.
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[PubMed: 23008484]
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[Full Text: https://doi.org/10.1194/jlr.M031559]
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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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Franssen, R., Young, S. G., Peelman, F., Hertecant, J., Sierts, J. A., Schimmel, A. W. M., Bensadoun, A., Kastelein, J. J. P., Fong, L. G., Dallinga-Thie, G. M., Beigneux, A. P.
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<strong>Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects.</strong>
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Circ. Cardiovasc. Genet. 3: 169-178, 2010.
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[PubMed: 20124439]
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[Full Text: https://doi.org/10.1161/CIRCGENETICS.109.908905]
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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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Gin, P., Beigneux, A. P., Davies, B., Young, M. F., Ryan, R. O., Bensadoun, A., Fong, L. G., Young, S. G.
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<strong>Normal binding of lipoprotein lipase, chylomicrons, and apo-AV to GPIHBP1 containing a G56R amino acid substitution.</strong>
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Biochem. Biophys. Acta 1771: 1464-1468, 2007.
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[PubMed: 17997385]
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[Full Text: https://doi.org/10.1016/j.bbalip.2007.10.005]
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Gonzaga-Jauregui, C., Mir, S., Penney, S., Jhangiani, S., Midgen, C., Finegold, M., Muzny, D. M., Wang, M., Bacino, C. A., Gibbs, R. A., Lupski, J. R., Kellermayer, R., Hanchard, N. A.
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<strong>Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia.</strong>
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J. Pediat. Gastroent. Nutr. 59: 17-21, 2014.
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[PubMed: 24614124]
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[Full Text: https://doi.org/10.1097/MPG.0000000000000363]
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<li>
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<p class="mim-text-font">
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Hamosh, A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 7/15/2014.
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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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Hartz, P. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 4/23/2009.
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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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Ioka, R. X., Kang, M.-J., Kamiyama, S., Kim, D.-H., Magoori, K., Kamataki, A., Ito, Y., Takei, Y. A., Sasaki, M., Suzuki, T., Sasano, H., Takahashi, S., Sakai, J., Fujino, T., Yamamoto, T. T.
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<strong>Expression cloning and characterization of a novel glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein, GPI-HBP1.</strong>
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J. Biol. Chem. 278: 7344-7349, 2003.
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[PubMed: 12496272]
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[Full Text: https://doi.org/10.1074/jbc.M211932200]
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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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Olivecrona, G., Ehrenborg, E., Semb, H., Makoveichuk, E., Lindberg, A., Hayden, M. R., Gin, P., Davies, B. S. J., Weinstein, M. M., Fong, L. G., Beigneux, A. P., Young, S. G., Olivecrona, T., Hernell, O.
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<strong>Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia.</strong>
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J. Lipid Res. 51: 1535-1545, 2010.
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[PubMed: 20026666]
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[Full Text: https://doi.org/10.1194/jlr.M002717]
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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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Plengpanich, W., Young, S. G., Khovidhunkit, W., Bensadoun, A., Karnman, H., Ploug, M., Gardsvoll, H., Leung, C. S., Adeyo, O., Larsson, M., Muanpetch, S., Charoen, S., Fong, L. G., Niramitmahapanya, S., Beigneux, A. P.
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<strong>Multimerization of glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) and familial chylomicronemia from a serine-to-cysteine substitution in GPIHBP1 Ly6 domain.</strong>
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J. Biol. Chem. 289: 19491-19499, 2014.
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[PubMed: 24847059]
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[Full Text: https://doi.org/10.1074/jbc.M114.558528]
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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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Surendran, R. P., Visser, M. E., Heemelaar, S., Wang, J., Peter, J., Defesche, J. C., Kuivenhoven, J. A., Hosseini, M., Peterfy, M., Kastelein, J. J. P., Johansen, C. T., Hegele, R. A., Stroes, E. S. G., Dallinga-Thie, G. M.
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<strong>Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia.</strong>
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J. Intern. Med. 272: 185-196, 2012.
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[PubMed: 22239554]
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[Full Text: https://doi.org/10.1111/j.1365-2796.2012.02516.x]
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</p>
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<li>
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<p class="mim-text-font">
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Wang, J., Hegele, R. A.
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<strong>Homozygous missense mutation (G56R) in glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPI-HBP1) in two siblings with fasting chylomicronemia (MIM 144650).</strong>
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Lipids Health Dis. 6: 23, 2007. Note: Electronic Article.
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[PubMed: 17883852]
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[Full Text: https://doi.org/10.1186/1476-511X-6-23]
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Ada Hamosh - updated : 8/20/2014<br>Patricia A. Hartz - updated : 1/31/2014
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