3782 lines
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Entry
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- *603100 - 1-ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 2; AGPAT2
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- OMIM
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<p>
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<span class="h4">*603100</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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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</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 role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/603100">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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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=ENSG00000169692;t=ENST00000371696" 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=10555" 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=603100" 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=ENSG00000169692;t=ENST00000371696" 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_001012727,NM_006412,XM_047422636" 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_006412" 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=603100" 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=04373&isoform_id=04373_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/AGPAT2" 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/2282590,2286207,3914362,6041665,12652569,13528651,13929447,13938283,17939648,69122971,119608655,119608656,119608657,119608658,332367726,2217375122" 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/O15120" 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=10555" 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=ENSG00000169692;t=ENST00000371696" 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=AGPAT2" 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=AGPAT2" 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+10555" 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/AGPAT2" 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:10555" 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/10555" 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=chr9&hgg_gene=ENST00000371696.7&hgg_start=136673143&hgg_end=136687457&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:325" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:325" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/agpat2" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=603100[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=603100[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/ENSG00000169692" 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=AGPAT2" 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=AGPAT2" 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=AGPAT2" 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=AGPAT2&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/PA24622" 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:325" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0026718.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1914762" 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/AGPAT2#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:1914762" 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/10555/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=10555" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00011543;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-061103-541" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10555" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=AGPAT2&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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603100
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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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1-ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 2; AGPAT2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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LYSOPHOSPHATIDIC ACID ACYLTRANSFERASE-BETA<br />
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LPAAT-BETA
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=AGPAT2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">AGPAT2</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/9/659?start=-3&limit=10&highlight=659">9q34.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr9:136673143-136687457&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'})">9:136,673,143-136,687,457</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/9/659?start=-3&limit=10&highlight=659">
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9q34.3
|
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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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Lipodystrophy, congenital generalized, type 1
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/608594"> 608594 </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>
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/603100" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/603100" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
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|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<p>Lysophosphatidic acid (LPA) is a phospholipid with diverse biologic activities. LPA acyltransferase (LPAAT), or 1-acyl-sn-glycerol-3-phosphate acetyltransferase (<a href="https://enzyme.expasy.org/EC/2.3.1.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 2.3.1.51</a>), catalyzes the conversion of LPA to PA. By searching an EST database for human homologs of yeast LPAAT, <a href="#8" class="mim-tip-reference" title="West, J., Tompkins, C. K., Balantac, N., Nudelman, E., Meengs, B., White, T., Bursten, S., Coleman, J., Kumar, A., Singer, J. W., Leung, D. W. <strong>Cloning and expression of two human lysophosphatidic acid acyltransferase cDNAs that enhance cytokine-induced signaling responses in cells.</strong> DNA Cell Biol. 16: 691-701, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9212163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9212163</a>] [<a href="https://doi.org/10.1089/dna.1997.16.691" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9212163">West et al. (1997)</a> identified cDNAs encoding 2 proteins, which they designated LPAAT-alpha (<a href="/entry/603099">603099</a>) and LPAAT-beta. The predicted LPAAT-beta protein is 278 amino acids long. Overall, the sequences of the 2 human proteins are 12% identical to the sequence of yeast LPAAT. Northern blot analysis revealed that, unlike LPAAT-alpha, LPAAT-beta is expressed in a distinct tissue-specific pattern, with the highest levels of expression observed in liver and heart. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9212163" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Lu, B., Jiang, Y. J., Zhou, Y., Xu, F. Y., Hatch, G. M., Choy, P. C. <strong>Cloning and characterization of murine 1-acyl-sn-glycerol 3-phosphate acyltransferases and their regulation by PPAR-alpha in murine heart.</strong> Biochem. J. 385: 469-477, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15367102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15367102</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15367102[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/10.1042/BJ20041348" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15367102">Lu et al. (2005)</a> cloned mouse Agpat2. The deduced 278-amino acid protein has a putative N-terminal signal sequence and 3 transmembrane domains. It contains catalytic and substrate-binding motifs and a third motif conserved among AGPAT family members. Mouse and human AGPAT2 share 76% amino acid identity. RT-PCR analysis of mouse tissues detected highest expression in liver, followed by kidney, gut, skeletal muscle, and heart. All other tissues showed little to no expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15367102" 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="#8" class="mim-tip-reference" title="West, J., Tompkins, C. K., Balantac, N., Nudelman, E., Meengs, B., White, T., Bursten, S., Coleman, J., Kumar, A., Singer, J. W., Leung, D. W. <strong>Cloning and expression of two human lysophosphatidic acid acyltransferase cDNAs that enhance cytokine-induced signaling responses in cells.</strong> DNA Cell Biol. 16: 691-701, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9212163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9212163</a>] [<a href="https://doi.org/10.1089/dna.1997.16.691" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9212163">West et al. (1997)</a> demonstrated that human LPAAT-alpha and LPAAT-beta complemented an E. coli LPAAT mutation. Overexpression of the human LPAATs in mammalian cell lines led to increased enzyme activity. This increase in activity correlated with enhanced transcription and synthesis of IL6 (<a href="/entry/147620">147620</a>) and TNF-alpha (<a href="/entry/191160">191160</a>), suggesting that LPAAT overexpression may amplify the cellular response to cytokine stimulation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9212163" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using RT-PCR, <a href="#7" class="mim-tip-reference" title="Lu, B., Jiang, Y. J., Zhou, Y., Xu, F. Y., Hatch, G. M., Choy, P. C. <strong>Cloning and characterization of murine 1-acyl-sn-glycerol 3-phosphate acyltransferases and their regulation by PPAR-alpha in murine heart.</strong> Biochem. J. 385: 469-477, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15367102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15367102</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15367102[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/10.1042/BJ20041348" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15367102">Lu et al. (2005)</a> found that activation of Ppar-alpha (<a href="/entry/170998">170998</a>) in mouse heart elevated Agpat2 expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15367102" 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="#3" class="mim-tip-reference" title="Eberhardt, C., Gray, P. W., Tjoelker, L. W. <strong>Human lysophosphatidic acid acyltransferase: cDNA cloning, expression, and localization to chromosome 9q34.3.</strong> J. Biol. Chem. 272: 20299-20305, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9242711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9242711</a>] [<a href="https://doi.org/10.1074/jbc.272.32.20299" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9242711">Eberhardt et al. (1997)</a> reported that the LPAAT-beta gene contains 6 exons and spans less than 20 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9242711" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By fluorescence in situ hybridization, <a href="#3" class="mim-tip-reference" title="Eberhardt, C., Gray, P. W., Tjoelker, L. W. <strong>Human lysophosphatidic acid acyltransferase: cDNA cloning, expression, and localization to chromosome 9q34.3.</strong> J. Biol. Chem. 272: 20299-20305, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9242711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9242711</a>] [<a href="https://doi.org/10.1074/jbc.272.32.20299" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9242711">Eberhardt et al. (1997)</a> mapped the LPAAT-beta gene to 9q34.3. <a href="#2" class="mim-tip-reference" title="Aguado, B., Campbell, R. D. <strong>Characterization of a human lysophosphatidic acid acyltransferase that is encoded by a gene located in the class III region of the human major histocompatibility complex.</strong> J. Biol. Chem. 273: 4096-4105, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9461603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9461603</a>] [<a href="https://doi.org/10.1074/jbc.273.7.4096" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9461603">Aguado and Campbell (1998)</a> observed that the LPAAT-alpha gene is located at 6p21, making the LPAAT genes another example of 2 members of a gene family being found at 9q34 and 6p21. The authors suggested that the 2 chromosomal regions arose from duplication of an ancestral chromosomal segment. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9242711+9461603" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Lu, B., Jiang, Y. J., Zhou, Y., Xu, F. Y., Hatch, G. M., Choy, P. C. <strong>Cloning and characterization of murine 1-acyl-sn-glycerol 3-phosphate acyltransferases and their regulation by PPAR-alpha in murine heart.</strong> Biochem. J. 385: 469-477, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15367102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15367102</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15367102[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/10.1042/BJ20041348" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15367102">Lu et al. (2005)</a> mapped the mouse Agpat2 gene to chromosome 2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15367102" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of 11 pedigrees with autosomal recessive Berardinelli-Seip congenital lipodystrophy showing linkage to 9q34 (CGL1; <a href="/entry/608594">608594</a>), <a href="#1" class="mim-tip-reference" title="Agarwal, A. K., Arioglu, E., de Almeida, S., Akkoc, N., Taylor, S. I., Bowcock, A. M., Barnes, R. I., Garg, A. <strong>AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.</strong> Nature Genet. 31: 21-23, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11967537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11967537</a>] [<a href="https://doi.org/10.1038/ng880" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11967537">Agarwal et al. (2002)</a> identified 11 mutations in the AGPAT2 gene (see, e.g., <a href="#0001">603100.0001</a>-<a href="#0005">603100.0005</a>). All affected members carried homozygous or compound heterozygous mutations. The AGPAT2 enzyme catalyzes an essential reaction in the biosynthetic pathway of glycerophospholipids and triacylglycerol. <a href="#1" class="mim-tip-reference" title="Agarwal, A. K., Arioglu, E., de Almeida, S., Akkoc, N., Taylor, S. I., Bowcock, A. M., Barnes, R. I., Garg, A. <strong>AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.</strong> Nature Genet. 31: 21-23, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11967537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11967537</a>] [<a href="https://doi.org/10.1038/ng880" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11967537">Agarwal et al. (2002)</a> suggested that the AGPAT2 enzyme is likely to affect triacylglycerol synthesis in adipose tissue, and that mutations may cause lipodystrophy by resulting in triglyceride-depleted adipocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11967537" 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="#4" class="mim-tip-reference" title="Fu, M., Kazlauskaite, R., de Fatima Paiva Baracho, M., Do Nascimento Santos, M. G., Brandao-Neto, J., Villares, S., Celi, F. S., Wajchenberg, B. L., Shuldiner, A. R. <strong>Mutations in Gng31g and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects.</strong> J. Clin. Endocr. Metab. 89: 2916-2922, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15181077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15181077</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15181077[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/10.1210/jc.2003-030485" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15181077">Fu et al. (2004)</a> screened for mutations in AGPAT2 and BSCL2 (<a href="/entry/606158">606158</a>) in 27 families with congenital generalized lipodystrophy. They found mutations in either AGPAT2 or BSCL2 in all but 4 probands, including 3 novel mutations in AGPAT2, lys215 to ter (<a href="#0006">603100.0006</a>), IVS3-1G-C (<a href="#0007">603100.0007</a>), and phe189 to ter (<a href="#0008">603100.0008</a>). In 3 sibs with congenital generalized lipodystrophy and cystic angiomatosis of long bones (a phenotypic variant known as Brunzell syndrome), they identified a splice site mutation in AGPAT2 (IVS4-2A-G; <a href="#0002">603100.0002</a>). <a href="#4" class="mim-tip-reference" title="Fu, M., Kazlauskaite, R., de Fatima Paiva Baracho, M., Do Nascimento Santos, M. G., Brandao-Neto, J., Villares, S., Celi, F. S., Wajchenberg, B. L., Shuldiner, A. R. <strong>Mutations in Gng31g and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects.</strong> J. Clin. Endocr. Metab. 89: 2916-2922, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15181077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15181077</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15181077[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/10.1210/jc.2003-030485" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15181077">Fu et al. (2004)</a> concluded that there did not appear to be any distinguishing clinical characteristics between subjects with congenital generalized lipodystrophy with AGPAT2 or BSCL2 mutations with the exception of mental retardation in carriers of BSCL2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15181077" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 5 patients from 3 families (families 3-5) with CGL1, <a href="#6" class="mim-tip-reference" title="Gunes, N., Kutlu, T., Tekant, G. T., Eroglu, A. G., Ustundag, N. C., Ozturk, B., Onay, H., Tuysuz, B. <strong>Congenital generalized lipodystrophy: The evaluation of clinical follow-up findings in a series of five patients with type 1 and two patients with type 4.</strong> Europ. J. Med. Genet. 63: 103819, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31778856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31778856</a>] [<a href="https://doi.org/10.1016/j.ejmg.2019.103819" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31778856">Gunes et al. (2020)</a> identified homozygous mutations in the AGPAT2 gene (<a href="#0010">603100.0010</a>-<a href="#0012">603100.0012</a>). The mutations were identified by whole-exome sequencing of the 4 genes previously associated with congenital lipodystrophy. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31778856" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=603100[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs104894093 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894093;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/rs104894093?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=rs104894093" 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=rs104894093" 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=RCV000007003 OR RCV001701561" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007003, RCV001701561" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007003...</a>
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<p>In affected sibs from 2 unrelated families segregating Berardinelli-Seip congenital lipodystrophy-1 (CGL1; <a href="/entry/608594">608594</a>), one from Turkey and the other from Belgium, <a href="#1" class="mim-tip-reference" title="Agarwal, A. K., Arioglu, E., de Almeida, S., Akkoc, N., Taylor, S. I., Bowcock, A. M., Barnes, R. I., Garg, A. <strong>AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.</strong> Nature Genet. 31: 21-23, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11967537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11967537</a>] [<a href="https://doi.org/10.1038/ng880" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11967537">Agarwal et al. (2002)</a> found a 202C-T transition in the AGPAT2 gene in homozygous state, leading to an arg68-to-ter (R68X) amino acid change. In one family the 2 sibs were 50 and 53 years old; in the other, the 2 sibs were 15 and 17 years old. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11967537" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs116807569 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs116807569;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/rs116807569?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=rs116807569" 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=rs116807569" 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=RCV000007004 OR RCV001579685 OR RCV003488328" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007004, RCV001579685, RCV003488328" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007004...</a>
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<p>In affected members of 5 families of African descent with Berardinelli-Seip congenital lipodystrophy-1 (CGL1; <a href="/entry/608594">608594</a>), <a href="#1" class="mim-tip-reference" title="Agarwal, A. K., Arioglu, E., de Almeida, S., Akkoc, N., Taylor, S. I., Bowcock, A. M., Barnes, R. I., Garg, A. <strong>AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.</strong> Nature Genet. 31: 21-23, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11967537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11967537</a>] [<a href="https://doi.org/10.1038/ng880" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11967537">Agarwal et al. (2002)</a> found either homozygosity or compound heterozygosity for a splice site mutation in the AGPAT2 gene (IVS4-2A-G) resulting in a frameshift and a premature termination at codon 228 (Gln196fsTer228). In 2 African American families living in the U.S., the mutation was present in homozygous state. In another U.S. African American family, it was present in compound heterozygous state with a 1-bp insertion, 377insT, causing a frameshift, Leu126fsTer146 (<a href="#0003">603100.0003</a>). In a Caribbean family living in the U.K., it was found in compound heterozygous state with a missense mutation, leu228 to pro (<a href="#0004">603100.0004</a>). In an African Caribbean family living in Trinidad, it was present in compound heterozygous state with a 3-bp deletion, 418delTTC (<a href="#0005">603100.0005</a>), resulting in loss of phenylalanine-140. The 4 homozygous individuals in 2 families varied in age from 23 to 37 years. <a href="#1" class="mim-tip-reference" title="Agarwal, A. K., Arioglu, E., de Almeida, S., Akkoc, N., Taylor, S. I., Bowcock, A. M., Barnes, R. I., Garg, A. <strong>AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.</strong> Nature Genet. 31: 21-23, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11967537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11967537</a>] [<a href="https://doi.org/10.1038/ng880" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11967537">Agarwal et al. (2002)</a> found that the splice site mutation in the 5 families of African origin was on an allele that had the same haplotype for 7 markers extending 33 kb, suggesting a common ancestral mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11967537" 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="#4" class="mim-tip-reference" title="Fu, M., Kazlauskaite, R., de Fatima Paiva Baracho, M., Do Nascimento Santos, M. G., Brandao-Neto, J., Villares, S., Celi, F. S., Wajchenberg, B. L., Shuldiner, A. R. <strong>Mutations in Gng31g and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects.</strong> J. Clin. Endocr. Metab. 89: 2916-2922, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15181077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15181077</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15181077[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/10.1210/jc.2003-030485" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15181077">Fu et al. (2004)</a> found this mutation in an African American female with congenital generalized lipodystrophy and in 3 African American sibs with cystic angiomatosis of the long bones (a phenotype designated Brunzell syndrome; see <a href="/entry/608594">608594</a>). In the African American sibship, the 2 females had primary amenorrhea. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15181077" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1</strong>
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AGPAT2, 1-BP INS, 377T
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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> rs387906355 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906355;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/rs387906355?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=rs387906355" 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=rs387906355" 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=RCV000007005" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007005" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007005</a>
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<p>In a U.S. African American family, <a href="#1" class="mim-tip-reference" title="Agarwal, A. K., Arioglu, E., de Almeida, S., Akkoc, N., Taylor, S. I., Bowcock, A. M., Barnes, R. I., Garg, A. <strong>AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.</strong> Nature Genet. 31: 21-23, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11967537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11967537</a>] [<a href="https://doi.org/10.1038/ng880" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11967537">Agarwal et al. (2002)</a> found that 2 individuals, aged 29 and 31 years, with congenital generalized lipodystrophy-1 (CGL1; <a href="/entry/608594">608594</a>) were compound heterozygotes for the AGPAT2 IVS4-2A-G splice site mutation (<a href="#0002">603100.0002</a>) and a 1-bp deletion, 377insT, which caused a frameshift mutation beginning with leu126 and ending with premature termination at codon 146. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11967537" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1</strong>
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AGPAT2, LEU228PRO
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894100 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894100;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=rs104894100" 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=rs104894100" 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=RCV000007006" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007006" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007006</a>
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<p>In an African Caribbean family living in the U.K., <a href="#1" class="mim-tip-reference" title="Agarwal, A. K., Arioglu, E., de Almeida, S., Akkoc, N., Taylor, S. I., Bowcock, A. M., Barnes, R. I., Garg, A. <strong>AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.</strong> Nature Genet. 31: 21-23, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11967537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11967537</a>] [<a href="https://doi.org/10.1038/ng880" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11967537">Agarwal et al. (2002)</a> found that affected members with congenital generalized lipodystrophy-1 (CGL1; <a href="/entry/608594">608594</a>) were compound heterozygotes for mutations of the AGPAT2 gene: the IVS4 acceptor splice mutation (<a href="#0002">603100.0002</a>) and a missense mutation, leu228 to pro (L228P), resulting from a 683T-C transition. The affected individuals were 13 and 15 years old. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11967537" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906356 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906356;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=rs387906356" 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=rs387906356" 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=RCV000007007" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007007" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007007</a>
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<p>In an African Caribbean family from Trinidad with congenital generalized lipodystrophy-1 (CGL1; <a href="/entry/608594">608594</a>), <a href="#1" class="mim-tip-reference" title="Agarwal, A. K., Arioglu, E., de Almeida, S., Akkoc, N., Taylor, S. I., Bowcock, A. M., Barnes, R. I., Garg, A. <strong>AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.</strong> Nature Genet. 31: 21-23, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11967537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11967537</a>] [<a href="https://doi.org/10.1038/ng880" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11967537">Agarwal et al. (2002)</a> found that 1 affected individual, a 3-year-old female, was a compound heterozygote for the AGPAT2 intron 4 acceptor splice site mutation (<a href="#0002">603100.0002</a>) and a 3-bp deletion, 418delTTC, causing deletion of phenylalanine at codon 140. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11967537" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121908925 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908925;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=rs121908925" 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=rs121908925" 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=RCV000007008" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007008" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007008</a>
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<p>In 2 female sibs from an African American family with congenital generalized lipodystrophy-1 (CGL1; <a href="/entry/608594">608594</a>), <a href="#4" class="mim-tip-reference" title="Fu, M., Kazlauskaite, R., de Fatima Paiva Baracho, M., Do Nascimento Santos, M. G., Brandao-Neto, J., Villares, S., Celi, F. S., Wajchenberg, B. L., Shuldiner, A. R. <strong>Mutations in Gng31g and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects.</strong> J. Clin. Endocr. Metab. 89: 2916-2922, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15181077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15181077</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15181077[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/10.1210/jc.2003-030485" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15181077">Fu et al. (2004)</a> found homozygosity for an A-to-T transversion at nucleotide 712 in exon 5 of the AGPAT2 gene that caused lys215 of the protein to be replaced by a premature termination codon (K215X). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15181077" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs606231168 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs606231168;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/rs606231168?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=rs606231168" 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=rs606231168" 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=RCV000007009" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007009" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007009</a>
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<p>In an individual from Brazil of African descent with congenital generalized lipodystrophy-1 (CGL1; <a href="/entry/608594">608594</a>) <a href="#4" class="mim-tip-reference" title="Fu, M., Kazlauskaite, R., de Fatima Paiva Baracho, M., Do Nascimento Santos, M. G., Brandao-Neto, J., Villares, S., Celi, F. S., Wajchenberg, B. L., Shuldiner, A. R. <strong>Mutations in Gng31g and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects.</strong> J. Clin. Endocr. Metab. 89: 2916-2922, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15181077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15181077</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15181077[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/10.1210/jc.2003-030485" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15181077">Fu et al. (2004)</a> found compound heterozygosity for mutations in the AGPAT2 gene. One allele carried a splice site mutation (IVS3-1G-C); the other carried a premature termination mutation (<a href="#0008">603100.0008</a>). The IVS3-1G-C mutation predicted frameshift and premature termination (Asn164fsTer249). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15181077" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0008 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908926 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908926;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/rs121908926?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=rs121908926" 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=rs121908926" 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=RCV000007010" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007010" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007010</a>
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<p><a href="#4" class="mim-tip-reference" title="Fu, M., Kazlauskaite, R., de Fatima Paiva Baracho, M., Do Nascimento Santos, M. G., Brandao-Neto, J., Villares, S., Celi, F. S., Wajchenberg, B. L., Shuldiner, A. R. <strong>Mutations in Gng31g and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects.</strong> J. Clin. Endocr. Metab. 89: 2916-2922, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15181077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15181077</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15181077[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/10.1210/jc.2003-030485" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15181077">Fu et al. (2004)</a> found that 1 AGPAT2 allele of a Brazilian individual with congenital generalized lipodystrophy-1 (CGL1; <a href="/entry/608594">608594</a>) contained a C-to-A transversion at nucleotide 636 in exon 4 that resulted in a premature termination at phe189 (F189X). The other allele carried a splice site mutation (<a href="#0007">603100.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15181077" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0009 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000007011" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007011" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007011</a>
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<p>In all 10 affected members from 2 families with congenital generalized lipodystrophy-1 (CGL1; <a href="/entry/608594">608594</a>) from southeastern Brazil, <a href="#5" class="mim-tip-reference" title="Gomes, K. B., Fernandes, A. P., Ferreira, A. C. S., Pardini, H., Garg, A., Magre, J., Pardini, V. C. <strong>Mutations in the seipin and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of Brazil.</strong> J. Clin. Endocr. Metab. 89: 357-361, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14715872/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14715872</a>] [<a href="https://doi.org/10.1210/jc.2003-030415" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14715872">Gomes et al. (2004)</a> identified homozygosity for a 1.036-bp deletion encompassing nucleotide 50 of exon 3 to nucleotide 534 within intron 4 of the AGPAT2 gene, resulting in the skipping of exons 3 and 4 and inducing the deletion of nucleotides 317-588. The mutation causes a frameshift and premature termination codon, Gly106fsTer188. <a href="#5" class="mim-tip-reference" title="Gomes, K. B., Fernandes, A. P., Ferreira, A. C. S., Pardini, H., Garg, A., Magre, J., Pardini, V. C. <strong>Mutations in the seipin and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of Brazil.</strong> J. Clin. Endocr. Metab. 89: 357-361, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14715872/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14715872</a>] [<a href="https://doi.org/10.1210/jc.2003-030415" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14715872">Gomes et al. (2004)</a> noted that this mutation had previously been described in a large consanguineous pedigree from Portugal by <a href="#1" class="mim-tip-reference" title="Agarwal, A. K., Arioglu, E., de Almeida, S., Akkoc, N., Taylor, S. I., Bowcock, A. M., Barnes, R. I., Garg, A. <strong>AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.</strong> Nature Genet. 31: 21-23, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11967537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11967537</a>] [<a href="https://doi.org/10.1038/ng880" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11967537">Agarwal et al. (2002)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11967537+14715872" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0010 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs1255380257 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1255380257;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/rs1255380257?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=rs1255380257" 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=rs1255380257" 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=RCV001706773" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001706773" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001706773</a>
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<p>In a patient, born of consanguineous Turkish parents (family 3), with congenital lipodystrophy-1 (CGL1; <a href="/entry/608594">608594</a>), <a href="#6" class="mim-tip-reference" title="Gunes, N., Kutlu, T., Tekant, G. T., Eroglu, A. G., Ustundag, N. C., Ozturk, B., Onay, H., Tuysuz, B. <strong>Congenital generalized lipodystrophy: The evaluation of clinical follow-up findings in a series of five patients with type 1 and two patients with type 4.</strong> Europ. J. Med. Genet. 63: 103819, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31778856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31778856</a>] [<a href="https://doi.org/10.1016/j.ejmg.2019.103819" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31778856">Gunes et al. (2020)</a> identified homozygosity for a c.685G-T transversion in the AGPAT2 gene, resulting in a glu229-to-ter (E229X) substitution. The mutation was identified by whole-exome sequencing of 4 genes associated with lipodystrophy. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31778856" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0011 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1</strong>
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AGPAT2, c.316+1G-T
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV003237332" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV003237332" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV003237332</a>
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<p>In 2 sibs, born of consanguineous Turkish parents (family 4), with congenital lipodystrophy-1 (CGL1; <a href="/entry/608594">608594</a>), <a href="#6" class="mim-tip-reference" title="Gunes, N., Kutlu, T., Tekant, G. T., Eroglu, A. G., Ustundag, N. C., Ozturk, B., Onay, H., Tuysuz, B. <strong>Congenital generalized lipodystrophy: The evaluation of clinical follow-up findings in a series of five patients with type 1 and two patients with type 4.</strong> Europ. J. Med. Genet. 63: 103819, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31778856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31778856</a>] [<a href="https://doi.org/10.1016/j.ejmg.2019.103819" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31778856">Gunes et al. (2020)</a> identified homozygosity for a c.316+1G-T transversion in the AGPAT2 gene, resulting in a splicing abnormality. The mutation was identified by whole-exome sequencing of 4 genes associated with lipodystrophy. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31778856" 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> rs748157664 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs748157664;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/rs748157664?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=rs748157664" 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=rs748157664" 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=RCV000412645 OR RCV000494007" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000412645, RCV000494007" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000412645...</a>
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<p>In 2 sibs, born of consanguineous Turkish parents (family 5), with congenital lipodystrophy-1 (CGL1; <a href="/entry/608594">608594</a>), <a href="#6" class="mim-tip-reference" title="Gunes, N., Kutlu, T., Tekant, G. T., Eroglu, A. G., Ustundag, N. C., Ozturk, B., Onay, H., Tuysuz, B. <strong>Congenital generalized lipodystrophy: The evaluation of clinical follow-up findings in a series of five patients with type 1 and two patients with type 4.</strong> Europ. J. Med. Genet. 63: 103819, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31778856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31778856</a>] [<a href="https://doi.org/10.1016/j.ejmg.2019.103819" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31778856">Gunes et al. (2020)</a> identified homozygosity for a c.514G-A transition in the AGPAT2 gene, resulting in a glu172-to-lys (E172K) substitution. The mutation was identified by whole-exome sequencing of 4 genes associated with lipodystrophy. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31778856" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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Agarwal, A. K., Arioglu, E., de Almeida, S., Akkoc, N., Taylor, S. I., Bowcock, A. M., Barnes, R. I., Garg, A.
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<strong>AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.</strong>
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[<a href="https://doi.org/10.1038/ng880" target="_blank">Full Text</a>]
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Aguado, B., Campbell, R. D.
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<strong>Characterization of a human lysophosphatidic acid acyltransferase that is encoded by a gene located in the class III region of the human major histocompatibility complex.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9461603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9461603</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9461603" 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.273.7.4096" target="_blank">Full Text</a>]
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Eberhardt, C., Gray, P. W., Tjoelker, L. W.
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<strong>Human lysophosphatidic acid acyltransferase: cDNA cloning, expression, and localization to chromosome 9q34.3.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9242711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9242711</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9242711" 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.272.32.20299" target="_blank">Full Text</a>]
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Fu, M., Kazlauskaite, R., de Fatima Paiva Baracho, M., Do Nascimento Santos, M. G., Brandao-Neto, J., Villares, S., Celi, F. S., Wajchenberg, B. L., Shuldiner, A. R.
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<strong>Mutations in Gng31g and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects.</strong>
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J. Clin. Endocr. Metab. 89: 2916-2922, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15181077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15181077</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15181077[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=15181077" 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.2003-030485" target="_blank">Full Text</a>]
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Gomes, K. B., Fernandes, A. P., Ferreira, A. C. S., Pardini, H., Garg, A., Magre, J., Pardini, V. C.
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<strong>Mutations in the seipin and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of Brazil.</strong>
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J. Clin. Endocr. Metab. 89: 357-361, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14715872/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14715872</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14715872" 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.2003-030415" target="_blank">Full Text</a>]
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Gunes, N., Kutlu, T., Tekant, G. T., Eroglu, A. G., Ustundag, N. C., Ozturk, B., Onay, H., Tuysuz, B.
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<strong>Congenital generalized lipodystrophy: The evaluation of clinical follow-up findings in a series of five patients with type 1 and two patients with type 4.</strong>
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Europ. J. Med. Genet. 63: 103819, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31778856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31778856</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31778856" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Lu, B., Jiang, Y. J., Zhou, Y., Xu, F. Y., Hatch, G. M., Choy, P. C.
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<strong>Cloning and characterization of murine 1-acyl-sn-glycerol 3-phosphate acyltransferases and their regulation by PPAR-alpha in murine heart.</strong>
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Biochem. J. 385: 469-477, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15367102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15367102</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15367102[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=15367102" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1042/BJ20041348" target="_blank">Full Text</a>]
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West, J., Tompkins, C. K., Balantac, N., Nudelman, E., Meengs, B., White, T., Bursten, S., Coleman, J., Kumar, A., Singer, J. W., Leung, D. W.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9212163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9212163</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9212163" 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/10.1089/dna.1997.16.691" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 06/27/2023
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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 : 8/30/2012<br>John A. Phillips, III - updated : 3/15/2007<br>John A. Phillips, III - updated : 4/5/2006<br>Cassandra L. Kniffin - updated : 4/28/2004<br>Victor A. McKusick - updated : 4/30/2002
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Rebekah S. Rasooly : 10/7/1998
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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="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 06/27/2023
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 11/26/2014<br>alopez : 8/31/2012<br>terry : 8/30/2012<br>terry : 2/16/2011<br>carol : 3/15/2007<br>alopez : 4/5/2006<br>carol : 5/5/2004<br>ckniffin : 4/28/2004<br>carol : 3/17/2004<br>alopez : 5/1/2002<br>terry : 4/30/2002<br>carol : 12/7/1999<br>alopez : 10/8/1998<br>alopez : 10/7/1998
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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> 603100
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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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1-ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 2; AGPAT2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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LYSOPHOSPHATIDIC ACID ACYLTRANSFERASE-BETA<br />
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LPAAT-BETA
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: AGPAT2</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 9q34.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 9:136,673,143-136,687,457 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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9q34.3
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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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Lipodystrophy, congenital generalized, type 1
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</span>
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</td>
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<td>
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<span class="mim-font">
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608594
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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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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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>Lysophosphatidic acid (LPA) is a phospholipid with diverse biologic activities. LPA acyltransferase (LPAAT), or 1-acyl-sn-glycerol-3-phosphate acetyltransferase (EC 2.3.1.51), catalyzes the conversion of LPA to PA. By searching an EST database for human homologs of yeast LPAAT, West et al. (1997) identified cDNAs encoding 2 proteins, which they designated LPAAT-alpha (603099) and LPAAT-beta. The predicted LPAAT-beta protein is 278 amino acids long. Overall, the sequences of the 2 human proteins are 12% identical to the sequence of yeast LPAAT. Northern blot analysis revealed that, unlike LPAAT-alpha, LPAAT-beta is expressed in a distinct tissue-specific pattern, with the highest levels of expression observed in liver and heart. </p><p>Lu et al. (2005) cloned mouse Agpat2. The deduced 278-amino acid protein has a putative N-terminal signal sequence and 3 transmembrane domains. It contains catalytic and substrate-binding motifs and a third motif conserved among AGPAT family members. Mouse and human AGPAT2 share 76% amino acid identity. RT-PCR analysis of mouse tissues detected highest expression in liver, followed by kidney, gut, skeletal muscle, and heart. All other tissues showed little to no expression. </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>West et al. (1997) demonstrated that human LPAAT-alpha and LPAAT-beta complemented an E. coli LPAAT mutation. Overexpression of the human LPAATs in mammalian cell lines led to increased enzyme activity. This increase in activity correlated with enhanced transcription and synthesis of IL6 (147620) and TNF-alpha (191160), suggesting that LPAAT overexpression may amplify the cellular response to cytokine stimulation. </p><p>Using RT-PCR, Lu et al. (2005) found that activation of Ppar-alpha (170998) in mouse heart elevated Agpat2 expression. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Eberhardt et al. (1997) reported that the LPAAT-beta gene contains 6 exons and spans less than 20 kb. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
|
<p>By fluorescence in situ hybridization, Eberhardt et al. (1997) mapped the LPAAT-beta gene to 9q34.3. Aguado and Campbell (1998) observed that the LPAAT-alpha gene is located at 6p21, making the LPAAT genes another example of 2 members of a gene family being found at 9q34 and 6p21. The authors suggested that the 2 chromosomal regions arose from duplication of an ancestral chromosomal segment. </p><p>Lu et al. (2005) mapped the mouse Agpat2 gene to chromosome 2. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In affected members of 11 pedigrees with autosomal recessive Berardinelli-Seip congenital lipodystrophy showing linkage to 9q34 (CGL1; 608594), Agarwal et al. (2002) identified 11 mutations in the AGPAT2 gene (see, e.g., 603100.0001-603100.0005). All affected members carried homozygous or compound heterozygous mutations. The AGPAT2 enzyme catalyzes an essential reaction in the biosynthetic pathway of glycerophospholipids and triacylglycerol. Agarwal et al. (2002) suggested that the AGPAT2 enzyme is likely to affect triacylglycerol synthesis in adipose tissue, and that mutations may cause lipodystrophy by resulting in triglyceride-depleted adipocytes. </p><p>Fu et al. (2004) screened for mutations in AGPAT2 and BSCL2 (606158) in 27 families with congenital generalized lipodystrophy. They found mutations in either AGPAT2 or BSCL2 in all but 4 probands, including 3 novel mutations in AGPAT2, lys215 to ter (603100.0006), IVS3-1G-C (603100.0007), and phe189 to ter (603100.0008). In 3 sibs with congenital generalized lipodystrophy and cystic angiomatosis of long bones (a phenotypic variant known as Brunzell syndrome), they identified a splice site mutation in AGPAT2 (IVS4-2A-G; 603100.0002). Fu et al. (2004) concluded that there did not appear to be any distinguishing clinical characteristics between subjects with congenital generalized lipodystrophy with AGPAT2 or BSCL2 mutations with the exception of mental retardation in carriers of BSCL2. </p><p>In 5 patients from 3 families (families 3-5) with CGL1, Gunes et al. (2020) identified homozygous mutations in the AGPAT2 gene (603100.0010-603100.0012). The mutations were identified by whole-exome sequencing of the 4 genes previously associated with congenital lipodystrophy. Functional studies were not performed. </p>
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</span>
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<div>
|
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<br />
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</div>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
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</span>
|
|
<strong>12 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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AGPAT2, ARG68TER
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|
<br />
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|
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SNP: rs104894093,
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|
|
gnomAD: rs104894093,
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|
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ClinVar: RCV000007003, RCV001701561
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected sibs from 2 unrelated families segregating Berardinelli-Seip congenital lipodystrophy-1 (CGL1; 608594), one from Turkey and the other from Belgium, Agarwal et al. (2002) found a 202C-T transition in the AGPAT2 gene in homozygous state, leading to an arg68-to-ter (R68X) amino acid change. In one family the 2 sibs were 50 and 53 years old; in the other, the 2 sibs were 15 and 17 years old. </p>
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|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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AGPAT2, IVS4AS, A-G, -2
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<br />
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SNP: rs116807569,
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gnomAD: rs116807569,
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ClinVar: RCV000007004, RCV001579685, RCV003488328
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In affected members of 5 families of African descent with Berardinelli-Seip congenital lipodystrophy-1 (CGL1; 608594), Agarwal et al. (2002) found either homozygosity or compound heterozygosity for a splice site mutation in the AGPAT2 gene (IVS4-2A-G) resulting in a frameshift and a premature termination at codon 228 (Gln196fsTer228). In 2 African American families living in the U.S., the mutation was present in homozygous state. In another U.S. African American family, it was present in compound heterozygous state with a 1-bp insertion, 377insT, causing a frameshift, Leu126fsTer146 (603100.0003). In a Caribbean family living in the U.K., it was found in compound heterozygous state with a missense mutation, leu228 to pro (603100.0004). In an African Caribbean family living in Trinidad, it was present in compound heterozygous state with a 3-bp deletion, 418delTTC (603100.0005), resulting in loss of phenylalanine-140. The 4 homozygous individuals in 2 families varied in age from 23 to 37 years. Agarwal et al. (2002) found that the splice site mutation in the 5 families of African origin was on an allele that had the same haplotype for 7 markers extending 33 kb, suggesting a common ancestral mutation. </p><p>Fu et al. (2004) found this mutation in an African American female with congenital generalized lipodystrophy and in 3 African American sibs with cystic angiomatosis of the long bones (a phenotype designated Brunzell syndrome; see 608594). In the African American sibship, the 2 females had primary amenorrhea. </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 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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AGPAT2, 1-BP INS, 377T
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<br />
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SNP: rs387906355,
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gnomAD: rs387906355,
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ClinVar: RCV000007005
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In a U.S. African American family, Agarwal et al. (2002) found that 2 individuals, aged 29 and 31 years, with congenital generalized lipodystrophy-1 (CGL1; 608594) were compound heterozygotes for the AGPAT2 IVS4-2A-G splice site mutation (603100.0002) and a 1-bp deletion, 377insT, which caused a frameshift mutation beginning with leu126 and ending with premature termination at codon 146. </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 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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AGPAT2, LEU228PRO
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<br />
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SNP: rs104894100,
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ClinVar: RCV000007006
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In an African Caribbean family living in the U.K., Agarwal et al. (2002) found that affected members with congenital generalized lipodystrophy-1 (CGL1; 608594) were compound heterozygotes for mutations of the AGPAT2 gene: the IVS4 acceptor splice mutation (603100.0002) and a missense mutation, leu228 to pro (L228P), resulting from a 683T-C transition. The affected individuals were 13 and 15 years old. </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 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1</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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AGPAT2, 3-BP DEL, 418TTC
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<br />
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|
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SNP: rs387906356,
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|
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ClinVar: RCV000007007
|
|
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</span>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In an African Caribbean family from Trinidad with congenital generalized lipodystrophy-1 (CGL1; 608594), Agarwal et al. (2002) found that 1 affected individual, a 3-year-old female, was a compound heterozygote for the AGPAT2 intron 4 acceptor splice site mutation (603100.0002) and a 3-bp deletion, 418delTTC, causing deletion of phenylalanine at codon 140. </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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
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<span class="mim-text-font">
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|
|
|
AGPAT2, LYS215TER
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<br />
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|
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SNP: rs121908925,
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|
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ClinVar: RCV000007008
|
|
|
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|
|
</span>
|
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</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 female sibs from an African American family with congenital generalized lipodystrophy-1 (CGL1; 608594), Fu et al. (2004) found homozygosity for an A-to-T transversion at nucleotide 712 in exon 5 of the AGPAT2 gene that caused lys215 of the protein to be replaced by a premature termination codon (K215X). </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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|
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
AGPAT2, IVS3, A-G, -1
|
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|
|
<br />
|
|
|
|
SNP: rs606231168,
|
|
|
|
|
|
gnomAD: rs606231168,
|
|
|
|
|
|
ClinVar: RCV000007009
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an individual from Brazil of African descent with congenital generalized lipodystrophy-1 (CGL1; 608594) Fu et al. (2004) found compound heterozygosity for mutations in the AGPAT2 gene. One allele carried a splice site mutation (IVS3-1G-C); the other carried a premature termination mutation (603100.0008). The IVS3-1G-C mutation predicted frameshift and premature termination (Asn164fsTer249). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
AGPAT2, PHE189TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908926,
|
|
|
|
|
|
gnomAD: rs121908926,
|
|
|
|
|
|
ClinVar: RCV000007010
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Fu et al. (2004) found that 1 AGPAT2 allele of a Brazilian individual with congenital generalized lipodystrophy-1 (CGL1; 608594) contained a C-to-A transversion at nucleotide 636 in exon 4 that resulted in a premature termination at phe189 (F189X). The other allele carried a splice site mutation (603100.0007). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
AGPAT2, 1,036-BP DEL
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000007011
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In all 10 affected members from 2 families with congenital generalized lipodystrophy-1 (CGL1; 608594) from southeastern Brazil, Gomes et al. (2004) identified homozygosity for a 1.036-bp deletion encompassing nucleotide 50 of exon 3 to nucleotide 534 within intron 4 of the AGPAT2 gene, resulting in the skipping of exons 3 and 4 and inducing the deletion of nucleotides 317-588. The mutation causes a frameshift and premature termination codon, Gly106fsTer188. Gomes et al. (2004) noted that this mutation had previously been described in a large consanguineous pedigree from Portugal by Agarwal et al. (2002). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
AGPAT2, GLU229TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1255380257,
|
|
|
|
|
|
gnomAD: rs1255380257,
|
|
|
|
|
|
ClinVar: RCV001706773
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient, born of consanguineous Turkish parents (family 3), with congenital lipodystrophy-1 (CGL1; 608594), Gunes et al. (2020) identified homozygosity for a c.685G-T transversion in the AGPAT2 gene, resulting in a glu229-to-ter (E229X) substitution. The mutation was identified by whole-exome sequencing of 4 genes associated with lipodystrophy. Functional studies were not performed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
AGPAT2, c.316+1G-T
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV003237332
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sibs, born of consanguineous Turkish parents (family 4), with congenital lipodystrophy-1 (CGL1; 608594), Gunes et al. (2020) identified homozygosity for a c.316+1G-T transversion in the AGPAT2 gene, resulting in a splicing abnormality. The mutation was identified by whole-exome sequencing of 4 genes associated with lipodystrophy. Functional studies were not performed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
AGPAT2, GLU172LYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs748157664,
|
|
|
|
|
|
gnomAD: rs748157664,
|
|
|
|
|
|
ClinVar: RCV000412645, RCV000494007
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sibs, born of consanguineous Turkish parents (family 5), with congenital lipodystrophy-1 (CGL1; 608594), Gunes et al. (2020) identified homozygosity for a c.514G-A transition in the AGPAT2 gene, resulting in a glu172-to-lys (E172K) substitution. The mutation was identified by whole-exome sequencing of 4 genes associated with lipodystrophy. Functional studies were not performed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Agarwal, A. K., Arioglu, E., de Almeida, S., Akkoc, N., Taylor, S. I., Bowcock, A. M., Barnes, R. I., Garg, A.
|
|
<strong>AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.</strong>
|
|
Nature Genet. 31: 21-23, 2002.
|
|
|
|
|
|
[PubMed: 11967537]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng880]
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Aguado, B., Campbell, R. D.
|
|
<strong>Characterization of a human lysophosphatidic acid acyltransferase that is encoded by a gene located in the class III region of the human major histocompatibility complex.</strong>
|
|
J. Biol. Chem. 273: 4096-4105, 1998.
|
|
|
|
|
|
[PubMed: 9461603]
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|
|
|
|
|
[Full Text: https://doi.org/10.1074/jbc.273.7.4096]
|
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|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Eberhardt, C., Gray, P. W., Tjoelker, L. W.
|
|
<strong>Human lysophosphatidic acid acyltransferase: cDNA cloning, expression, and localization to chromosome 9q34.3.</strong>
|
|
J. Biol. Chem. 272: 20299-20305, 1997.
|
|
|
|
|
|
[PubMed: 9242711]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1074/jbc.272.32.20299]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fu, M., Kazlauskaite, R., de Fatima Paiva Baracho, M., Do Nascimento Santos, M. G., Brandao-Neto, J., Villares, S., Celi, F. S., Wajchenberg, B. L., Shuldiner, A. R.
|
|
<strong>Mutations in Gng31g and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects.</strong>
|
|
J. Clin. Endocr. Metab. 89: 2916-2922, 2004.
|
|
|
|
|
|
[PubMed: 15181077]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jc.2003-030485]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gomes, K. B., Fernandes, A. P., Ferreira, A. C. S., Pardini, H., Garg, A., Magre, J., Pardini, V. C.
|
|
<strong>Mutations in the seipin and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of Brazil.</strong>
|
|
J. Clin. Endocr. Metab. 89: 357-361, 2004.
|
|
|
|
|
|
[PubMed: 14715872]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jc.2003-030415]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gunes, N., Kutlu, T., Tekant, G. T., Eroglu, A. G., Ustundag, N. C., Ozturk, B., Onay, H., Tuysuz, B.
|
|
<strong>Congenital generalized lipodystrophy: The evaluation of clinical follow-up findings in a series of five patients with type 1 and two patients with type 4.</strong>
|
|
Europ. J. Med. Genet. 63: 103819, 2020.
|
|
|
|
|
|
[PubMed: 31778856]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ejmg.2019.103819]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lu, B., Jiang, Y. J., Zhou, Y., Xu, F. Y., Hatch, G. M., Choy, P. C.
|
|
<strong>Cloning and characterization of murine 1-acyl-sn-glycerol 3-phosphate acyltransferases and their regulation by PPAR-alpha in murine heart.</strong>
|
|
Biochem. J. 385: 469-477, 2005.
|
|
|
|
|
|
[PubMed: 15367102]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1042/BJ20041348]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
West, J., Tompkins, C. K., Balantac, N., Nudelman, E., Meengs, B., White, T., Bursten, S., Coleman, J., Kumar, A., Singer, J. W., Leung, D. W.
|
|
<strong>Cloning and expression of two human lysophosphatidic acid acyltransferase cDNAs that enhance cytokine-induced signaling responses in cells.</strong>
|
|
DNA Cell Biol. 16: 691-701, 1997.
|
|
|
|
|
|
[PubMed: 9212163]
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|
|
|
|
[Full Text: https://doi.org/10.1089/dna.1997.16.691]
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</p>
|
|
</li>
|
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|
|
</ol>
|
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|
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<div>
|
|
<br />
|
|
</div>
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</div>
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</div>
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<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Hilary J. Vernon - updated : 06/27/2023<br>Patricia A. Hartz - updated : 8/30/2012<br>John A. Phillips, III - updated : 3/15/2007<br>John A. Phillips, III - updated : 4/5/2006<br>Cassandra L. Kniffin - updated : 4/28/2004<br>Victor A. McKusick - updated : 4/30/2002
|
|
</span>
|
|
</div>
|
|
</div>
|
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</div>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
|
<div class="row">
|
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</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">
|
|
Rebekah S. Rasooly : 10/7/1998
|
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</span>
|
|
</div>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
|
Edit History:
|
|
</span>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
carol : 06/27/2023<br>carol : 11/26/2014<br>alopez : 8/31/2012<br>terry : 8/30/2012<br>terry : 2/16/2011<br>carol : 3/15/2007<br>alopez : 4/5/2006<br>carol : 5/5/2004<br>ckniffin : 4/28/2004<br>carol : 3/17/2004<br>alopez : 5/1/2002<br>terry : 4/30/2002<br>carol : 12/7/1999<br>alopez : 10/8/1998<br>alopez : 10/7/1998
|
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</span>
|
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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