3811 lines
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Entry
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- *608786 - PYRUVATE CARBOXYLASE; PC
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*608786</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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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneStructure">Gene Structure</a>
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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="#animalModel">Animal Model</a>
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<a href="#nomenclature">Nomenclature</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/608786">Table View</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</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-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=ENSG00000173599;t=ENST00000393960" 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=5091" 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=608786" 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 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 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=ENSG00000173599;t=ENST00000393960" 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_000920,NM_001040716,NM_022172,XM_005274031,XM_005274032,XM_006718578,XM_006718579,XM_011545086,XM_011545087,XM_017017868,XM_017017869,XM_017017870,XM_017017871,XM_017017872,XM_047427058" 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_001040716" 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=608786" 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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</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=02032&isoform_id=02032_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/PC" 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/189656,387003,458236,632808,1101029,1709947,15079594,106049292,106049295,106049528,119594974,119594975,119594976,119594977,119594978,194387396,259427710,259453123,259459338,259469026,259475951,259707309,300538089,300556663,300627640,300628876,300632388,300641531,530396854,530396856,578821479,578821481,767968319,767968321,1034574066,1034574068,1034574070,1034574072,1034574075,2217283214,2462525698,2462525700,2462525702,2462525704,2462525706,2462525708,2462525710,2462525712,2462525714,2462525716" 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/P11498" 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=5091" 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=ENSG00000173599;t=ENST00000393960" 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=PC" 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=PC" 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+5091" 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/PC" 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:5091" 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/5091" 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=chr11&hgg_gene=ENST00000393960.7&hgg_start=66848420&hgg_end=66958383&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:8636" 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://medlineplus.gov/genetics/gene/pc" 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=608786[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=608786[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/PC/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000173599" 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=PC" 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=PC" 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=PC" 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=PC&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/PA32975" 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:8636" 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/FBgn0027580.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:97520" 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/PC#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:97520" 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/5091/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=5091" 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=WBGene00004258;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-000831-1" 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:5091" 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=PC&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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 87694001<br />
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<strong>ICD10CM:</strong> E74.4<br />
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">ICD+</a>
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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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608786
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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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PYRUVATE CARBOXYLASE; PC
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=PC" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PC</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/11/649?start=-3&limit=10&highlight=649">11q13.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr11:66848420-66958383&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'})">11:66,848,420-66,958,383</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/11/649?start=-3&limit=10&highlight=649">
|
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11q13.2
|
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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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Pyruvate carboxylase deficiency
|
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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/266150"> 266150 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/608786" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/608786" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<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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<p />
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</div>
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<p>Pyruvate carboxylase (<a href="https://enzyme.expasy.org/EC/6.4.1.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 6.4.1.1</a>) is a nuclear-encoded mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate. It is a key regulatory enzyme in gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Human PC is a tetramer composed of identical subunits (<a href="#1" class="mim-tip-reference" title="Barden, R. E., Taylor, B. L., Isohashi, F., Frey, W. H., II, Zander, G., Lee, J. C., Utter, M. F. <strong>Structural properties of pyruvate carboxylases from chicken liver and other sources.</strong> Proc. Nat. Acad. Sci. 72: 4308-4312, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1105579/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1105579</a>] [<a href="https://doi.org/10.1073/pnas.72.11.4308" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1105579">Barden et al., 1975</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1105579" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using an oligonucleotide probe specific for the amino acid sequence at the biotin site of pyruvate carboxylase to screen a human liver cDNA library, <a href="#6" class="mim-tip-reference" title="Freytag, S. O., Collier, K. J. <strong>Molecular cloning of a cDNA for human pyruvate carboxylase: structural relationship to other biotin-containing carboxylases and regulation of mRNA content in differentiating preadipocytes.</strong> J. Biol. Chem. 259: 12831-12837, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6548474/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6548474</a>]" pmid="6548474">Freytag and Collier (1984)</a> isolated 3 cDNA clones for pyruvate carboxylase. Northern blot analysis detected a 4.2-kb mRNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6548474" 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="#13" class="mim-tip-reference" title="Wexler, I. D., Du, Y., Lisgaris, M. V., Mandal, S. K., Freytag, S. O., Yang, B.-S., Liu, T.-C., Kwon, M., Patel, M. S., Kerr, D. S. <strong>Primary amino acid sequence and structure of human pyruvate carboxylase.</strong> Biochim. Biophys. Acta 1227: 46-52, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7918683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7918683</a>] [<a href="https://doi.org/10.1016/0925-4439(94)90105-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7918683">Wexler et al. (1994)</a> isolated a PC cDNA, which encodes a deduced 1,178-amino acid protein with a molecular mass of 129.6 kD for the full-length precursor and 127.4 kD for the mature apoprotein. Northern blot analysis demonstrated that the highest level of PC mRNA is in the liver. Based on homology with other biotin-containing proteins, the ATP, pyruvate, and biotin-binding sites were identified. <a href="#8" class="mim-tip-reference" title="MacKay, N., Rigat, B., Douglas, C., Chen, H. S., Robinson, B. H. <strong>cDNA cloning of human kidney pyruvate carboxylase.</strong> Biochem. Biophys. Res. Commun. 202: 1009-1014, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8048912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8048912</a>] [<a href="https://doi.org/10.1006/bbrc.1994.2029" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8048912">MacKay et al. (1994)</a> isolated and cloned PC cDNA from human kidney. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8048912+7918683" 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="Carbone, M. A., MacKay, N., Ling, M., Cole, D. E. C., Douglas, C., Rigat, B., Feigenbaum, A., Clarke, J. T. R., Haworth, J. C., Greenberg, C. R., Seargeant, L., Robinson, B. H. <strong>Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations.</strong> Am. J. Hum. Genet. 62: 1312-1319, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9585612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9585612</a>] [<a href="https://doi.org/10.1086/301884" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9585612">Carbone et al. (1998)</a> characterized the PC gene by PCR amplification, subcloning, and sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9585612" 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="#4" class="mim-tip-reference" title="Carbone, M. A., MacKay, N., Ling, M., Cole, D. E. C., Douglas, C., Rigat, B., Feigenbaum, A., Clarke, J. T. R., Haworth, J. C., Greenberg, C. R., Seargeant, L., Robinson, B. H. <strong>Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations.</strong> Am. J. Hum. Genet. 62: 1312-1319, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9585612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9585612</a>] [<a href="https://doi.org/10.1086/301884" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9585612">Carbone et al. (1998)</a> determined that the PC gene contains 19 exons spanning approximately 16 kb of genomic DNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9585612" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using Southern blotting of human-Chinese hamster somatic cell hybrids, <a href="#6" class="mim-tip-reference" title="Freytag, S. O., Collier, K. J. <strong>Molecular cloning of a cDNA for human pyruvate carboxylase: structural relationship to other biotin-containing carboxylases and regulation of mRNA content in differentiating preadipocytes.</strong> J. Biol. Chem. 259: 12831-12837, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6548474/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6548474</a>]" pmid="6548474">Freytag and Collier (1984)</a> localized the PC gene to the long arm of chromosome 11. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6548474" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Rochelle, J. M., Watson, M. L., Oakey, R. J., Seldin, M. F. <strong>A linkage map of mouse chromosome 19: definition of comparative mapping relationships with human chromosomes 10 and 11 including the MEN1 locus.</strong> Genomics 14: 26-31, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1358795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1358795</a>] [<a href="https://doi.org/10.1016/s0888-7543(05)80278-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1358795">Rochelle et al. (1992)</a> indicated that the corresponding locus in the mouse is located on chromosome 19 near the centromere. Comparative mapping suggested that the human PC locus is in the proximal part of 11q, perhaps 11q12-q13. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1358795" 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 fluorescence in situ hybridization to normal chromosomes and chromosomes carrying the FRA11A fragile site (see <a href="/entry/616109">616109</a>), <a href="#12" class="mim-tip-reference" title="Walker, M. E., Baker, E., Wallace, J. C., Sutherland, G. R. <strong>Assignment of the human pyruvate carboxylase gene (PC) to 11q13.4 by fluorescence in situ hybridisation.</strong> Cytogenet. Cell Genet. 69: 187-189, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7698008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7698008</a>] [<a href="https://doi.org/10.1159/000133958" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7698008">Walker et al. (1995)</a> mapped PC to 11q13, distal to FRA11A, thus localizing it to 11q13.4-q13.5. <a href="#10" class="mim-tip-reference" title="Perucca-Lostanlen, D., Hecht, B. K., Courseaux, A., Grosgeorge, J., Hecht, F., Gaudray, P. <strong>Mapping FRA11A, a folate-sensitive fragile site in human chromosome band 11q13.3.</strong> Cytogenet. Cell Genet. 79: 88-91, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9533019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9533019</a>] [<a href="https://doi.org/10.1159/000134689" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9533019">Perucca-Lostanlen et al. (1997)</a> used fluorescence in situ hybridization with yeast artificial chromosome and cosmid probes on metaphase chromosomes of patients expressing the fragile site to show that FRA11A is situated centromeric to ACTN3 (<a href="/entry/102574">102574</a>) and telomeric to D11S913, these markers being within an interval of approximately 1 Mb in the 11q13.3 region. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7698008+9533019" 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 11 Ojibwa and 2 Cree patients with group A pyruvate carboxylase deficiency (<a href="/entry/266150">266150</a>), <a href="#4" class="mim-tip-reference" title="Carbone, M. A., MacKay, N., Ling, M., Cole, D. E. C., Douglas, C., Rigat, B., Feigenbaum, A., Clarke, J. T. R., Haworth, J. C., Greenberg, C. R., Seargeant, L., Robinson, B. H. <strong>Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations.</strong> Am. J. Hum. Genet. 62: 1312-1319, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9585612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9585612</a>] [<a href="https://doi.org/10.1086/301884" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9585612">Carbone et al. (1998)</a> identified a missense mutation in the PC gene (<a href="#0001">608786.0001</a>). In 2 brothers of Micmac origin, they identified a transversion mutation in the PC gene (<a href="#0002">608786.0002</a>). Carrier frequency was estimated to be as high as 1 in 10 in some groupings. The 2 point mutations were located in the region of homology conserved among yeast, rat, and human PC, in the vicinity of the carboxylation domain of the enzyme. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9585612" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a study of 1,751 knockout alleles created by the International Mouse Phenotyping Consortium (IMPC), <a href="#5" class="mim-tip-reference" title="Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others. <strong>High-throughput discovery of novel developmental phenotypes.</strong> Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27626380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27626380</a>] [<a href="https://doi.org/10.1038/nature19356" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27626380">Dickinson et al. (2016)</a> found that knockout of the mouse homolog of human PC is homozygous-lethal (defined as absence of homozygous mice after screening of at least 28 pups before weaning). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27626380" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Brun, N., Robitaille, Y., Grignon, A., Robinson, B. H., Mitchell, G. A., Lambert, M. <strong>Pyruvate carboxylase deficiency: prenatal onset of ischemia-like brain lesions in two sibs with the acute neonatal form.</strong> Am. J. Med. Genet. 84: 94-101, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10323732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10323732</a>]" pmid="10323732">Brun et al. (1999)</a> referred to pyruvate carboxylase as a key enzyme in the gluconeogenesis and anaplerotic metabolic pathways. Anaplerotic is a somewhat archaic term derived from the Greek stems ana, meaning 'for up,' and plerotic, meaning 'for filling.' The adjective anaplerotic refers to a reaction that effects best the formation of an intermediate of the tricarboxylic acid cycle, in order to maintain the intracellular concentration of it, or of another such intermediate, as those intermediates are utilized for biosynthesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10323732" 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>9 Selected Examples</a>):</strong>
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</h4>
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<p />
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<div id="mimAllelicVariantsFold" class="collapse in mimTextToggleFold">
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<div>
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<a href="/allelicVariants/608786" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=608786[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>
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<p />
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<a id="0001" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0001 PYRUVATE CARBOXYLASE DEFICIENCY</strong>
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</span>
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</h4>
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</div>
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PC, ALA610THR
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</span>
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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> rs28940589 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28940589;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/rs28940589?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=rs28940589" 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=rs28940589" 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=RCV000002175" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002175" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002175</a>
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</span>
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</div>
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<span class="mim-text-font">
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<p>In 11 Ojibwa and 2 Cree Amerindian patients with simple pyruvate carboxylase deficiency (<a href="/entry/266150">266150</a>), <a href="#4" class="mim-tip-reference" title="Carbone, M. A., MacKay, N., Ling, M., Cole, D. E. C., Douglas, C., Rigat, B., Feigenbaum, A., Clarke, J. T. R., Haworth, J. C., Greenberg, C. R., Seargeant, L., Robinson, B. H. <strong>Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations.</strong> Am. J. Hum. Genet. 62: 1312-1319, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9585612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9585612</a>] [<a href="https://doi.org/10.1086/301884" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9585612">Carbone et al. (1998)</a> identified a homozygous 1828G-A transition in the PC gene, resulting in an ala610-to-thr (A610T) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9585612" 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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<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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<a id="0002" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0002 PYRUVATE CARBOXYLASE DEFICIENCY</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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<div style="float: left;">
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PC, MET743ILE
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28940590 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28940590;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=rs28940590" 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=rs28940590" 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=RCV000002176" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002176" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002176</a>
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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 2 Micmac brothers from Nova Scotia with simple pyruvate carboxylase deficiency (<a href="/entry/266150">266150</a>), <a href="#4" class="mim-tip-reference" title="Carbone, M. A., MacKay, N., Ling, M., Cole, D. E. C., Douglas, C., Rigat, B., Feigenbaum, A., Clarke, J. T. R., Haworth, J. C., Greenberg, C. R., Seargeant, L., Robinson, B. H. <strong>Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations.</strong> Am. J. Hum. Genet. 62: 1312-1319, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9585612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9585612</a>] [<a href="https://doi.org/10.1086/301884" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9585612">Carbone et al. (1998)</a> identified a 2229G-T transversion in the PC gene, resulting in a met743-to-ile (M743I) substitution in the carboxylation domain of the enzyme. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9585612" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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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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<a id="0003" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0003 PYRUVATE CARBOXYLASE DEFICIENCY</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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<div style="float: left;">
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PC, VAL145ALA
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</div>
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</span>
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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> rs28940591 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28940591;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/rs28940591?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=rs28940591" 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=rs28940591" 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=RCV000002177" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002177" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002177</a>
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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 affected members of a consanguineous family with pyruvate carboxylase deficiency (<a href="/entry/266150">266150</a>), <a href="#14" class="mim-tip-reference" title="Wexler, I. D., Kerr, D. S., Du, Y., Kaung, M. M., Stephenson, W., Lusk, M. M., Wappner, R. S., Higgins, J. J. <strong>Molecular characterization of pyruvate carboxylase deficiency in two consanguineous families.</strong> Pediat. Res. 43: 579-584, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9585002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9585002</a>] [<a href="https://doi.org/10.1203/00006450-199805000-00004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9585002">Wexler et al. (1998)</a> identified a homozygous 434T-C transition in the PC gene, resulting in a val145-to-ala (V145A) substitution. Both parents were heterozygous for the mutation. The patients were found to have low PC activity (range 2-25% of control) in blood lymphocytes and skin fibroblasts associated with either diminished or normal protein levels. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9585002" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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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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<a id="0004" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<strong>.0004 PYRUVATE CARBOXYLASE DEFICIENCY</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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<div style="float: left;">
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PC, ARG451CYS
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs113994143 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs113994143;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=rs113994143" 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=rs113994143" 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=RCV000002178" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002178" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002178</a>
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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 affected brother and sister from a consanguineous family with pyruvate carboxylase deficiency (<a href="/entry/266150">266150</a>), <a href="#14" class="mim-tip-reference" title="Wexler, I. D., Kerr, D. S., Du, Y., Kaung, M. M., Stephenson, W., Lusk, M. M., Wappner, R. S., Higgins, J. J. <strong>Molecular characterization of pyruvate carboxylase deficiency in two consanguineous families.</strong> Pediat. Res. 43: 579-584, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9585002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9585002</a>] [<a href="https://doi.org/10.1203/00006450-199805000-00004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9585002">Wexler et al. (1998)</a> identified a homozygous 1351C-T transition the PC gene, resulting in an arg451-to-cys (R451C) substitution. Both parents were heterozygous for the mutation. Both mutations occurred in relatively conserved amino acid residues and were located in the biotin carboxylase domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9585002" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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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="0005" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0005 PYRUVATE CARBOXYLASE DEFICIENCY</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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<div style="float: left;">
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PC, IVS15, 4-BP DEL, TAGG, +2-5
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2135813862 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2135813862;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=rs2135813862" 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=rs2135813862" 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=RCV000002179" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002179" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002179</a>
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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 2 brothers with severe (type B) pyruvate carboxylase deficiency (<a href="/entry/266150">266150</a>), <a href="#3" class="mim-tip-reference" title="Carbone, M. A., Applegarth, D. A., Robinson, B. H. <strong>Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings.</strong> Hum. Mutat. 20: 48-56, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12112657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12112657</a>] [<a href="https://doi.org/10.1002/humu.10093" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12112657">Carbone et al. (2002)</a> found compound heterozygosity for 2 mutations in the PC gene: a TAGG deletion at the exon 15/intron 15 splice site (IVS15+2-5delTAGG) and a dinucleotide deletion in exon 16 (2491_2492delGT; <a href="#0006">608786.0006</a>). By RT-PCR and sequencing of aberrant transcripts, <a href="#3" class="mim-tip-reference" title="Carbone, M. A., Applegarth, D. A., Robinson, B. H. <strong>Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings.</strong> Hum. Mutat. 20: 48-56, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12112657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12112657</a>] [<a href="https://doi.org/10.1002/humu.10093" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12112657">Carbone et al. (2002)</a> found that the splice site mutation resulted in the retention of intron 15 during pre-mRNA splicing. In addition, both deletions were predicted to result in a frameshift to generate a premature termination codon such that the encoded mRNA would be subject to nonsense-mediated decay. In 1 brother, the diagnosis was made at the age of 4 hours and death occurred at 7 weeks; in the younger brother, the diagnosis was made in the fetus and death was in the neonatal period. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12112657" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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<div>
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<div>
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<div>
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<a id="0006" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0006 PYRUVATE CARBOXYLASE DEFICIENCY</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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PC, 2-BP DEL, 2491GT
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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> rs756355930 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs756355930;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/rs756355930?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=rs756355930" 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=rs756355930" 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=RCV000672343" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000672343" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000672343</a>
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<p>For discussion of the dinucleotide deletion in exon 16 (2491_2492delGT) of the PC gene that was found in compound heterozygous state in 2 brothers with severe (type B) pyruvate carboxylase deficiency (<a href="/entry/266150">266150</a>) by <a href="#3" class="mim-tip-reference" title="Carbone, M. A., Applegarth, D. A., Robinson, B. H. <strong>Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings.</strong> Hum. Mutat. 20: 48-56, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12112657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12112657</a>] [<a href="https://doi.org/10.1002/humu.10093" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12112657">Carbone et al. (2002)</a>, see (<a href="#0005">608786.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12112657" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span class="mim-font">
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<strong>.0007 PYRUVATE CARBOXYLASE DEFICIENCY</strong>
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PC, ARG156GLN
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs119103241 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs119103241;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=rs119103241" 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=rs119103241" 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=RCV000002181" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002181" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002181</a>
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<p>In a patient with type A pyruvate carboxylase deficiency (<a href="/entry/266150">266150</a>), <a href="#9" class="mim-tip-reference" title="Monnot, S., Serre, V., Chadefaux-Vekemans, B., Aupetit, J., Romano, S., De Lonlay, P., Rival, J.-M., Munnich, A., Steffann, J., Bonnefont, J.-P. <strong>Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.</strong> Hum. Mutat. 30: 734-740, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19306334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19306334</a>] [<a href="https://doi.org/10.1002/humu.20908" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19306334">Monnot et al. (2009)</a> identified a homozygous 467G-A transition in exon 3 of the PC gene, resulting in an arg156-to-gln (R156Q) substitution in the biotin carboxylase domain. The mutation had no detectable effect on mRNA size or amount. <a href="#9" class="mim-tip-reference" title="Monnot, S., Serre, V., Chadefaux-Vekemans, B., Aupetit, J., Romano, S., De Lonlay, P., Rival, J.-M., Munnich, A., Steffann, J., Bonnefont, J.-P. <strong>Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.</strong> Hum. Mutat. 30: 734-740, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19306334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19306334</a>] [<a href="https://doi.org/10.1002/humu.20908" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19306334">Monnot et al. (2009)</a> observed that the relatively milder type A phenotype results from missense mutations in the PC gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19306334" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0008" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0008 PYRUVATE CARBOXYLASE DEFICIENCY</strong>
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</span>
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</h4>
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PC, ARG583LEU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs119103242 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs119103242;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=rs119103242" 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=rs119103242" 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=RCV000002182" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002182" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002182</a>
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<p>In a patient with type B pyruvate carboxylase deficiency (<a href="/entry/266150">266150</a>), <a href="#9" class="mim-tip-reference" title="Monnot, S., Serre, V., Chadefaux-Vekemans, B., Aupetit, J., Romano, S., De Lonlay, P., Rival, J.-M., Munnich, A., Steffann, J., Bonnefont, J.-P. <strong>Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.</strong> Hum. Mutat. 30: 734-740, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19306334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19306334</a>] [<a href="https://doi.org/10.1002/humu.20908" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19306334">Monnot et al. (2009)</a> identified compound heterozygosity for 2 mutations in the PC gene: a 1748G-T transversion in exon 12, resulting in an arg583-to-leu (R583L) substitution in the carboxytransferase domain, and a 1-bp duplication in exon 17 (2876dupT; <a href="#0009">608786.0009</a>), resulting in a frameshift, nonsense-mediated mRNA decay, and no functional protein. The R583L mutation had no detectable effect on mRNA size or amount. <a href="#9" class="mim-tip-reference" title="Monnot, S., Serre, V., Chadefaux-Vekemans, B., Aupetit, J., Romano, S., De Lonlay, P., Rival, J.-M., Munnich, A., Steffann, J., Bonnefont, J.-P. <strong>Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.</strong> Hum. Mutat. 30: 734-740, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19306334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19306334</a>] [<a href="https://doi.org/10.1002/humu.20908" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19306334">Monnot et al. (2009)</a> commented that patients with the relatively more severe type B tend to have at least 1 truncating mutation in the PC gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19306334" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0009" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0009 PYRUVATE CARBOXYLASE DEFICIENCY</strong>
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PC, 1-BP DUP, 2876T
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1565209327 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1565209327;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=rs1565209327" 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=rs1565209327" 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=RCV000002183" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002183" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002183</a>
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<p>For discussion of the 1-bp duplication (2876dupT) in exon 17 of the PC gene that was found in a patient with type B pyruvate carboxylase deficiency (<a href="/entry/266150">266150</a>) by <a href="#9" class="mim-tip-reference" title="Monnot, S., Serre, V., Chadefaux-Vekemans, B., Aupetit, J., Romano, S., De Lonlay, P., Rival, J.-M., Munnich, A., Steffann, J., Bonnefont, J.-P. <strong>Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.</strong> Hum. Mutat. 30: 734-740, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19306334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19306334</a>] [<a href="https://doi.org/10.1002/humu.20908" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19306334">Monnot et al. (2009)</a>, see <a href="#0008">608786.0008</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19306334" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="seeAlso" class="mim-anchor"></a>
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<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<strong>See Also:</strong>
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<a href="#Freytag1984" class="mim-tip-reference" title="Freytag, S. O., Ledbetter, D. H., Collier, K., Gage, P. <strong>Cloning of the human pyruvate carboxylase gene. (Abstract)</strong> Fed. Proc. 43: 1726, 1984.">Freytag et al. (1984)</a>
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<strong>REFERENCES</strong>
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<li>
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<a id="1" class="mim-anchor"></a>
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<a id="Barden1975" class="mim-anchor"></a>
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Barden, R. E., Taylor, B. L., Isohashi, F., Frey, W. H., II, Zander, G., Lee, J. C., Utter, M. F.
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<strong>Structural properties of pyruvate carboxylases from chicken liver and other sources.</strong>
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Proc. Nat. Acad. Sci. 72: 4308-4312, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1105579/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1105579</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1105579" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.72.11.4308" target="_blank">Full Text</a>]
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<a id="Brun1999" class="mim-anchor"></a>
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Brun, N., Robitaille, Y., Grignon, A., Robinson, B. H., Mitchell, G. A., Lambert, M.
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<strong>Pyruvate carboxylase deficiency: prenatal onset of ischemia-like brain lesions in two sibs with the acute neonatal form.</strong>
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Am. J. Med. Genet. 84: 94-101, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10323732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10323732</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10323732" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Carbone2002" class="mim-anchor"></a>
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Carbone, M. A., Applegarth, D. A., Robinson, B. H.
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<strong>Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings.</strong>
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Hum. Mutat. 20: 48-56, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12112657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12112657</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12112657" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.10093" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
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<a id="Carbone1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Carbone, M. A., MacKay, N., Ling, M., Cole, D. E. C., Douglas, C., Rigat, B., Feigenbaum, A., Clarke, J. T. R., Haworth, J. C., Greenberg, C. R., Seargeant, L., Robinson, B. H.
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<strong>Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations.</strong>
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Am. J. Hum. Genet. 62: 1312-1319, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9585612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9585612</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9585612" 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/10.1086/301884" target="_blank">Full Text</a>]
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</p>
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<a id="5" class="mim-anchor"></a>
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<a id="Dickinson2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others.
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<strong>High-throughput discovery of novel developmental phenotypes.</strong>
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Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27626380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27626380</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27626380" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nature19356" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="Freytag1984" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Freytag, S. O., Collier, K. J.
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<strong>Molecular cloning of a cDNA for human pyruvate carboxylase: structural relationship to other biotin-containing carboxylases and regulation of mRNA content in differentiating preadipocytes.</strong>
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J. Biol. Chem. 259: 12831-12837, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6548474/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6548474</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6548474" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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<a id="7" class="mim-anchor"></a>
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<a id="Freytag1984" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Freytag, S. O., Ledbetter, D. H., Collier, K., Gage, P.
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<strong>Cloning of the human pyruvate carboxylase gene. (Abstract)</strong>
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Fed. Proc. 43: 1726, 1984.
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<a id="8" class="mim-anchor"></a>
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<a id="MacKay1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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MacKay, N., Rigat, B., Douglas, C., Chen, H. S., Robinson, B. H.
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<strong>cDNA cloning of human kidney pyruvate carboxylase.</strong>
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Biochem. Biophys. Res. Commun. 202: 1009-1014, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8048912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8048912</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8048912" 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/10.1006/bbrc.1994.2029" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Monnot2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Monnot, S., Serre, V., Chadefaux-Vekemans, B., Aupetit, J., Romano, S., De Lonlay, P., Rival, J.-M., Munnich, A., Steffann, J., Bonnefont, J.-P.
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<strong>Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.</strong>
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Hum. Mutat. 30: 734-740, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19306334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19306334</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19306334" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.20908" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Perucca-Lostanlen1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Perucca-Lostanlen, D., Hecht, B. K., Courseaux, A., Grosgeorge, J., Hecht, F., Gaudray, P.
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<strong>Mapping FRA11A, a folate-sensitive fragile site in human chromosome band 11q13.3.</strong>
|
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Cytogenet. Cell Genet. 79: 88-91, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9533019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9533019</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9533019" 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/10.1159/000134689" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Rochelle1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rochelle, J. M., Watson, M. L., Oakey, R. J., Seldin, M. F.
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<strong>A linkage map of mouse chromosome 19: definition of comparative mapping relationships with human chromosomes 10 and 11 including the MEN1 locus.</strong>
|
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Genomics 14: 26-31, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1358795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1358795</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1358795" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0888-7543(05)80278-2" target="_blank">Full Text</a>]
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Walker1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Walker, M. E., Baker, E., Wallace, J. C., Sutherland, G. R.
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<strong>Assignment of the human pyruvate carboxylase gene (PC) to 11q13.4 by fluorescence in situ hybridisation.</strong>
|
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Cytogenet. Cell Genet. 69: 187-189, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7698008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7698008</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7698008" 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/10.1159/000133958" target="_blank">Full Text</a>]
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<a id="13" class="mim-anchor"></a>
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<a id="Wexler1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wexler, I. D., Du, Y., Lisgaris, M. V., Mandal, S. K., Freytag, S. O., Yang, B.-S., Liu, T.-C., Kwon, M., Patel, M. S., Kerr, D. S.
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<strong>Primary amino acid sequence and structure of human pyruvate carboxylase.</strong>
|
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Biochim. Biophys. Acta 1227: 46-52, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7918683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7918683</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7918683" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0925-4439(94)90105-8" target="_blank">Full Text</a>]
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<a id="14" class="mim-anchor"></a>
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<a id="Wexler1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wexler, I. D., Kerr, D. S., Du, Y., Kaung, M. M., Stephenson, W., Lusk, M. M., Wappner, R. S., Higgins, J. J.
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<strong>Molecular characterization of pyruvate carboxylase deficiency in two consanguineous families.</strong>
|
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Pediat. Res. 43: 579-584, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9585002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9585002</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9585002" 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/10.1203/00006450-199805000-00004" target="_blank">Full Text</a>]
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<br />
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 02/17/2017
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 8/18/2009
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</span>
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</div>
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</div>
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</div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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<div 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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Cassandra L. Kniffin : 7/9/2004
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<a id="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<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 : 02/05/2018
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 09/08/2017<br>carol : 02/20/2017<br>alopez : 02/17/2017<br>carol : 12/15/2014<br>wwang : 9/4/2009<br>ckniffin : 8/18/2009<br>terry : 2/10/2005<br>carol : 7/13/2004<br>ckniffin : 7/12/2004
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</span>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 608786
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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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PYRUVATE CARBOXYLASE; PC
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: PC</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>SNOMEDCT:</strong> 87694001;
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<strong>ICD10CM:</strong> E74.4;
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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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<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: 11q13.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 11:66,848,420-66,958,383 </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>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
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<th>
|
|
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">
|
|
11q13.2
|
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</span>
|
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</td>
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|
|
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<td>
|
|
<span class="mim-font">
|
|
Pyruvate carboxylase deficiency
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
266150
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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">
|
|
<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Pyruvate carboxylase (EC 6.4.1.1) is a nuclear-encoded mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate. It is a key regulatory enzyme in gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Human PC is a tetramer composed of identical subunits (Barden et al., 1975). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using an oligonucleotide probe specific for the amino acid sequence at the biotin site of pyruvate carboxylase to screen a human liver cDNA library, Freytag and Collier (1984) isolated 3 cDNA clones for pyruvate carboxylase. Northern blot analysis detected a 4.2-kb mRNA. </p><p>Wexler et al. (1994) isolated a PC cDNA, which encodes a deduced 1,178-amino acid protein with a molecular mass of 129.6 kD for the full-length precursor and 127.4 kD for the mature apoprotein. Northern blot analysis demonstrated that the highest level of PC mRNA is in the liver. Based on homology with other biotin-containing proteins, the ATP, pyruvate, and biotin-binding sites were identified. MacKay et al. (1994) isolated and cloned PC cDNA from human kidney. </p><p>Carbone et al. (1998) characterized the PC gene by PCR amplification, subcloning, and sequencing. </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>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</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>Carbone et al. (1998) determined that the PC gene contains 19 exons spanning approximately 16 kb of genomic DNA. </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">
|
|
<strong>Mapping</strong>
|
|
</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Using Southern blotting of human-Chinese hamster somatic cell hybrids, Freytag and Collier (1984) localized the PC gene to the long arm of chromosome 11. </p><p>Rochelle et al. (1992) indicated that the corresponding locus in the mouse is located on chromosome 19 near the centromere. Comparative mapping suggested that the human PC locus is in the proximal part of 11q, perhaps 11q12-q13. </p><p>Using fluorescence in situ hybridization to normal chromosomes and chromosomes carrying the FRA11A fragile site (see 616109), Walker et al. (1995) mapped PC to 11q13, distal to FRA11A, thus localizing it to 11q13.4-q13.5. Perucca-Lostanlen et al. (1997) used fluorescence in situ hybridization with yeast artificial chromosome and cosmid probes on metaphase chromosomes of patients expressing the fragile site to show that FRA11A is situated centromeric to ACTN3 (102574) and telomeric to D11S913, these markers being within an interval of approximately 1 Mb in the 11q13.3 region. </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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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|
<span class="mim-text-font">
|
|
<p>In 11 Ojibwa and 2 Cree patients with group A pyruvate carboxylase deficiency (266150), Carbone et al. (1998) identified a missense mutation in the PC gene (608786.0001). In 2 brothers of Micmac origin, they identified a transversion mutation in the PC gene (608786.0002). Carrier frequency was estimated to be as high as 1 in 10 in some groupings. The 2 point mutations were located in the region of homology conserved among yeast, rat, and human PC, in the vicinity of the carboxylation domain of the enzyme. </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>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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|
|
<span class="mim-text-font">
|
|
<p>In a study of 1,751 knockout alleles created by the International Mouse Phenotyping Consortium (IMPC), Dickinson et al. (2016) found that knockout of the mouse homolog of human PC is homozygous-lethal (defined as absence of homozygous mice after screening of at least 28 pups before weaning). </p>
|
|
</span>
|
|
<div>
|
|
<br />
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</div>
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<div>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Nomenclature</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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|
<span class="mim-text-font">
|
|
<p>Brun et al. (1999) referred to pyruvate carboxylase as a key enzyme in the gluconeogenesis and anaplerotic metabolic pathways. Anaplerotic is a somewhat archaic term derived from the Greek stems ana, meaning 'for up,' and plerotic, meaning 'for filling.' The adjective anaplerotic refers to a reaction that effects best the formation of an intermediate of the tricarboxylic acid cycle, in order to maintain the intracellular concentration of it, or of another such intermediate, as those intermediates are utilized for biosynthesis. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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|
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|
|
|
|
|
</div>
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|
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|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>9 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 PYRUVATE CARBOXYLASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PC, ALA610THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28940589,
|
|
|
|
|
|
gnomAD: rs28940589,
|
|
|
|
|
|
ClinVar: RCV000002175
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 11 Ojibwa and 2 Cree Amerindian patients with simple pyruvate carboxylase deficiency (266150), Carbone et al. (1998) identified a homozygous 1828G-A transition in the PC gene, resulting in an ala610-to-thr (A610T) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 PYRUVATE CARBOXYLASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PC, MET743ILE
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28940590,
|
|
|
|
|
|
|
|
ClinVar: RCV000002176
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 Micmac brothers from Nova Scotia with simple pyruvate carboxylase deficiency (266150), Carbone et al. (1998) identified a 2229G-T transversion in the PC gene, resulting in a met743-to-ile (M743I) substitution in the carboxylation domain of the enzyme. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 PYRUVATE CARBOXYLASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PC, VAL145ALA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28940591,
|
|
|
|
|
|
gnomAD: rs28940591,
|
|
|
|
|
|
ClinVar: RCV000002177
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a consanguineous family with pyruvate carboxylase deficiency (266150), Wexler et al. (1998) identified a homozygous 434T-C transition in the PC gene, resulting in a val145-to-ala (V145A) substitution. Both parents were heterozygous for the mutation. The patients were found to have low PC activity (range 2-25% of control) in blood lymphocytes and skin fibroblasts associated with either diminished or normal protein levels. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 PYRUVATE CARBOXYLASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PC, ARG451CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs113994143,
|
|
|
|
|
|
|
|
ClinVar: RCV000002178
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an affected brother and sister from a consanguineous family with pyruvate carboxylase deficiency (266150), Wexler et al. (1998) identified a homozygous 1351C-T transition the PC gene, resulting in an arg451-to-cys (R451C) substitution. Both parents were heterozygous for the mutation. Both mutations occurred in relatively conserved amino acid residues and were located in the biotin carboxylase domain. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 PYRUVATE CARBOXYLASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PC, IVS15, 4-BP DEL, TAGG, +2-5
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2135813862,
|
|
|
|
|
|
|
|
ClinVar: RCV000002179
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 brothers with severe (type B) pyruvate carboxylase deficiency (266150), Carbone et al. (2002) found compound heterozygosity for 2 mutations in the PC gene: a TAGG deletion at the exon 15/intron 15 splice site (IVS15+2-5delTAGG) and a dinucleotide deletion in exon 16 (2491_2492delGT; 608786.0006). By RT-PCR and sequencing of aberrant transcripts, Carbone et al. (2002) found that the splice site mutation resulted in the retention of intron 15 during pre-mRNA splicing. In addition, both deletions were predicted to result in a frameshift to generate a premature termination codon such that the encoded mRNA would be subject to nonsense-mediated decay. In 1 brother, the diagnosis was made at the age of 4 hours and death occurred at 7 weeks; in the younger brother, the diagnosis was made in the fetus and death was in the neonatal period. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 PYRUVATE CARBOXYLASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PC, 2-BP DEL, 2491GT
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs756355930,
|
|
|
|
|
|
gnomAD: rs756355930,
|
|
|
|
|
|
ClinVar: RCV000672343
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the dinucleotide deletion in exon 16 (2491_2492delGT) of the PC gene that was found in compound heterozygous state in 2 brothers with severe (type B) pyruvate carboxylase deficiency (266150) by Carbone et al. (2002), see (608786.0005). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 PYRUVATE CARBOXYLASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PC, ARG156GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs119103241,
|
|
|
|
|
|
|
|
ClinVar: RCV000002181
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with type A pyruvate carboxylase deficiency (266150), Monnot et al. (2009) identified a homozygous 467G-A transition in exon 3 of the PC gene, resulting in an arg156-to-gln (R156Q) substitution in the biotin carboxylase domain. The mutation had no detectable effect on mRNA size or amount. Monnot et al. (2009) observed that the relatively milder type A phenotype results from missense mutations in the PC gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 PYRUVATE CARBOXYLASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PC, ARG583LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs119103242,
|
|
|
|
|
|
|
|
ClinVar: RCV000002182
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with type B pyruvate carboxylase deficiency (266150), Monnot et al. (2009) identified compound heterozygosity for 2 mutations in the PC gene: a 1748G-T transversion in exon 12, resulting in an arg583-to-leu (R583L) substitution in the carboxytransferase domain, and a 1-bp duplication in exon 17 (2876dupT; 608786.0009), resulting in a frameshift, nonsense-mediated mRNA decay, and no functional protein. The R583L mutation had no detectable effect on mRNA size or amount. Monnot et al. (2009) commented that patients with the relatively more severe type B tend to have at least 1 truncating mutation in the PC gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 PYRUVATE CARBOXYLASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PC, 1-BP DUP, 2876T
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1565209327,
|
|
|
|
|
|
|
|
ClinVar: RCV000002183
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 1-bp duplication (2876dupT) in exon 17 of the PC gene that was found in a patient with type B pyruvate carboxylase deficiency (266150) by Monnot et al. (2009), see 608786.0008. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
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<span class="mim-text-font">
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Freytag et al. (1984)
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Carbone, M. A., MacKay, N., Ling, M., Cole, D. E. C., Douglas, C., Rigat, B., Feigenbaum, A., Clarke, J. T. R., Haworth, J. C., Greenberg, C. R., Seargeant, L., Robinson, B. H.
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Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others.
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<strong>Molecular cloning of a cDNA for human pyruvate carboxylase: structural relationship to other biotin-containing carboxylases and regulation of mRNA content in differentiating preadipocytes.</strong>
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Freytag, S. O., Ledbetter, D. H., Collier, K., Gage, P.
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<strong>Cloning of the human pyruvate carboxylase gene. (Abstract)</strong>
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Fed. Proc. 43: 1726, 1984.
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MacKay, N., Rigat, B., Douglas, C., Chen, H. S., Robinson, B. H.
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<strong>cDNA cloning of human kidney pyruvate carboxylase.</strong>
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Biochem. Biophys. Res. Commun. 202: 1009-1014, 1994.
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Monnot, S., Serre, V., Chadefaux-Vekemans, B., Aupetit, J., Romano, S., De Lonlay, P., Rival, J.-M., Munnich, A., Steffann, J., Bonnefont, J.-P.
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Perucca-Lostanlen, D., Hecht, B. K., Courseaux, A., Grosgeorge, J., Hecht, F., Gaudray, P.
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<strong>Mapping FRA11A, a folate-sensitive fragile site in human chromosome band 11q13.3.</strong>
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Rochelle, J. M., Watson, M. L., Oakey, R. J., Seldin, M. F.
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<strong>A linkage map of mouse chromosome 19: definition of comparative mapping relationships with human chromosomes 10 and 11 including the MEN1 locus.</strong>
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Walker, M. E., Baker, E., Wallace, J. C., Sutherland, G. R.
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<strong>Assignment of the human pyruvate carboxylase gene (PC) to 11q13.4 by fluorescence in situ hybridisation.</strong>
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Cytogenet. Cell Genet. 69: 187-189, 1995.
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</p>
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<p class="mim-text-font">
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Wexler, I. D., Du, Y., Lisgaris, M. V., Mandal, S. K., Freytag, S. O., Yang, B.-S., Liu, T.-C., Kwon, M., Patel, M. S., Kerr, D. S.
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<strong>Primary amino acid sequence and structure of human pyruvate carboxylase.</strong>
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Biochim. Biophys. Acta 1227: 46-52, 1994.
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[PubMed: 7918683]
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[Full Text: https://doi.org/10.1016/0925-4439(94)90105-8]
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Wexler, I. D., Kerr, D. S., Du, Y., Kaung, M. M., Stephenson, W., Lusk, M. M., Wappner, R. S., Higgins, J. J.
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<strong>Molecular characterization of pyruvate carboxylase deficiency in two consanguineous families.</strong>
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Pediat. Res. 43: 579-584, 1998.
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[PubMed: 9585002]
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[Full Text: https://doi.org/10.1203/00006450-199805000-00004]
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Ada Hamosh - updated : 02/17/2017<br>Cassandra L. Kniffin - updated : 8/18/2009
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