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Entry
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- *300474 - GLYCEROL KINASE; GK
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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">*300474</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/300474">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000198814;t=ENST00000427190" 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=2710" 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=300474" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000198814;t=ENST00000427190" 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_000167,NM_001128127,NM_001205019,NM_001399987,NM_203391,NR_174369,NR_174370,NR_174371,NR_174372,NR_174373,NR_174374,NR_174375,XM_006724483,XM_011545491,XM_011545492" 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_001205019" 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=300474" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=08363&isoform_id=08363_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/GK" 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/38414,348167,871290,4504007,5834426,5834427,5834428,23337050,27502930,42794763,47938126,119619459,119619460,119619461,119619462,189053778,189409120,194376878,194378928,205830913,259661121,259664754,300569746,300659418,326381123,578837869,768032240,768032244,2180935821,2462628984,2462628986,2462628988" 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/P32189" 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=2710" 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=ENSG00000198814;t=ENST00000427190" 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=GK" 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=GK" 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+2710" 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/GK" 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:2710" 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/2710" 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=chrX&hgg_gene=ENST00000427190.6&hgg_start=30653423&hgg_end=30731462&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:4289" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:4289" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=300474[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=300474[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/GK/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/ENSG00000198814" 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.gwascentral.org/search?q=GK" 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=GK" 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="http://www.LOVD.nl/GK" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=GK&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/PA28700" 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:4289" 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/FBgn0025592.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/search?q=MGI:106594 MGI:891990" 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/GK#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/batch/summary?idType=MGI&ids=MGI:106594 MGI:891990" 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/2710/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=2710" 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=WBGene00020007;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>
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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:2710" 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=GK&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> 124322002<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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300474
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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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GLYCEROL KINASE; GK
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
ATP:GLYCEROL PHOSPHOTRANSFERASE
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=GK" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">GK</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>
|
|
Cytogenetic location: <a href="/geneMap/X/146?start=-3&limit=10&highlight=146">Xp21.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chrX:30653423-30731462&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'})">X:30,653,423-30,731,462</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">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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</tr>
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</thead>
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<tbody>
|
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|
<tr>
|
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<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/146?start=-3&limit=10&highlight=146">
|
|
Xp21.2
|
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</a>
|
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</span>
|
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</td>
|
|
|
|
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<td>
|
|
<span class="mim-font">
|
|
Glycerol kinase deficiency
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/307030"> 307030 </a>
|
|
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/300474" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/300474" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
|
</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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<div>
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<br />
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</div>
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<p>Glycerol kinase (<a href="https://enzyme.expasy.org/EC/2.7.1.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 2.7.1.30</a>) catalyzes the phosphorylation of glycerol by ATP, yielding ADP and glycerol-3-phosphate.</p>
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<p><a href="#9" class="mim-tip-reference" title="Sargent, C. A., Affara, N. A., Bentley, E., Pelmear, A., Bailey, D. M. D., Davey, P., Dow, D., Leversha, M., Aplin, H., Besley, G. T. N., Ferguson-Smith, M. A. <strong>Cloning of the X-linked glycerol kinase deficiency gene and its identification by sequence comparison to the Bacillus subtilis homologue.</strong> Hum. Molec. Genet. 2: 97-106, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8499912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8499912</a>] [<a href="https://doi.org/10.1093/hmg/2.2.97" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8499912">Sargent et al. (1993)</a> isolated and sequenced cDNA clones from a human adult testis cDNA library to produce expressed sequence tags (ESTs). Using these ESTs to search DNA and protein sequence databases, <a href="#9" class="mim-tip-reference" title="Sargent, C. A., Affara, N. A., Bentley, E., Pelmear, A., Bailey, D. M. D., Davey, P., Dow, D., Leversha, M., Aplin, H., Besley, G. T. N., Ferguson-Smith, M. A. <strong>Cloning of the X-linked glycerol kinase deficiency gene and its identification by sequence comparison to the Bacillus subtilis homologue.</strong> Hum. Molec. Genet. 2: 97-106, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8499912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8499912</a>] [<a href="https://doi.org/10.1093/hmg/2.2.97" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8499912">Sargent et al. (1993)</a> isolated a cDNA clone that showed 60% identity to the Bacillus subtilis glycerol kinase gene at both the DNA and amino acid sequence levels. Analysis of DNA from somatic cell hybrids carrying deleted X chromosomes showed that this clone detected homologous sequences between Xp22.1-p21.2, the interval containing the locus responsible for glycerol kinase deficiency (GKD; <a href="/entry/307030">307030</a>). In a commentary, <a href="#15" class="mim-tip-reference" title="Willard, H. F. <strong>Cloning of the X-linked glycerol kinase gene.</strong> Hum. Molec. Genet. 2: 95-96, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8499911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8499911</a>] [<a href="https://doi.org/10.1093/hmg/2.2.95" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8499911">Willard (1993)</a> pointed out the usefulness of the EST strategy for cataloging new genes. <a href="#11" class="mim-tip-reference" title="Sargent, C. A., Young, C., Marsh, S., Ferguson-Smith, M. A., Affara, N. A. <strong>The glycerol kinase gene family: structure of the Xp gene, and related intronless retroposons.</strong> Hum. Molec. Genet. 3: 1317-1324, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7987308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7987308</a>] [<a href="https://doi.org/10.1093/hmg/3.8.1317" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7987308">Sargent et al. (1994)</a> reported that Northern blot analysis showed expression of GK transcripts of 3 sizes in a wide range of adult tissues. Only the smallest hybridizing species was present in testis, where it occurred at an elevated level. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8499911+7987308+8499912" 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>Simultaneously and independently, <a href="#13" class="mim-tip-reference" title="Walker, A. P., Muscatelli, F., Monaco, A. P. <strong>Isolation of the human Xp21 glycerol kinase gene by positional cloning.</strong> Hum. Molec. Genet. 2: 107-114, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8499898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8499898</a>] [<a href="https://doi.org/10.1093/hmg/2.2.107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8499898">Walker et al. (1993)</a> used positional cloning to isolate the human Xp21 GK gene. Using exon amplification products prepared from Xp21.3 cosmids mapping in the 50- to 250-kb GK critical region, according to the method of <a href="#1" class="mim-tip-reference" title="Buckler, A. J., Chang, D. D., Graw, S. L., Brook, J. D., Haber, D. A., Sharp, P. A., Housman, D. E. <strong>Exon amplification: a strategy to isolate mammalian genes based on RNA splicing.</strong> Proc. Nat. Acad. Sci. 88: 4005-4009, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1850845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1850845</a>] [<a href="https://doi.org/10.1073/pnas.88.9.4005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1850845">Buckler et al. (1991)</a>, <a href="#13" class="mim-tip-reference" title="Walker, A. P., Muscatelli, F., Monaco, A. P. <strong>Isolation of the human Xp21 glycerol kinase gene by positional cloning.</strong> Hum. Molec. Genet. 2: 107-114, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8499898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8499898</a>] [<a href="https://doi.org/10.1093/hmg/2.2.107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8499898">Walker et al. (1993)</a> screened a fetal liver cDNA library and identified 6 overlapping clones that encoded a partial predicted 395-amino acid protein with significant homology to the bacterial GK protein. Northern blot analysis showed 3 GK mRNA transcript sizes of 1.85, 2.7, and 3.7 kb. Expression of the GK gene was found in several human tissues, including skeletal muscle, kidney, and brain, with highest expression in liver. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1850845+8499898" 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="Guo, W., Worley, K., Adams, V., Mason, J., Sylvester-Jackson, D., Zhang, Y.-H., Towbin, J. A., Fogt, D. D., Madu, S., Wheeler, D. A., McCabe, E. R. B. <strong>Genomic scanning for expressed sequences in Xp21 identifies the glycerol kinase gene.</strong> Nature Genet. 4: 367-371, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8401584/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8401584</a>] [<a href="https://doi.org/10.1038/ng0893-367" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8401584">Guo et al. (1993)</a> stated that the methods for screening total human DNA or YAC and cosmid clones for expressed sequences include interspecies cross-hybridization ('zoo blots'), CpG island mapping, homologous recombination, hybridization of cDNAs to genomic clones, evaluation of nuclear RNA from somatic cell hybrids, exon trapping, hybridization of genomic (YAC) DNA to cDNA libraries, and random cDNA sequencing. These methods suffer from low efficiency and high background. <a href="#4" class="mim-tip-reference" title="Guo, W., Worley, K., Adams, V., Mason, J., Sylvester-Jackson, D., Zhang, Y.-H., Towbin, J. A., Fogt, D. D., Madu, S., Wheeler, D. A., McCabe, E. R. B. <strong>Genomic scanning for expressed sequences in Xp21 identifies the glycerol kinase gene.</strong> Nature Genet. 4: 367-371, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8401584/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8401584</a>] [<a href="https://doi.org/10.1038/ng0893-367" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8401584">Guo et al. (1993)</a> described an efficient, sensitive and specific method for identifying genes which they referred to as cDNA amplification for identification of genomic expressed sequences (CAIGES). The approach combined PCR, for nonspecific amplification of cDNA library inserts, with hybridization of the amplified and labeled cDNAs to Southern blots of cloned genomic material blocked with placental DNA. When a genomic restriction fragment is identified by hybridization with the amplified cDNA library, the fragment is used to select the corresponding cDNA clone and can be subcloned and sequenced for identification of exons. Using the CAIGES approach, <a href="#4" class="mim-tip-reference" title="Guo, W., Worley, K., Adams, V., Mason, J., Sylvester-Jackson, D., Zhang, Y.-H., Towbin, J. A., Fogt, D. D., Madu, S., Wheeler, D. A., McCabe, E. R. B. <strong>Genomic scanning for expressed sequences in Xp21 identifies the glycerol kinase gene.</strong> Nature Genet. 4: 367-371, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8401584/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8401584</a>] [<a href="https://doi.org/10.1038/ng0893-367" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8401584">Guo et al. (1993)</a> were able to clone the entire human hepatic GK cDNA coding sequence, beginning with a cosmid from the GK 'critical region' of Xp21. Corroboration of the identity of the gene was obtained by functional complementation of GK-deficient E. coli mutants. The cDNA encodes a 524-amino acid protein with 62% and 77% similarity to the E. coli and B. subtilis GK proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8401584" 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="#6" class="mim-tip-reference" title="Huq, A. H. M., Lovell, R. S., Sampson, M. J., Decker, W. K., Dinulos, M. B., Disteche, C. M., Craigen, W. J. <strong>Isolation, mapping, and functional expression of the mouse X chromosome glycerol kinase gene.</strong> Genomics 36: 530-534, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8884278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8884278</a>] [<a href="https://doi.org/10.1006/geno.1996.0500" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8884278">Huq et al. (1996)</a> presented the sequence of a full-length mouse Gyk cDNA that is alternatively spliced in brain. Transient transfection of cDNA into COS-7 cells caused a marked elevation in glycerol kinase activity, confirming the functional identity of the cDNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8884278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By analysis of cosmid and YAC clones, <a href="#11" class="mim-tip-reference" title="Sargent, C. A., Young, C., Marsh, S., Ferguson-Smith, M. A., Affara, N. A. <strong>The glycerol kinase gene family: structure of the Xp gene, and related intronless retroposons.</strong> Hum. Molec. Genet. 3: 1317-1324, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7987308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7987308</a>] [<a href="https://doi.org/10.1093/hmg/3.8.1317" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7987308">Sargent et al. (1994)</a> showed that the GK1 locus on Xp21.3 is more than 50 kb long and comprises at least 19 exons. In contrast, the remaining members of the glycerol kinase gene family, located on chromosomes 1, 4, and Xq, appear to be intronless. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7987308" 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="#12" class="mim-tip-reference" title="Sjarif, D. R., Sinke, R. J., Duran, M., Beemer, F. A., Kleijer, W. J., Ploos van Amstel, J. K., Poll-The, B. T. <strong>Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.</strong> J. Med. Genet. 35: 650-656, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9719371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9719371</a>] [<a href="https://doi.org/10.1136/jmg.35.8.650" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9719371">Sjarif et al. (1998)</a> found 2 differences from the previously reported sequence. They demonstrated that exon 9 actually consists of 2 exons separated by an intron of 392 basepairs, increasing the number of exons of the GK gene from 19 to 20. <a href="#12" class="mim-tip-reference" title="Sjarif, D. R., Sinke, R. J., Duran, M., Beemer, F. A., Kleijer, W. J., Ploos van Amstel, J. K., Poll-The, B. T. <strong>Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.</strong> J. Med. Genet. 35: 650-656, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9719371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9719371</a>] [<a href="https://doi.org/10.1136/jmg.35.8.650" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9719371">Sjarif et al. (1998)</a> also demonstrated 3 nucleotide differences in exon 19 as compared to the sequence published by <a href="#11" class="mim-tip-reference" title="Sargent, C. A., Young, C., Marsh, S., Ferguson-Smith, M. A., Affara, N. A. <strong>The glycerol kinase gene family: structure of the Xp gene, and related intronless retroposons.</strong> Hum. Molec. Genet. 3: 1317-1324, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7987308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7987308</a>] [<a href="https://doi.org/10.1093/hmg/3.8.1317" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7987308">Sargent et al. (1994)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9719371+7987308" 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="#10" class="mim-tip-reference" title="Sargent, C. A., Kidd, A., Moore, S., Dean, J., Besley, G. T. N., Affara, N. A. <strong>Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation.</strong> J. Med. Genet. 37: 434-441, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10851254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10851254</a>] [<a href="https://doi.org/10.1136/jmg.37.6.434" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10851254">Sargent et al. (2000)</a> identified an additional 18-bp exon between exons 8 and 9, thus bringing the total number of exons to 21. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10851254" 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="#11" class="mim-tip-reference" title="Sargent, C. A., Young, C., Marsh, S., Ferguson-Smith, M. A., Affara, N. A. <strong>The glycerol kinase gene family: structure of the Xp gene, and related intronless retroposons.</strong> Hum. Molec. Genet. 3: 1317-1324, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7987308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7987308</a>] [<a href="https://doi.org/10.1093/hmg/3.8.1317" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7987308">Sargent et al. (1994)</a> determined that the X-linked human glycerol kinase gene maps to Xp21.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7987308" 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="#6" class="mim-tip-reference" title="Huq, A. H. M., Lovell, R. S., Sampson, M. J., Decker, W. K., Dinulos, M. B., Disteche, C. M., Craigen, W. J. <strong>Isolation, mapping, and functional expression of the mouse X chromosome glycerol kinase gene.</strong> Genomics 36: 530-534, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8884278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8884278</a>] [<a href="https://doi.org/10.1006/geno.1996.0500" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8884278">Huq et al. (1996)</a> mapped the mouse Gyk gene to the mouse X chromosome by both fluorescence in situ hybridization and an interspecies backcross demonstrating conservation of synteny with dmd (<a href="/entry/310200">310200</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8884278" 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><strong><em>Pseudogenes</em></strong></p><p>
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<a href="#11" class="mim-tip-reference" title="Sargent, C. A., Young, C., Marsh, S., Ferguson-Smith, M. A., Affara, N. A. <strong>The glycerol kinase gene family: structure of the Xp gene, and related intronless retroposons.</strong> Hum. Molec. Genet. 3: 1317-1324, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7987308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7987308</a>] [<a href="https://doi.org/10.1093/hmg/3.8.1317" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7987308">Sargent et al. (1994)</a> determined that the human glycerol kinase gene family consists of at least 6 genomic loci, 4 of which encode expressed sequences. They identified 2 different testis transcripts, both of which are encoded by chromosome 4. The genes on Xq and chromosome 1 were thought to be pseudogenes; the gene on chromosome 4 is processed and expressed. The authors suggested that these sequences probably arose through reverse transcriptase mediated events. By fluorescence in situ hybridization, the 2 chromosome 4 loci were positioned at 4q13 and 4q32 (see <a href="/entry/600148">600148</a> and <a href="/entry/600149">600149</a>); the pseudogenes were located at 1q41 and Xq23. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7987308" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#7" class="mim-tip-reference" title="Parr, L. S., Sriram, G., Nazarian, R., Rahib, L., Dipple, K. M. <strong>The ATP-stimulated translocation promoter (ASTP) activity of glycerol kinase plays central role in adipogenesis.</strong> Molec. Genet. Metab. 124: 254-265, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29960856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29960856</a>] [<a href="https://doi.org/10.1016/j.ymgme.2018.06.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29960856">Parr et al. (2018)</a> found that carbohydrate metabolism and fatty acid metabolism were significantly different between H4IIE rat hepatoma cells overexpressing human GK and control H4IIE cells. Reconstruction analysis of triose-3-phosphate isotopomers showed that carbon from glycerol did not directly interact with triose-3-phosphate and that the contribution of glycerol to carbohydrate metabolism was identical in both cell lines, regardless of GK expression. Metabolic flux analysis revealed that GK-overexpressing H4IIE cells had significantly increased flux through the pentose phosphate pathway. Moreover, the fatty acid isotopomer abundances were different between GK-overexpressing and control cell lines. These results demonstrated that metabolic changes in the GK-overexpressing cells were not due to increased GK enzymatic function, but rather due to GK function in lipid synthesis via ATP-stimulated translocation promoter (ASTP) activity. E. coli Gk had no ASTP activity, as verified in H4IIE cells overexpressing E. coli Gk. H4IIE cells overexpressing human GK had higher lipid reserves than control cells, whereas the cells overexpressing E. coli Gk were similar to controls, further demonstrating ASTP activity of GK. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29960856" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#9" class="mim-tip-reference" title="Sargent, C. A., Affara, N. A., Bentley, E., Pelmear, A., Bailey, D. M. D., Davey, P., Dow, D., Leversha, M., Aplin, H., Besley, G. T. N., Ferguson-Smith, M. A. <strong>Cloning of the X-linked glycerol kinase deficiency gene and its identification by sequence comparison to the Bacillus subtilis homologue.</strong> Hum. Molec. Genet. 2: 97-106, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8499912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8499912</a>] [<a href="https://doi.org/10.1093/hmg/2.2.97" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8499912">Sargent et al. (1993)</a> found that the cDNA sequence corresponding to the GK gene was deleted in 2 patients with glycerol kinase deficiency (GKD; <a href="/entry/307030">307030</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8499912" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 4 patients with isolated glycerol kinase deficiency, <a href="#14" class="mim-tip-reference" title="Walker, A. P., Muscatelli, F., Stafford, A. N., Chelly, J., Dahl, N., Blomquist, H. K., Delanghe, J., Willems, P. J., Steinmann, B., Monaco, A. P. <strong>Mutations and phenotype in isolated glycerol kinase deficiency.</strong> Am. J. Hum. Genet. 58: 1205-1211, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8651297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8651297</a>]" pmid="8651297">Walker et al. (1996)</a> identified 3 different mutations in the GK gene (<a href="#0001">300474.0001</a>-<a href="#0003">300474.0003</a>). The authors noted widely differing phenotypes and suggested ascertainment bias; metabolic or environmental stress as a precipitating factor in revealing GK-related changes, as had previously been described in juvenile GK deficiency; and interactions with functional polymorphisms in other genes that alter the effect of GK deficiency on normal development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8651297" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 3 families with isolated glycerol kinase deficiency, <a href="#12" class="mim-tip-reference" title="Sjarif, D. R., Sinke, R. J., Duran, M., Beemer, F. A., Kleijer, W. J., Ploos van Amstel, J. K., Poll-The, B. T. <strong>Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.</strong> J. Med. Genet. 35: 650-656, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9719371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9719371</a>] [<a href="https://doi.org/10.1136/jmg.35.8.650" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9719371">Sjarif et al. (1998)</a> identified 3 mutations in the GK gene (<a href="#0004">300474.0004</a>-<a href="#0006">300474.0006</a>). There were no apparent genotype/phenotype correlations in these families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9719371" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 5 children with glycerol kinase deficiency, <a href="#10" class="mim-tip-reference" title="Sargent, C. A., Kidd, A., Moore, S., Dean, J., Besley, G. T. N., Affara, N. A. <strong>Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation.</strong> J. Med. Genet. 37: 434-441, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10851254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10851254</a>] [<a href="https://doi.org/10.1136/jmg.37.6.434" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10851254">Sargent et al. (2000)</a> identified 5 mutations in the GK gene: 2 nonsense mutations, 1 insertion, and an amino acid substitution. There was no correlation between the nature of the mutation and the spectrum of phenotypic variation. Phenotypic variation was observed in 2 families in which more than 1 affected subject carried the same mutation, confirming previous studies suggesting that there is no correlation between disease severity and genotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10851254" 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>GKD can be either symptomatic with episodic metabolic and central nervous system decompensation or asymptomatic with hyperglycerolemia and glyceroluria only. <a href="#2" class="mim-tip-reference" title="Dipple, K. M., Zhang, Y.-H., Huang, B.-L., McCabe, L. L., Dallongeville, J., Inokuchi, T., Kimura, M., Marx, H. J., Roederer, G. O., Shih, V., Yamaguchi, S., Yoshida, I., McCabe, E. R. B. <strong>Glycerol kinase deficiency: evidence for complexity in a single gene disorder.</strong> Hum. Genet. 109: 55-62, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11479736/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11479736</a>] [<a href="https://doi.org/10.1007/s004390100545" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11479736">Dipple et al. (2001)</a> studied individuals with point mutations in the GK coding region. Six had missense mutations: 4 in males who were asymptomatic and 2 in individuals who were symptomatic. GK activity measured in lymphoblastoid cell lines or fibroblasts was similar for the symptomatic and the asymptomatic individuals. Mapping of the missense mutations to the 3-dimensional structure of E. coli GK showed that the symptomatic individuals' mutations were in the same region as a subset of the mutations among the asymptomatic individuals, i.e., adjacent to the active-site cleft. <a href="#2" class="mim-tip-reference" title="Dipple, K. M., Zhang, Y.-H., Huang, B.-L., McCabe, L. L., Dallongeville, J., Inokuchi, T., Kimura, M., Marx, H. J., Roederer, G. O., Shih, V., Yamaguchi, S., Yoshida, I., McCabe, E. R. B. <strong>Glycerol kinase deficiency: evidence for complexity in a single gene disorder.</strong> Hum. Genet. 109: 55-62, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11479736/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11479736</a>] [<a href="https://doi.org/10.1007/s004390100545" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11479736">Dipple et al. (2001)</a> concluded that, like many other disorders, GK genotype does not predict GKD phenotype. They proposed that GKD is a complex trait influenced by additional, independently inherited genetic factors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11479736" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Huq, A. H. M., Lovell, R. S., Ou, C.-N., Beaudet, A. L., Craigen, W. J. <strong>X-linked glycerol kinase deficiency in the mouse leads to growth retardation, altered fat metabolism, autonomous glucocorticoid secretion and neonatal death.</strong> Hum. Molec. Genet. 6: 1803-1809, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9302256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9302256</a>] [<a href="https://doi.org/10.1093/hmg/6.11.1803" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9302256">Huq et al. (1997)</a> generated glycerol kinase-deficient mice by targeted disruption. Mutant male mice appeared normal at birth, but exhibited postnatal growth retardation, altered fat metabolism with profound hyperglycerolemia and elevated free fatty acids, autonomous glucocorticoid synthesis, and death by 3 to 4 days of age. Heterozygous females were healthy and biochemically normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9302256" 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 microarray analysis, <a href="#8" class="mim-tip-reference" title="Rahib, L., MacLennan, N. K., Horvath, S., Liao, J. C., Dipple, K. M. <strong>Glycerol kinase deficiency alters expression of genes involved in lipid metabolism, carbohydrate metabolism, and insulin signaling.</strong> Europ. J. Hum. Genet. 15: 646-657, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17406644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17406644</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201801" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17406644">Rahib et al. (2007)</a> examined global gene expression profiles of GK-null and wildtype mice and detected 668 differentially expressed genes, including genes involved in lipid metabolism, carbohydrate metabolism, insulin signaling, and insulin resistance. The authors suggested that glycerol kinase deficiency may play a role in insulin resistance and type 2 diabetes mellitus (<a href="/entry/125853">125853</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17406644" 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 2 brothers with glycerol kinase deficiency (GKD; <a href="/entry/307030">307030</a>), <a href="#14" class="mim-tip-reference" title="Walker, A. P., Muscatelli, F., Stafford, A. N., Chelly, J., Dahl, N., Blomquist, H. K., Delanghe, J., Willems, P. J., Steinmann, B., Monaco, A. P. <strong>Mutations and phenotype in isolated glycerol kinase deficiency.</strong> Am. J. Hum. Genet. 58: 1205-1211, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8651297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8651297</a>]" pmid="8651297">Walker et al. (1996)</a> identified a deletion of exon 17 in the GK gene. The older brother had a severe phenotype with psychomotor retardation and growth delay, bone dysplasias, and seizures. whereas his younger brother had relatively normal development at age 3 years. In the cDNA sequence, <a href="#14" class="mim-tip-reference" title="Walker, A. P., Muscatelli, F., Stafford, A. N., Chelly, J., Dahl, N., Blomquist, H. K., Delanghe, J., Willems, P. J., Steinmann, B., Monaco, A. P. <strong>Mutations and phenotype in isolated glycerol kinase deficiency.</strong> Am. J. Hum. Genet. 58: 1205-1211, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8651297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8651297</a>]" pmid="8651297">Walker et al. (1996)</a> found that exon 16 was spliced directly to the penultimate exon 18 as a result of deletion of exon 17. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8651297" 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="0003" class="mim-anchor"></a>
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<strong>.0003 GLYCEROL KINASE DEFICIENCY</strong>
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GK, ASP440VAL
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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> rs132630328 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs132630328;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/rs132630328?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=rs132630328" 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=rs132630328" 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=RCV000011690" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011690" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011690</a>
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<p>In a male patient with glycerol kinase deficiency and mental retardation (GKD; <a href="/entry/307030">307030</a>), <a href="#14" class="mim-tip-reference" title="Walker, A. P., Muscatelli, F., Stafford, A. N., Chelly, J., Dahl, N., Blomquist, H. K., Delanghe, J., Willems, P. J., Steinmann, B., Monaco, A. P. <strong>Mutations and phenotype in isolated glycerol kinase deficiency.</strong> Am. J. Hum. Genet. 58: 1205-1211, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8651297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8651297</a>]" pmid="8651297">Walker et al. (1996)</a> identified an A-to-T change in exon 15 of the GK gene, resulting in an asp44-to-val (D44V) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8651297" 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="0004" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0004 GLYCEROL KINASE DEFICIENCY</strong>
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</h4>
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GK, 20-KB DEL
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011691" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011691" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011691</a>
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<p>In a child with glycerol kinase deficiency (GKD; <a href="/entry/307030">307030</a>) who presented with metabolic acidosis in the first week of life, <a href="#12" class="mim-tip-reference" title="Sjarif, D. R., Sinke, R. J., Duran, M., Beemer, F. A., Kleijer, W. J., Ploos van Amstel, J. K., Poll-The, B. T. <strong>Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.</strong> J. Med. Genet. 35: 650-656, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9719371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9719371</a>] [<a href="https://doi.org/10.1136/jmg.35.8.650" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9719371">Sjarif et al. (1998)</a> reported a deletion in the GK gene of at least 20 kb extending from exon 9 to at least the 3-prime end of the gene. His maternal grandfather and 2 cousins, who carried the same genetic and biochemical defect, had either minimal or no symptoms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9719371" 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="0005" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0005 GLYCEROL KINASE DEFICIENCY</strong>
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</h4>
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GK, ARG413TER
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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> rs132630329 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs132630329;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/rs132630329?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=rs132630329" 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=rs132630329" 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=RCV000011692" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011692" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011692</a>
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</span>
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<span class="mim-text-font">
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<p>In a child with glycerol kinase deficiency (GKD; <a href="/entry/307030">307030</a>) who presented at 3 years of age with ketoacidosis, <a href="#12" class="mim-tip-reference" title="Sjarif, D. R., Sinke, R. J., Duran, M., Beemer, F. A., Kleijer, W. J., Ploos van Amstel, J. K., Poll-The, B. T. <strong>Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.</strong> J. Med. Genet. 35: 650-656, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9719371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9719371</a>] [<a href="https://doi.org/10.1136/jmg.35.8.650" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9719371">Sjarif et al. (1998)</a> reported a C-to-T transition in the GK gene, resulting in a nonsense mutation at codon 413 (arg413-to-ter; R413X). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9719371" 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="0006" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0006 GLYCEROL KINASE DEFICIENCY</strong>
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</span>
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</h4>
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</div>
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GK, TRP503ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs132630330 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs132630330;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=rs132630330" 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=rs132630330" 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=RCV000011693" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011693" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011693</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 a boy with glycerol kinase deficiency (GKD; <a href="/entry/307030">307030</a>) who presented at 10 months of age with generalized seizures and psychomotor delay, <a href="#12" class="mim-tip-reference" title="Sjarif, D. R., Sinke, R. J., Duran, M., Beemer, F. A., Kleijer, W. J., Ploos van Amstel, J. K., Poll-The, B. T. <strong>Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.</strong> J. Med. Genet. 35: 650-656, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9719371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9719371</a>] [<a href="https://doi.org/10.1136/jmg.35.8.650" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9719371">Sjarif et al. (1998)</a> reported a 1651T-C transition in the GK gene, resulting in a trp503-to-arg (W503R) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9719371" 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="0007" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0007 GLYCEROL KINASE 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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GK, ALU INS, IVS4
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</div>
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</span>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011694" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011694" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011694</a>
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</span>
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<span class="mim-text-font">
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<p><a href="#16" class="mim-tip-reference" title="Zhang, Y.-H., Dipple, K. M., Vilain, E., Huang, B.-L., Finlayson, G., Therrell, B. L., Worley, K., Deininger, P., McCabe, E. R. B. <strong>AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency.</strong> Hum. Mutat. 15: 316-323, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10737976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10737976</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(200004)15:4<316::AID-HUMU3>3.0.CO;2-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10737976">Zhang et al. (2000)</a> reported the case of a male with benign glycerol kinase deficiency (GKD; <a href="/entry/307030">307030</a>) who was incidentally identified after observation of pseudohypertriglyceridemia at the age of 36 years. DNA sequencing of the GK gene showed insertion of an AluY sequence in intron 4 (IVS4-52ins316Alu) of the glycerol kinase gene. Although Alu insertions had been implicated in other disorders, and a closely related AluY element had been found as an insert in the C1 inhibitor gene (<a href="/entry/606860">606860</a>) in patients with hereditary angioedema (<a href="/entry/106100">106100</a>), this was the first case of glycerol kinase deficiency caused by an Alu insertion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10737976" 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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<h4>
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<span class="mim-font">
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<strong>.0008 GLYCEROL KINASE DEFICIENCY</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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GK, ASN288ASP
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs132630331 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs132630331;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=rs132630331" 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=rs132630331" 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=RCV000011695" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011695" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011695</a>
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<p>In 5 French Canadian families in which 18 males had severe hyperglycerolemia (GKD; <a href="/entry/307030">307030</a>) in an X-linked pattern of inheritance, <a href="#3" class="mim-tip-reference" title="Gaudet, D., Arsenault, S., Perusse, L., Vohl, M.-C., St.-Pierre, J., Bergeron, J., Despres, J.-P., Dewar, K., Daly, M. J., Hudson, T., Rioux, J. D. <strong>Glycerol as a correlate of impaired glucose tolerance: dissection of a complex system by use of a simple genetic trait.</strong> Am. J. Hum. Genet. 66: 1558-1568, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10736265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10736265</a>] [<a href="https://doi.org/10.1086/302903" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10736265">Gaudet et al. (2000)</a> identified an asn288-to-asp (N288D) missense mutation in exon 10 of the GK gene. All of those affected were reportedly in good health. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10736265" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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[<a href="https://doi.org/10.1073/pnas.88.9.4005" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s004390100545" target="_blank">Full Text</a>]
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Gaudet, D., Arsenault, S., Perusse, L., Vohl, M.-C., St.-Pierre, J., Bergeron, J., Despres, J.-P., Dewar, K., Daly, M. J., Hudson, T., Rioux, J. D.
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<strong>Glycerol as a correlate of impaired glucose tolerance: dissection of a complex system by use of a simple genetic trait.</strong>
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Am. J. Hum. Genet. 66: 1558-1568, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10736265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10736265</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10736265" 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/10.1086/302903" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ng0893-367" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/6.11.1803" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1006/geno.1996.0500" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.ymgme.2018.06.001" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5201801" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/2.2.97" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.37.6.434" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/3.8.1317" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.35.8.650" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/2.2.107" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8499911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8499911</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8499911" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/2.2.95" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Zhang2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zhang, Y.-H., Dipple, K. M., Vilain, E., Huang, B.-L., Finlayson, G., Therrell, B. L., Worley, K., Deininger, P., McCabe, E. R. B.
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<strong>AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency.</strong>
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Hum. Mutat. 15: 316-323, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10737976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10737976</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10737976" 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/(SICI)1098-1004(200004)15:4<316::AID-HUMU3>3.0.CO;2-9" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Bao Lige - updated : 10/18/2018
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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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Marla J. F. O'Neill - updated : 7/18/2008
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</span>
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</div>
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</div>
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</div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin : 1/30/2004
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</span>
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</div>
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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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mgross : 10/18/2018
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</span>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 02/28/2017<br>carol : 07/28/2015<br>carol : 2/21/2014<br>carol : 2/21/2014<br>wwang : 7/21/2008<br>terry : 7/18/2008<br>terry : 12/17/2007<br>carol : 2/20/2004<br>carol : 2/20/2004<br>ckniffin : 2/5/2004
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 300474
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</span>
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</h3>
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<h3>
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<span class="mim-font">
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GLYCEROL KINASE; GK
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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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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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ATP:GLYCEROL PHOSPHOTRANSFERASE
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: GK</em></strong>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 124322002;
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<strong>
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<em>
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Cytogenetic location: Xp21.2
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Genomic coordinates <span class="small">(GRCh38)</span> : X:30,653,423-30,731,462 </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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<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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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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Inheritance
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<th>
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Phenotype <br /> mapping key
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<tbody>
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<td rowspan="1">
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<span class="mim-font">
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Xp21.2
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<td>
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<span class="mim-font">
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Glycerol kinase 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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307030
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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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X-linked 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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</table>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Glycerol kinase (EC 2.7.1.30) catalyzes the phosphorylation of glycerol by ATP, yielding ADP and glycerol-3-phosphate.</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>Sargent et al. (1993) isolated and sequenced cDNA clones from a human adult testis cDNA library to produce expressed sequence tags (ESTs). Using these ESTs to search DNA and protein sequence databases, Sargent et al. (1993) isolated a cDNA clone that showed 60% identity to the Bacillus subtilis glycerol kinase gene at both the DNA and amino acid sequence levels. Analysis of DNA from somatic cell hybrids carrying deleted X chromosomes showed that this clone detected homologous sequences between Xp22.1-p21.2, the interval containing the locus responsible for glycerol kinase deficiency (GKD; 307030). In a commentary, Willard (1993) pointed out the usefulness of the EST strategy for cataloging new genes. Sargent et al. (1994) reported that Northern blot analysis showed expression of GK transcripts of 3 sizes in a wide range of adult tissues. Only the smallest hybridizing species was present in testis, where it occurred at an elevated level. </p><p>Simultaneously and independently, Walker et al. (1993) used positional cloning to isolate the human Xp21 GK gene. Using exon amplification products prepared from Xp21.3 cosmids mapping in the 50- to 250-kb GK critical region, according to the method of Buckler et al. (1991), Walker et al. (1993) screened a fetal liver cDNA library and identified 6 overlapping clones that encoded a partial predicted 395-amino acid protein with significant homology to the bacterial GK protein. Northern blot analysis showed 3 GK mRNA transcript sizes of 1.85, 2.7, and 3.7 kb. Expression of the GK gene was found in several human tissues, including skeletal muscle, kidney, and brain, with highest expression in liver. </p><p>Guo et al. (1993) stated that the methods for screening total human DNA or YAC and cosmid clones for expressed sequences include interspecies cross-hybridization ('zoo blots'), CpG island mapping, homologous recombination, hybridization of cDNAs to genomic clones, evaluation of nuclear RNA from somatic cell hybrids, exon trapping, hybridization of genomic (YAC) DNA to cDNA libraries, and random cDNA sequencing. These methods suffer from low efficiency and high background. Guo et al. (1993) described an efficient, sensitive and specific method for identifying genes which they referred to as cDNA amplification for identification of genomic expressed sequences (CAIGES). The approach combined PCR, for nonspecific amplification of cDNA library inserts, with hybridization of the amplified and labeled cDNAs to Southern blots of cloned genomic material blocked with placental DNA. When a genomic restriction fragment is identified by hybridization with the amplified cDNA library, the fragment is used to select the corresponding cDNA clone and can be subcloned and sequenced for identification of exons. Using the CAIGES approach, Guo et al. (1993) were able to clone the entire human hepatic GK cDNA coding sequence, beginning with a cosmid from the GK 'critical region' of Xp21. Corroboration of the identity of the gene was obtained by functional complementation of GK-deficient E. coli mutants. The cDNA encodes a 524-amino acid protein with 62% and 77% similarity to the E. coli and B. subtilis GK proteins. </p><p>Huq et al. (1996) presented the sequence of a full-length mouse Gyk cDNA that is alternatively spliced in brain. Transient transfection of cDNA into COS-7 cells caused a marked elevation in glycerol kinase activity, confirming the functional identity of the cDNA. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By analysis of cosmid and YAC clones, Sargent et al. (1994) showed that the GK1 locus on Xp21.3 is more than 50 kb long and comprises at least 19 exons. In contrast, the remaining members of the glycerol kinase gene family, located on chromosomes 1, 4, and Xq, appear to be intronless. </p><p>Sjarif et al. (1998) found 2 differences from the previously reported sequence. They demonstrated that exon 9 actually consists of 2 exons separated by an intron of 392 basepairs, increasing the number of exons of the GK gene from 19 to 20. Sjarif et al. (1998) also demonstrated 3 nucleotide differences in exon 19 as compared to the sequence published by Sargent et al. (1994). </p><p>Sargent et al. (2000) identified an additional 18-bp exon between exons 8 and 9, thus bringing the total number of exons to 21. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Sargent et al. (1994) determined that the X-linked human glycerol kinase gene maps to Xp21.3. </p><p>Huq et al. (1996) mapped the mouse Gyk gene to the mouse X chromosome by both fluorescence in situ hybridization and an interspecies backcross demonstrating conservation of synteny with dmd (310200). </p><p><strong><em>Pseudogenes</em></strong></p><p>
|
|
Sargent et al. (1994) determined that the human glycerol kinase gene family consists of at least 6 genomic loci, 4 of which encode expressed sequences. They identified 2 different testis transcripts, both of which are encoded by chromosome 4. The genes on Xq and chromosome 1 were thought to be pseudogenes; the gene on chromosome 4 is processed and expressed. The authors suggested that these sequences probably arose through reverse transcriptase mediated events. By fluorescence in situ hybridization, the 2 chromosome 4 loci were positioned at 4q13 and 4q32 (see 600148 and 600149); the pseudogenes were located at 1q41 and Xq23. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Parr et al. (2018) found that carbohydrate metabolism and fatty acid metabolism were significantly different between H4IIE rat hepatoma cells overexpressing human GK and control H4IIE cells. Reconstruction analysis of triose-3-phosphate isotopomers showed that carbon from glycerol did not directly interact with triose-3-phosphate and that the contribution of glycerol to carbohydrate metabolism was identical in both cell lines, regardless of GK expression. Metabolic flux analysis revealed that GK-overexpressing H4IIE cells had significantly increased flux through the pentose phosphate pathway. Moreover, the fatty acid isotopomer abundances were different between GK-overexpressing and control cell lines. These results demonstrated that metabolic changes in the GK-overexpressing cells were not due to increased GK enzymatic function, but rather due to GK function in lipid synthesis via ATP-stimulated translocation promoter (ASTP) activity. E. coli Gk had no ASTP activity, as verified in H4IIE cells overexpressing E. coli Gk. H4IIE cells overexpressing human GK had higher lipid reserves than control cells, whereas the cells overexpressing E. coli Gk were similar to controls, further demonstrating ASTP activity of GK. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p>Sargent et al. (1993) found that the cDNA sequence corresponding to the GK gene was deleted in 2 patients with glycerol kinase deficiency (GKD; 307030). </p><p>In 4 patients with isolated glycerol kinase deficiency, Walker et al. (1996) identified 3 different mutations in the GK gene (300474.0001-300474.0003). The authors noted widely differing phenotypes and suggested ascertainment bias; metabolic or environmental stress as a precipitating factor in revealing GK-related changes, as had previously been described in juvenile GK deficiency; and interactions with functional polymorphisms in other genes that alter the effect of GK deficiency on normal development. </p><p>In 3 families with isolated glycerol kinase deficiency, Sjarif et al. (1998) identified 3 mutations in the GK gene (300474.0004-300474.0006). There were no apparent genotype/phenotype correlations in these families. </p><p>In 5 children with glycerol kinase deficiency, Sargent et al. (2000) identified 5 mutations in the GK gene: 2 nonsense mutations, 1 insertion, and an amino acid substitution. There was no correlation between the nature of the mutation and the spectrum of phenotypic variation. Phenotypic variation was observed in 2 families in which more than 1 affected subject carried the same mutation, confirming previous studies suggesting that there is no correlation between disease severity and genotype. </p><p>GKD can be either symptomatic with episodic metabolic and central nervous system decompensation or asymptomatic with hyperglycerolemia and glyceroluria only. Dipple et al. (2001) studied individuals with point mutations in the GK coding region. Six had missense mutations: 4 in males who were asymptomatic and 2 in individuals who were symptomatic. GK activity measured in lymphoblastoid cell lines or fibroblasts was similar for the symptomatic and the asymptomatic individuals. Mapping of the missense mutations to the 3-dimensional structure of E. coli GK showed that the symptomatic individuals' mutations were in the same region as a subset of the mutations among the asymptomatic individuals, i.e., adjacent to the active-site cleft. Dipple et al. (2001) concluded that, like many other disorders, GK genotype does not predict GKD phenotype. They proposed that GKD is a complex trait influenced by additional, independently inherited genetic factors. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Huq et al. (1997) generated glycerol kinase-deficient mice by targeted disruption. Mutant male mice appeared normal at birth, but exhibited postnatal growth retardation, altered fat metabolism with profound hyperglycerolemia and elevated free fatty acids, autonomous glucocorticoid synthesis, and death by 3 to 4 days of age. Heterozygous females were healthy and biochemically normal. </p><p>Using microarray analysis, Rahib et al. (2007) examined global gene expression profiles of GK-null and wildtype mice and detected 668 differentially expressed genes, including genes involved in lipid metabolism, carbohydrate metabolism, insulin signaling, and insulin resistance. The authors suggested that glycerol kinase deficiency may play a role in insulin resistance and type 2 diabetes mellitus (125853). </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>ALLELIC VARIANTS</strong>
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</span>
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<strong>8 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0001 GLYCEROL KINASE 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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GK, IVS6AS, G-C, -1
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<br />
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SNP: rs587776740,
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ClinVar: RCV000011688
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a 61-year-old male of Belgian origin, referred for 'refractory hypertriglyceridemia,' Walker et al. (1996) identified a G-to-C transversion in the last nucleotide of intron 6, resulting in a splice site mutation causing premature termination of the GK protein. His general health was good despite GK deficiency (GKD; 307030). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0002 GLYCEROL KINASE 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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|
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GK, EX17DEL
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<br />
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ClinVar: RCV000011689
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In 2 brothers with glycerol kinase deficiency (GKD; 307030), Walker et al. (1996) identified a deletion of exon 17 in the GK gene. The older brother had a severe phenotype with psychomotor retardation and growth delay, bone dysplasias, and seizures. whereas his younger brother had relatively normal development at age 3 years. In the cDNA sequence, Walker et al. (1996) found that exon 16 was spliced directly to the penultimate exon 18 as a result of deletion of exon 17. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 GLYCEROL KINASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
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|
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|
GK, ASP440VAL
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<br />
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|
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SNP: rs132630328,
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|
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gnomAD: rs132630328,
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|
|
ClinVar: RCV000011690
|
|
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</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a male patient with glycerol kinase deficiency and mental retardation (GKD; 307030), Walker et al. (1996) identified an A-to-T change in exon 15 of the GK gene, resulting in an asp44-to-val (D44V) substitution. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 GLYCEROL KINASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
|
GK, 20-KB DEL
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<br />
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ClinVar: RCV000011691
|
|
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|
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</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a child with glycerol kinase deficiency (GKD; 307030) who presented with metabolic acidosis in the first week of life, Sjarif et al. (1998) reported a deletion in the GK gene of at least 20 kb extending from exon 9 to at least the 3-prime end of the gene. His maternal grandfather and 2 cousins, who carried the same genetic and biochemical defect, had either minimal or no symptoms. </p>
|
|
</span>
|
|
</div>
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<div>
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|
<br />
|
|
</div>
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</div>
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<div>
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|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 GLYCEROL KINASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
|
GK, ARG413TER
|
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<br />
|
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|
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SNP: rs132630329,
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|
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gnomAD: rs132630329,
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|
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|
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ClinVar: RCV000011692
|
|
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|
|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a child with glycerol kinase deficiency (GKD; 307030) who presented at 3 years of age with ketoacidosis, Sjarif et al. (1998) reported a C-to-T transition in the GK gene, resulting in a nonsense mutation at codon 413 (arg413-to-ter; R413X). </p>
|
|
</span>
|
|
</div>
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|
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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|
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|
<div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 GLYCEROL KINASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
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|
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
GK, TRP503ARG
|
|
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|
|
<br />
|
|
|
|
SNP: rs132630330,
|
|
|
|
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|
|
|
ClinVar: RCV000011693
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a boy with glycerol kinase deficiency (GKD; 307030) who presented at 10 months of age with generalized seizures and psychomotor delay, Sjarif et al. (1998) reported a 1651T-C transition in the GK gene, resulting in a trp503-to-arg (W503R) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 GLYCEROL KINASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GK, ALU INS, IVS4
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000011694
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Zhang et al. (2000) reported the case of a male with benign glycerol kinase deficiency (GKD; 307030) who was incidentally identified after observation of pseudohypertriglyceridemia at the age of 36 years. DNA sequencing of the GK gene showed insertion of an AluY sequence in intron 4 (IVS4-52ins316Alu) of the glycerol kinase gene. Although Alu insertions had been implicated in other disorders, and a closely related AluY element had been found as an insert in the C1 inhibitor gene (606860) in patients with hereditary angioedema (106100), this was the first case of glycerol kinase deficiency caused by an Alu insertion. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 GLYCEROL KINASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GK, ASN288ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs132630331,
|
|
|
|
|
|
|
|
ClinVar: RCV000011695
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 5 French Canadian families in which 18 males had severe hyperglycerolemia (GKD; 307030) in an X-linked pattern of inheritance, Gaudet et al. (2000) identified an asn288-to-asp (N288D) missense mutation in exon 10 of the GK gene. All of those affected were reportedly in good health. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Buckler, A. J., Chang, D. D., Graw, S. L., Brook, J. D., Haber, D. A., Sharp, P. A., Housman, D. E.
|
|
<strong>Exon amplification: a strategy to isolate mammalian genes based on RNA splicing.</strong>
|
|
Proc. Nat. Acad. Sci. 88: 4005-4009, 1991.
|
|
|
|
|
|
[PubMed: 1850845]
|
|
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|
|
[Full Text: https://doi.org/10.1073/pnas.88.9.4005]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Dipple, K. M., Zhang, Y.-H., Huang, B.-L., McCabe, L. L., Dallongeville, J., Inokuchi, T., Kimura, M., Marx, H. J., Roederer, G. O., Shih, V., Yamaguchi, S., Yoshida, I., McCabe, E. R. B.
|
|
<strong>Glycerol kinase deficiency: evidence for complexity in a single gene disorder.</strong>
|
|
Hum. Genet. 109: 55-62, 2001.
|
|
|
|
|
|
[PubMed: 11479736]
|
|
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|
|
[Full Text: https://doi.org/10.1007/s004390100545]
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</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gaudet, D., Arsenault, S., Perusse, L., Vohl, M.-C., St.-Pierre, J., Bergeron, J., Despres, J.-P., Dewar, K., Daly, M. J., Hudson, T., Rioux, J. D.
|
|
<strong>Glycerol as a correlate of impaired glucose tolerance: dissection of a complex system by use of a simple genetic trait.</strong>
|
|
Am. J. Hum. Genet. 66: 1558-1568, 2000.
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|
|
[PubMed: 10736265]
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[Full Text: https://doi.org/10.1086/302903]
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</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Guo, W., Worley, K., Adams, V., Mason, J., Sylvester-Jackson, D., Zhang, Y.-H., Towbin, J. A., Fogt, D. D., Madu, S., Wheeler, D. A., McCabe, E. R. B.
|
|
<strong>Genomic scanning for expressed sequences in Xp21 identifies the glycerol kinase gene.</strong>
|
|
Nature Genet. 4: 367-371, 1993.
|
|
|
|
|
|
[PubMed: 8401584]
|
|
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|
|
[Full Text: https://doi.org/10.1038/ng0893-367]
|
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|
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</p>
|
|
</li>
|
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Huq, A. H. M., Lovell, R. S., Ou, C.-N., Beaudet, A. L., Craigen, W. J.
|
|
<strong>X-linked glycerol kinase deficiency in the mouse leads to growth retardation, altered fat metabolism, autonomous glucocorticoid secretion and neonatal death.</strong>
|
|
Hum. Molec. Genet. 6: 1803-1809, 1997.
|
|
|
|
|
|
[PubMed: 9302256]
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|
|
[Full Text: https://doi.org/10.1093/hmg/6.11.1803]
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</p>
|
|
</li>
|
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Huq, A. H. M., Lovell, R. S., Sampson, M. J., Decker, W. K., Dinulos, M. B., Disteche, C. M., Craigen, W. J.
|
|
<strong>Isolation, mapping, and functional expression of the mouse X chromosome glycerol kinase gene.</strong>
|
|
Genomics 36: 530-534, 1996.
|
|
|
|
|
|
[PubMed: 8884278]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/geno.1996.0500]
|
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|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Parr, L. S., Sriram, G., Nazarian, R., Rahib, L., Dipple, K. M.
|
|
<strong>The ATP-stimulated translocation promoter (ASTP) activity of glycerol kinase plays central role in adipogenesis.</strong>
|
|
Molec. Genet. Metab. 124: 254-265, 2018.
|
|
|
|
|
|
[PubMed: 29960856]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ymgme.2018.06.001]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rahib, L., MacLennan, N. K., Horvath, S., Liao, J. C., Dipple, K. M.
|
|
<strong>Glycerol kinase deficiency alters expression of genes involved in lipid metabolism, carbohydrate metabolism, and insulin signaling.</strong>
|
|
Europ. J. Hum. Genet. 15: 646-657, 2007.
|
|
|
|
|
|
[PubMed: 17406644]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/sj.ejhg.5201801]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sargent, C. A., Affara, N. A., Bentley, E., Pelmear, A., Bailey, D. M. D., Davey, P., Dow, D., Leversha, M., Aplin, H., Besley, G. T. N., Ferguson-Smith, M. A.
|
|
<strong>Cloning of the X-linked glycerol kinase deficiency gene and its identification by sequence comparison to the Bacillus subtilis homologue.</strong>
|
|
Hum. Molec. Genet. 2: 97-106, 1993.
|
|
|
|
|
|
[PubMed: 8499912]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/2.2.97]
|
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|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sargent, C. A., Kidd, A., Moore, S., Dean, J., Besley, G. T. N., Affara, N. A.
|
|
<strong>Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation.</strong>
|
|
J. Med. Genet. 37: 434-441, 2000.
|
|
|
|
|
|
[PubMed: 10851254]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.37.6.434]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sargent, C. A., Young, C., Marsh, S., Ferguson-Smith, M. A., Affara, N. A.
|
|
<strong>The glycerol kinase gene family: structure of the Xp gene, and related intronless retroposons.</strong>
|
|
Hum. Molec. Genet. 3: 1317-1324, 1994.
|
|
|
|
|
|
[PubMed: 7987308]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/3.8.1317]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sjarif, D. R., Sinke, R. J., Duran, M., Beemer, F. A., Kleijer, W. J., Ploos van Amstel, J. K., Poll-The, B. T.
|
|
<strong>Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.</strong>
|
|
J. Med. Genet. 35: 650-656, 1998.
|
|
|
|
|
|
[PubMed: 9719371]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.35.8.650]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Walker, A. P., Muscatelli, F., Monaco, A. P.
|
|
<strong>Isolation of the human Xp21 glycerol kinase gene by positional cloning.</strong>
|
|
Hum. Molec. Genet. 2: 107-114, 1993.
|
|
|
|
|
|
[PubMed: 8499898]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/2.2.107]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Walker, A. P., Muscatelli, F., Stafford, A. N., Chelly, J., Dahl, N., Blomquist, H. K., Delanghe, J., Willems, P. J., Steinmann, B., Monaco, A. P.
|
|
<strong>Mutations and phenotype in isolated glycerol kinase deficiency.</strong>
|
|
Am. J. Hum. Genet. 58: 1205-1211, 1996.
|
|
|
|
|
|
[PubMed: 8651297]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
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<li>
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<p class="mim-text-font">
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Willard, H. F.
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<strong>Cloning of the X-linked glycerol kinase gene.</strong>
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Hum. Molec. Genet. 2: 95-96, 1993.
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[PubMed: 8499911]
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[Full Text: https://doi.org/10.1093/hmg/2.2.95]
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</li>
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Zhang, Y.-H., Dipple, K. M., Vilain, E., Huang, B.-L., Finlayson, G., Therrell, B. L., Worley, K., Deininger, P., McCabe, E. R. B.
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<strong>AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency.</strong>
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Hum. Mutat. 15: 316-323, 2000.
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[PubMed: 10737976]
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[Full Text: https://doi.org/10.1002/(SICI)1098-1004(200004)15:4<316::AID-HUMU3>3.0.CO;2-9]
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<span class="mim-text-font">
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Bao Lige - updated : 10/18/2018<br>Marla J. F. O'Neill - updated : 7/18/2008
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<span class="mim-text-font">
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Cassandra L. Kniffin : 1/30/2004
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mgross : 10/18/2018<br>carol : 02/28/2017<br>carol : 07/28/2015<br>carol : 2/21/2014<br>carol : 2/21/2014<br>wwang : 7/21/2008<br>terry : 7/18/2008<br>terry : 12/17/2007<br>carol : 2/20/2004<br>carol : 2/20/2004<br>ckniffin : 2/5/2004
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