3225 lines
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Entry
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- *613741 - GLYCOGEN PHOSPHORYLASE, LIVER; PYGL
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- OMIM
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<p>
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<span class="h4">*613741</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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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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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#evolution">Evolution</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/613741">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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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<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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<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 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 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=ENSG00000100504;t=ENST00000216392" 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=5836" 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=613741" 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 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=ENSG00000100504;t=ENST00000216392" 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_001163940,NM_002863" 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_002863" 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=613741" 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://www.proteinatlas.org/search/PYGL" 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/183351,183353,3153908,3157406,3170407,3219697,6648082,40675618,71037379,112180335,112180652,112180726,112180741,119586089,119586090,119586091,189053770,194373933,255653002" 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/P06737" 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=5836" 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=ENSG00000100504;t=ENST00000216392" 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=PYGL" 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=PYGL" 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+5836" 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/PYGL" 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:5836" 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/5836" 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=chr14&hgg_gene=ENST00000216392.8&hgg_start=50905217&hgg_end=50944483&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/genes/HGNC:9725" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/pygl" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=613741[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=613741[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/PYGL/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/ENSG00000100504" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=PYGL" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=PYGL" 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=PYGL" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=PYGL&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/PA34068" 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:9725" 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/FBgn0004507.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:97829" 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/PYGL#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:97829" 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/5836/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=5836" 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=WBGene00020696;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-041205-1" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5836" 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=PYGL&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> 29291001<br />
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<strong>ICD10CM:</strong> E74.09<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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613741
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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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GLYCOGEN PHOSPHORYLASE, LIVER; PYGL
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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LGP
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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=PYGL" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PYGL</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/14/229?start=-3&limit=10&highlight=229">14q22.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr14:50905217-50944483&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'})">14:50,905,217-50,944,483</a> </span>
|
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</em>
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
|
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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/14/229?start=-3&limit=10&highlight=229">
|
|
14q22.1
|
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</a>
|
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</span>
|
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</td>
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<td>
|
|
<span class="mim-font">
|
|
Glycogen storage disease VI
|
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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/232700"> 232700 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/613741" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/613741" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>Phosphorylases (<a href="https://enzyme.expasy.org/EC/2.4.1.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 2.4.1.1</a>), such as PYGL, remove glycosyl units from the terminal branches of glycogen through phosphorolysis, forming glucose 1-phosphate. During stress, exercise, hypoxia, and hypoglycemia, phosphorylase activity is primarily regulated by interconversion of the active phosphorylated form and the inactive, nonphosphorylated form (summary by <a href="#3" class="mim-tip-reference" title="Ercan-Fang, N., Gannon, M. C., Rath, V. L., Treadway, J. L., Taylor, M. R., Nuttall, F. Q. <strong>Integrated effects of multiple modulators on human liver glycogen phosphorylase alpha.</strong> Am. J. Physiol. Endocr. Metab. 283: E29-E37, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12067839/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12067839</a>] [<a href="https://doi.org/10.1152/ajpendo.00425.2001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12067839">Ercan-Fang et al., 2002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12067839" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Newgard, C. B., Nakano, K., Hwang, P. K., Fletterick, R. J. <strong>Sequence analysis of the cDNA encoding human liver glycogen phosphorylase reveals tissue-specific codon usage.</strong> Proc. Nat. Acad. Sci. 83: 8132-8136, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2877458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2877458</a>] [<a href="https://doi.org/10.1073/pnas.83.21.8132" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2877458">Newgard et al. (1986)</a> reported the cDNA sequence encoding human liver glycogen phosphorylase. The deduced protein contains 845 amino acids. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2877458" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Burwinkel, B., Bakker, H. D., Herschkovitz, E., Moses, S. W., Shin, Y. S., Kilimann, M. W. <strong>Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI (Hers disease).</strong> Am. J. Hum. Genet. 62: 785-791, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9529348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9529348</a>] [<a href="https://doi.org/10.1086/301790" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9529348">Burwinkel et al. (1998)</a> reported corrections in the previously reported PYGL coding sequence and polymorphisms in that sequence. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9529348" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Burwinkel, B., Bakker, H. D., Herschkovitz, E., Moses, S. W., Shin, Y. S., Kilimann, M. W. <strong>Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI (Hers disease).</strong> Am. J. Hum. Genet. 62: 785-791, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9529348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9529348</a>] [<a href="https://doi.org/10.1086/301790" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9529348">Burwinkel et al. (1998)</a> reported a partial PYGL gene structure showing introns in the same positions as in PYGM (<a href="/entry/608455">608455</a>), which encodes the muscle isoform of phosphorylase. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9529348" 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 the method of chromosome sorting and spot blotting, <a href="#7" class="mim-tip-reference" title="Newgard, C. B., Fletterick, R. J., Anderson, L. A., Lebo, R. V. <strong>The polymorphic locus for glycogen storage disease VI (liver glycogen phosphorylase) maps to chromosome 14.</strong> Am. J. Hum. Genet. 40: 351-364, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2883891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2883891</a>]" pmid="2883891">Newgard et al. (1987)</a> assigned the structural gene for hepatic phosphorylase to chromosome 14. The gene in the mouse maps to chromosome 12 (<a href="#5" class="mim-tip-reference" title="Glaser, T., Matthews, K. E., Hudson, J. W., Seth, P., Housman, D. E., Crerar, M. M. <strong>Localization of the muscle, liver and brain glycogen phosphorylase genes on linkage maps of mouse chromosomes 19, 12 and 2, respectively.</strong> Genomics 5: 510-521, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2575583/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2575583</a>] [<a href="https://doi.org/10.1016/0888-7543(89)90017-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2575583">Glaser et al., 1989</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2575583+2883891" 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="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 5/20/2011."None>Gross (2011)</a> mapped the PYGL gene to chromosome 14q22.1 based on an alignment of the PYGL sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AF046785" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AF046785</a>) with the genomic sequence (GRCh37).</p>
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<p>Using recombinant proteins expressed in insect cells, <a href="#3" class="mim-tip-reference" title="Ercan-Fang, N., Gannon, M. C., Rath, V. L., Treadway, J. L., Taylor, M. R., Nuttall, F. Q. <strong>Integrated effects of multiple modulators on human liver glycogen phosphorylase alpha.</strong> Am. J. Physiol. Endocr. Metab. 283: E29-E37, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12067839/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12067839</a>] [<a href="https://doi.org/10.1152/ajpendo.00425.2001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12067839">Ercan-Fang et al. (2002)</a> measured the effects of small molecular mass molecules on the phosphorylase activities of the rat and human LGP active forms (LGPa). When added individually at estimated physiologic concentrations, AMP stimulated, whereas ADP, ATP, and glucose inhibited, both enzymes. However, glucose inhibition was about 2-fold more potent with the human enzyme. UDP-glucose, glucose 6-phosphate, and fructose 1-phosphate were only minor inhibitors of both enzymes. When all effectors were present in combination at estimated intracellular concentrations, the net effect reduced human LGPa activity, but it had little effect on rat Lgpa activity. This inhibition of human LGPa was glucose dependent. <a href="#3" class="mim-tip-reference" title="Ercan-Fang, N., Gannon, M. C., Rath, V. L., Treadway, J. L., Taylor, M. R., Nuttall, F. Q. <strong>Integrated effects of multiple modulators on human liver glycogen phosphorylase alpha.</strong> Am. J. Physiol. Endocr. Metab. 283: E29-E37, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12067839/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12067839</a>] [<a href="https://doi.org/10.1152/ajpendo.00425.2001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12067839">Ercan-Fang et al. (2002)</a> concluded that glucose may be a major regulator of human LGPa activity, since glucose concentration changes greatly with feeding and fasting. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12067839" 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 3 patients with glycogen storage disease VI (GSD6; <a href="/entry/232700">232700</a>), also known as Hers disease, <a href="#1" class="mim-tip-reference" title="Burwinkel, B., Bakker, H. D., Herschkovitz, E., Moses, S. W., Shin, Y. S., Kilimann, M. W. <strong>Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI (Hers disease).</strong> Am. J. Hum. Genet. 62: 785-791, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9529348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9529348</a>] [<a href="https://doi.org/10.1086/301790" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9529348">Burwinkel et al. (1998)</a> identified mutations in the PYGL gene in homozygous or compound heterozygous state (<a href="#0001">613741.0001</a>-<a href="#0004">613741.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9529348" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By sequencing genomic DNA in a Mennonite family segregating glycogen storage disease VI, <a href="#2" class="mim-tip-reference" title="Chang, S., Rosenberg, M. J., Morton, H., Francomano, C. A., Biesecker, L. G. <strong>Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI.</strong> Hum. Molec. Genet. 7: 865-870, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9536091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9536091</a>] [<a href="https://doi.org/10.1093/hmg/7.5.865" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9536091">Chang et al. (1998)</a> identified a homozygous abnormality of the intron 13 splice donor (<a href="#0005">613741.0005</a>). This mutation was estimated to be present on 3% of Mennonite chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9536091" 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="#9" class="mim-tip-reference" title="Roscher, A., Patel, J., Hewson, S., Nagy, L., Feigenbaum, A., Kronick, J., Raiman, J., Schulze, A., Siriwardena, K., Mercimek-Mahmutoglu, S. <strong>The natural history of glycogen storage disease types VI and IX: long-term outcome from the largest metabolic center in Canada.</strong> Molec. Genet. Metab. 113: 171-176, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25266922/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25266922</a>] [<a href="https://doi.org/10.1016/j.ymgme.2014.09.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25266922">Roscher et al. (2014)</a> reported 4 novel mutations in the PYGL gene resulting in GSD VI. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25266922" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Newgard, C. B., Nakano, K., Hwang, P. K., Fletterick, R. J. <strong>Sequence analysis of the cDNA encoding human liver glycogen phosphorylase reveals tissue-specific codon usage.</strong> Proc. Nat. Acad. Sci. 83: 8132-8136, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2877458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2877458</a>] [<a href="https://doi.org/10.1073/pnas.83.21.8132" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2877458">Newgard et al. (1986)</a> compared the human liver phosphorylase cDNA sequence with the previously determined rabbit muscle phosphorylase sequence. Despite an amino acid identity of 80%, the 2 cDNAs exhibited a remarkable divergence in G+C content. In the sequence for muscle phosphorylase, 86% of the nucleotides at the third codon position are either deoxyguanosine or deoxycytidine residues whereas in the liver homolog the figure is only 60%. The liver phosphorylase cDNA appeared to represent an evolutionary mosaic; the segment encoding the N-terminal 80 amino acids contained more than 90% G+C at the third codon position. <a href="#8" class="mim-tip-reference" title="Newgard, C. B., Nakano, K., Hwang, P. K., Fletterick, R. J. <strong>Sequence analysis of the cDNA encoding human liver glycogen phosphorylase reveals tissue-specific codon usage.</strong> Proc. Nat. Acad. Sci. 83: 8132-8136, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2877458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2877458</a>] [<a href="https://doi.org/10.1073/pnas.83.21.8132" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2877458">Newgard et al. (1986)</a> proposed that the high G+C content in the N-terminal region of the liver message indicates that this segment was spliced onto the liver gene from the muscle gene long after the divergence of liver and muscle tissues. This appears to be evidence for exon shuffling as proposed by <a href="#4" class="mim-tip-reference" title="Gilbert, W. <strong>Why genes in pieces?</strong> Nature 271: 501 only, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/622185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">622185</a>] [<a href="https://doi.org/10.1038/271501a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="622185">Gilbert (1978)</a>. <a href="#8" class="mim-tip-reference" title="Newgard, C. B., Nakano, K., Hwang, P. K., Fletterick, R. J. <strong>Sequence analysis of the cDNA encoding human liver glycogen phosphorylase reveals tissue-specific codon usage.</strong> Proc. Nat. Acad. Sci. 83: 8132-8136, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2877458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2877458</a>] [<a href="https://doi.org/10.1073/pnas.83.21.8132" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2877458">Newgard et al. (1986)</a> considered it of interest, however, that organisms such as the thermophilic bacteria and the protozoan Leischmania, which are exposed to environmental stresses of high temperature and low pH, respectively, have high G+C content in their coding sequences, presumably because the greatest stability of G-C basepairs aids the processes of gene replication, transcription, and, to a lesser extent, translation. Possibly skeletal muscle, which undergoes a fall in pH and a rise in temperature during exercise, represents a similarly stressful environment that selectively maintains high G+C content in expressed genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2877458+622185" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>5 Selected Examples</a>):</strong>
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<a href="/allelicVariants/613741" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=613741[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs113993982 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs113993982;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/rs113993982?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=rs113993982" 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=rs113993982" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012772" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012772" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012772</a>
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<p>In a 4.5-year-old boy with glycogen storage disease VI (GSD6; <a href="/entry/232700">232700</a>), the son of first-cousin Israeli-Arab Bedouin parents, <a href="#1" class="mim-tip-reference" title="Burwinkel, B., Bakker, H. D., Herschkovitz, E., Moses, S. W., Shin, Y. S., Kilimann, M. W. <strong>Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI (Hers disease).</strong> Am. J. Hum. Genet. 62: 785-791, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9529348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9529348</a>] [<a href="https://doi.org/10.1086/301790" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9529348">Burwinkel et al. (1998)</a> described a splice site mutation. The patient presented at 2 years of age with hepatomegaly and growth retardation, but had no clinical history of fasting hypoglycemia. He was found to be homozygous for an insertion of 119 nucleotides in codon R589, resulting in a frameshift and introducing a stop codon after 5 missense codons. Sequencing showed that the insert was an intron, presumably intron 14, but with a G-to-A replacement in the GT consensus dinucleotide of the 5-prime splice site. This splice site mutation thus led to the retention of intron 14 and 2 aberrant splice products employing neighboring GT dinucleotides in exon 14 and in intron 14, respectively, as illegitimate 5-prime splice sites. Both parents were heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9529348" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs113993974 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs113993974;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=rs113993974" 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=rs113993974" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012773" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012773" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012773</a>
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<p>In a boy with glycogen storage disease VI (GSD6; <a href="/entry/232700">232700</a>), the son of unrelated and healthy parents of Suriname Hindustani background, <a href="#1" class="mim-tip-reference" title="Burwinkel, B., Bakker, H. D., Herschkovitz, E., Moses, S. W., Shin, Y. S., Kilimann, M. W. <strong>Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI (Hers disease).</strong> Am. J. Hum. Genet. 62: 785-791, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9529348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9529348</a>] [<a href="https://doi.org/10.1086/301790" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9529348">Burwinkel et al. (1998)</a> identified a splice site mutation in the PYGL gene. The patient presented at age 2 years with hepatomegaly and severe growth retardation. Transaminases were intermittently elevated. Marked glycogen storage in hepatocytes was demonstrated. There was no known parental consanguinity. The child was found to be heterozygous for a G-to-C substitution in the AG consensus of the 3-prime splice site of intron 4 of the PYGL gene. Two missense mutations, val221 to ile (V221I) and asn338 to ser (N338S), were found on the other allele. <a href="#1" class="mim-tip-reference" title="Burwinkel, B., Bakker, H. D., Herschkovitz, E., Moses, S. W., Shin, Y. S., Kilimann, M. W. <strong>Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI (Hers disease).</strong> Am. J. Hum. Genet. 62: 785-791, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9529348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9529348</a>] [<a href="https://doi.org/10.1086/301790" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9529348">Burwinkel et al. (1998)</a> thought that the N338S mutation was probably the second disease mutation because codon N338 is absolutely conserved in all 3 isoforms of glycogen phosphorylase and also conserved in plants, yeast, and bacterial phosphorylases; the same cannot be said for the V221. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9529348" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 GLYCOGEN STORAGE DISEASE VI</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs113993976 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs113993976;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=rs113993976" 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=rs113993976" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000031853" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000031853" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000031853</a>
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<p>See <a href="#0002">613741.0002</a> and <a href="#1" class="mim-tip-reference" title="Burwinkel, B., Bakker, H. D., Herschkovitz, E., Moses, S. W., Shin, Y. S., Kilimann, M. W. <strong>Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI (Hers disease).</strong> Am. J. Hum. Genet. 62: 785-791, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9529348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9529348</a>] [<a href="https://doi.org/10.1086/301790" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9529348">Burwinkel et al. (1998)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9529348" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs113993977 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs113993977;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=rs113993977" 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=rs113993977" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012775" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012775" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012775</a>
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<p>In a girl with glycogen storage disease VI (GSD6; <a href="/entry/232700">232700</a>), the daughter of consanguineous Turkish parents, <a href="#1" class="mim-tip-reference" title="Burwinkel, B., Bakker, H. D., Herschkovitz, E., Moses, S. W., Shin, Y. S., Kilimann, M. W. <strong>Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI (Hers disease).</strong> Am. J. Hum. Genet. 62: 785-791, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9529348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9529348</a>] [<a href="https://doi.org/10.1086/301790" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9529348">Burwinkel et al. (1998)</a> found homozygosity for an asn376-to-lys missense (N376K) mutation in the PYGL gene. The patient presented with hepatomegaly at the age of 1 year. Body length was at the fiftieth percentile, but weight was at the tenth percentile. Transaminases, triglycerides, and cholesterol were elevated. There was a heavy accumulation of glycogen in the liver. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9529348" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 GLYCOGEN STORAGE DISEASE VI</strong>
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PYGL, IVS13DS, G-A, +1
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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> rs113993981 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs113993981;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/rs113993981?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=rs113993981" 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=rs113993981" 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=RCV000012776" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012776" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012776</a>
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</span>
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<span class="mim-text-font">
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<p>In affected members of a Mennonite kindred with an autosomal recessive form of glycogen storage disease (GSD6; <a href="/entry/232700">232700</a>), <a href="#2" class="mim-tip-reference" title="Chang, S., Rosenberg, M. J., Morton, H., Francomano, C. A., Biesecker, L. G. <strong>Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI.</strong> Hum. Molec. Genet. 7: 865-870, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9536091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9536091</a>] [<a href="https://doi.org/10.1093/hmg/7.5.865" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9536091">Chang et al. (1998)</a> found that the consensus GT at the splice donor site of intron 13 was converted to AT in the PYGL gene. This mutation predicts a PYGL protein with a deletion of either 3 or 34 amino acids. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9536091" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<br />
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<div>
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<a id="references"class="mim-anchor"></a>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
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<ol>
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<li>
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<a id="1" class="mim-anchor"></a>
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<a id="Burwinkel1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Burwinkel, B., Bakker, H. D., Herschkovitz, E., Moses, S. W., Shin, Y. S., Kilimann, M. W.
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<strong>Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI (Hers disease).</strong>
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Am. J. Hum. Genet. 62: 785-791, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9529348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9529348</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9529348" 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/10.1086/301790" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="2" class="mim-anchor"></a>
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<a id="Chang1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Chang, S., Rosenberg, M. J., Morton, H., Francomano, C. A., Biesecker, L. G.
|
|
<strong>Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI.</strong>
|
|
Hum. Molec. Genet. 7: 865-870, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9536091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9536091</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9536091" 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/7.5.865" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Ercan-Fang2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ercan-Fang, N., Gannon, M. C., Rath, V. L., Treadway, J. L., Taylor, M. R., Nuttall, F. Q.
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<strong>Integrated effects of multiple modulators on human liver glycogen phosphorylase alpha.</strong>
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|
Am. J. Physiol. Endocr. Metab. 283: E29-E37, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12067839/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12067839</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12067839" 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/10.1152/ajpendo.00425.2001" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Gilbert1978" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Gilbert, W.
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<strong>Why genes in pieces?</strong>
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Nature 271: 501 only, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/622185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">622185</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=622185" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/271501a0" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Glaser1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Glaser, T., Matthews, K. E., Hudson, J. W., Seth, P., Housman, D. E., Crerar, M. M.
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<strong>Localization of the muscle, liver and brain glycogen phosphorylase genes on linkage maps of mouse chromosomes 19, 12 and 2, respectively.</strong>
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Genomics 5: 510-521, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2575583/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2575583</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2575583" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0888-7543(89)90017-7" target="_blank">Full Text</a>]
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Gross2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 5/20/2011.
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<a id="7" class="mim-anchor"></a>
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<a id="Newgard1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Newgard, C. B., Fletterick, R. J., Anderson, L. A., Lebo, R. V.
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<strong>The polymorphic locus for glycogen storage disease VI (liver glycogen phosphorylase) maps to chromosome 14.</strong>
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Am. J. Hum. Genet. 40: 351-364, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2883891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2883891</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2883891" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Newgard1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Newgard, C. B., Nakano, K., Hwang, P. K., Fletterick, R. J.
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<strong>Sequence analysis of the cDNA encoding human liver glycogen phosphorylase reveals tissue-specific codon usage.</strong>
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Proc. Nat. Acad. Sci. 83: 8132-8136, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2877458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2877458</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2877458" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.83.21.8132" target="_blank">Full Text</a>]
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Roscher2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Roscher, A., Patel, J., Hewson, S., Nagy, L., Feigenbaum, A., Kronick, J., Raiman, J., Schulze, A., Siriwardena, K., Mercimek-Mahmutoglu, S.
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<strong>The natural history of glycogen storage disease types VI and IX: long-term outcome from the largest metabolic center in Canada.</strong>
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Molec. Genet. Metab. 113: 171-176, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25266922/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25266922</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25266922" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ymgme.2014.09.005" 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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Ada Hamosh - updated : 05/27/2015
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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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Matthew B. Gross - updated : 5/20/2011<br>Patricia A. Hartz - updated : 4/8/2011
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<a id="creationDate" class="mim-anchor"></a>
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Carol A. Bocchini : 2/14/2011
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carol : 07/11/2019
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alopez : 05/27/2015<br>mcolton : 4/28/2014<br>mgross : 5/20/2011<br>terry : 4/8/2011<br>terry : 2/15/2011<br>carol : 2/14/2011<br>carol : 2/14/2011
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<strong>*</strong> 613741
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<span class="mim-font">
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GLYCOGEN PHOSPHORYLASE, LIVER; PYGL
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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LGP
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<strong><em>HGNC Approved Gene Symbol: PYGL</em></strong>
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<strong>SNOMEDCT:</strong> 29291001;
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<strong>ICD10CM:</strong> E74.09;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
|
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<strong>
|
|
<em>
|
|
Cytogenetic location: 14q22.1
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 14:50,905,217-50,944,483 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</div>
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<div>
|
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<br />
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</div>
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
14q22.1
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Glycogen storage disease VI
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
232700
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
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|
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|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
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|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Phosphorylases (EC 2.4.1.1), such as PYGL, remove glycosyl units from the terminal branches of glycogen through phosphorolysis, forming glucose 1-phosphate. During stress, exercise, hypoxia, and hypoglycemia, phosphorylase activity is primarily regulated by interconversion of the active phosphorylated form and the inactive, nonphosphorylated form (summary by Ercan-Fang et al., 2002). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Newgard et al. (1986) reported the cDNA sequence encoding human liver glycogen phosphorylase. The deduced protein contains 845 amino acids. </p><p>Burwinkel et al. (1998) reported corrections in the previously reported PYGL coding sequence and polymorphisms in that sequence. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Burwinkel et al. (1998) reported a partial PYGL gene structure showing introns in the same positions as in PYGM (608455), which encodes the muscle isoform of phosphorylase. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>By the method of chromosome sorting and spot blotting, Newgard et al. (1987) assigned the structural gene for hepatic phosphorylase to chromosome 14. The gene in the mouse maps to chromosome 12 (Glaser et al., 1989). </p><p>Gross (2011) mapped the PYGL gene to chromosome 14q22.1 based on an alignment of the PYGL sequence (GenBank AF046785) with the genomic sequence (GRCh37).</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Using recombinant proteins expressed in insect cells, Ercan-Fang et al. (2002) measured the effects of small molecular mass molecules on the phosphorylase activities of the rat and human LGP active forms (LGPa). When added individually at estimated physiologic concentrations, AMP stimulated, whereas ADP, ATP, and glucose inhibited, both enzymes. However, glucose inhibition was about 2-fold more potent with the human enzyme. UDP-glucose, glucose 6-phosphate, and fructose 1-phosphate were only minor inhibitors of both enzymes. When all effectors were present in combination at estimated intracellular concentrations, the net effect reduced human LGPa activity, but it had little effect on rat Lgpa activity. This inhibition of human LGPa was glucose dependent. Ercan-Fang et al. (2002) concluded that glucose may be a major regulator of human LGPa activity, since glucose concentration changes greatly with feeding and fasting. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In 3 patients with glycogen storage disease VI (GSD6; 232700), also known as Hers disease, Burwinkel et al. (1998) identified mutations in the PYGL gene in homozygous or compound heterozygous state (613741.0001-613741.0004). </p><p>By sequencing genomic DNA in a Mennonite family segregating glycogen storage disease VI, Chang et al. (1998) identified a homozygous abnormality of the intron 13 splice donor (613741.0005). This mutation was estimated to be present on 3% of Mennonite chromosomes. </p><p>Roscher et al. (2014) reported 4 novel mutations in the PYGL gene resulting in GSD VI. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Evolution</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Newgard et al. (1986) compared the human liver phosphorylase cDNA sequence with the previously determined rabbit muscle phosphorylase sequence. Despite an amino acid identity of 80%, the 2 cDNAs exhibited a remarkable divergence in G+C content. In the sequence for muscle phosphorylase, 86% of the nucleotides at the third codon position are either deoxyguanosine or deoxycytidine residues whereas in the liver homolog the figure is only 60%. The liver phosphorylase cDNA appeared to represent an evolutionary mosaic; the segment encoding the N-terminal 80 amino acids contained more than 90% G+C at the third codon position. Newgard et al. (1986) proposed that the high G+C content in the N-terminal region of the liver message indicates that this segment was spliced onto the liver gene from the muscle gene long after the divergence of liver and muscle tissues. This appears to be evidence for exon shuffling as proposed by Gilbert (1978). Newgard et al. (1986) considered it of interest, however, that organisms such as the thermophilic bacteria and the protozoan Leischmania, which are exposed to environmental stresses of high temperature and low pH, respectively, have high G+C content in their coding sequences, presumably because the greatest stability of G-C basepairs aids the processes of gene replication, transcription, and, to a lesser extent, translation. Possibly skeletal muscle, which undergoes a fall in pH and a rise in temperature during exercise, represents a similarly stressful environment that selectively maintains high G+C content in expressed genes. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>5 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 GLYCOGEN STORAGE DISEASE VI</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PYGL, IVS14DS, G-A, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs113993982,
|
|
|
|
|
|
gnomAD: rs113993982,
|
|
|
|
|
|
ClinVar: RCV000012772
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 4.5-year-old boy with glycogen storage disease VI (GSD6; 232700), the son of first-cousin Israeli-Arab Bedouin parents, Burwinkel et al. (1998) described a splice site mutation. The patient presented at 2 years of age with hepatomegaly and growth retardation, but had no clinical history of fasting hypoglycemia. He was found to be homozygous for an insertion of 119 nucleotides in codon R589, resulting in a frameshift and introducing a stop codon after 5 missense codons. Sequencing showed that the insert was an intron, presumably intron 14, but with a G-to-A replacement in the GT consensus dinucleotide of the 5-prime splice site. This splice site mutation thus led to the retention of intron 14 and 2 aberrant splice products employing neighboring GT dinucleotides in exon 14 and in intron 14, respectively, as illegitimate 5-prime splice sites. Both parents were heterozygous for the mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 GLYCOGEN STORAGE DISEASE VI</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PYGL, IVS4AS, G-C, -1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs113993974,
|
|
|
|
|
|
|
|
ClinVar: RCV000012773
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a boy with glycogen storage disease VI (GSD6; 232700), the son of unrelated and healthy parents of Suriname Hindustani background, Burwinkel et al. (1998) identified a splice site mutation in the PYGL gene. The patient presented at age 2 years with hepatomegaly and severe growth retardation. Transaminases were intermittently elevated. Marked glycogen storage in hepatocytes was demonstrated. There was no known parental consanguinity. The child was found to be heterozygous for a G-to-C substitution in the AG consensus of the 3-prime splice site of intron 4 of the PYGL gene. Two missense mutations, val221 to ile (V221I) and asn338 to ser (N338S), were found on the other allele. Burwinkel et al. (1998) thought that the N338S mutation was probably the second disease mutation because codon N338 is absolutely conserved in all 3 isoforms of glycogen phosphorylase and also conserved in plants, yeast, and bacterial phosphorylases; the same cannot be said for the V221. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 GLYCOGEN STORAGE DISEASE VI</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PYGL, ASN338SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs113993976,
|
|
|
|
|
|
|
|
ClinVar: RCV000031853
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See 613741.0002 and Burwinkel et al. (1998). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 GLYCOGEN STORAGE DISEASE VI</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PYGL, ASN376LYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs113993977,
|
|
|
|
|
|
|
|
ClinVar: RCV000012775
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a girl with glycogen storage disease VI (GSD6; 232700), the daughter of consanguineous Turkish parents, Burwinkel et al. (1998) found homozygosity for an asn376-to-lys missense (N376K) mutation in the PYGL gene. The patient presented with hepatomegaly at the age of 1 year. Body length was at the fiftieth percentile, but weight was at the tenth percentile. Transaminases, triglycerides, and cholesterol were elevated. There was a heavy accumulation of glycogen in the liver. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 GLYCOGEN STORAGE DISEASE VI</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PYGL, IVS13DS, G-A, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs113993981,
|
|
|
|
|
|
gnomAD: rs113993981,
|
|
|
|
|
|
ClinVar: RCV000012776
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a Mennonite kindred with an autosomal recessive form of glycogen storage disease (GSD6; 232700), Chang et al. (1998) found that the consensus GT at the splice donor site of intron 13 was converted to AT in the PYGL gene. This mutation predicts a PYGL protein with a deletion of either 3 or 34 amino acids. </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">
|
|
Burwinkel, B., Bakker, H. D., Herschkovitz, E., Moses, S. W., Shin, Y. S., Kilimann, M. W.
|
|
<strong>Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI (Hers disease).</strong>
|
|
Am. J. Hum. Genet. 62: 785-791, 1998.
|
|
|
|
|
|
[PubMed: 9529348]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/301790]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chang, S., Rosenberg, M. J., Morton, H., Francomano, C. A., Biesecker, L. G.
|
|
<strong>Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI.</strong>
|
|
Hum. Molec. Genet. 7: 865-870, 1998.
|
|
|
|
|
|
[PubMed: 9536091]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/7.5.865]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ercan-Fang, N., Gannon, M. C., Rath, V. L., Treadway, J. L., Taylor, M. R., Nuttall, F. Q.
|
|
<strong>Integrated effects of multiple modulators on human liver glycogen phosphorylase alpha.</strong>
|
|
Am. J. Physiol. Endocr. Metab. 283: E29-E37, 2002.
|
|
|
|
|
|
[PubMed: 12067839]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1152/ajpendo.00425.2001]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gilbert, W.
|
|
<strong>Why genes in pieces?</strong>
|
|
Nature 271: 501 only, 1978.
|
|
|
|
|
|
[PubMed: 622185]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/271501a0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Glaser, T., Matthews, K. E., Hudson, J. W., Seth, P., Housman, D. E., Crerar, M. M.
|
|
<strong>Localization of the muscle, liver and brain glycogen phosphorylase genes on linkage maps of mouse chromosomes 19, 12 and 2, respectively.</strong>
|
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Genomics 5: 510-521, 1989.
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[PubMed: 2575583]
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[Full Text: https://doi.org/10.1016/0888-7543(89)90017-7]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 5/20/2011.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Newgard, C. B., Fletterick, R. J., Anderson, L. A., Lebo, R. V.
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<strong>The polymorphic locus for glycogen storage disease VI (liver glycogen phosphorylase) maps to chromosome 14.</strong>
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Am. J. Hum. Genet. 40: 351-364, 1987.
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[PubMed: 2883891]
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</p>
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<p class="mim-text-font">
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Newgard, C. B., Nakano, K., Hwang, P. K., Fletterick, R. J.
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<strong>Sequence analysis of the cDNA encoding human liver glycogen phosphorylase reveals tissue-specific codon usage.</strong>
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Proc. Nat. Acad. Sci. 83: 8132-8136, 1986.
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[PubMed: 2877458]
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[Full Text: https://doi.org/10.1073/pnas.83.21.8132]
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Roscher, A., Patel, J., Hewson, S., Nagy, L., Feigenbaum, A., Kronick, J., Raiman, J., Schulze, A., Siriwardena, K., Mercimek-Mahmutoglu, S.
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<strong>The natural history of glycogen storage disease types VI and IX: long-term outcome from the largest metabolic center in Canada.</strong>
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Molec. Genet. Metab. 113: 171-176, 2014.
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[PubMed: 25266922]
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[Full Text: https://doi.org/10.1016/j.ymgme.2014.09.005]
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Ada Hamosh - updated : 05/27/2015<br>Matthew B. Gross - updated : 5/20/2011<br>Patricia A. Hartz - updated : 4/8/2011
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