3270 lines
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- *172490 - PHOSPHORYLASE KINASE, BETA SUBUNIT; PHKB
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- OMIM
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<p>
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<span class="h4">*172490</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/172490">Table View</a>
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<a href="#seeAlso"><strong>See Also</strong></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 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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<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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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000102893;t=ENST00000323584" 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=5257" 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=172490" 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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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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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=ENSG00000102893;t=ENST00000323584" 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_000293,NM_001031835,NM_001363837" 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_000293" 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=172490" 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 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="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=01407&isoform_id=01407_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/PHKB" 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/1502311,1502345,2499582,3087792,4505783,21708110,73611906,119603106,119603107,193784784,194375458,1394533419" 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/Q93100" 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 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=5257" 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=ENSG00000102893;t=ENST00000323584" 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=PHKB" 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=PHKB" 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+5257" 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/PHKB" 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:5257" 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/5257" 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=chr16&hgg_gene=ENST00000323584.10&hgg_start=47461299&hgg_end=47701523&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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8927" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:8927" 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/phkb" 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=172490[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=172490[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000102893" 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=PHKB" 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=PHKB" 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=PHKB" 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=PHKB&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/PA33268" 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:8927" 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/FBgn0031995.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:97578" 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/PHKB#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:97578" 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/5257/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=5257" 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=WBGene00022059;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-110411-149" 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:5257" 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=PHKB&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> 860860004<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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172490
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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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PHOSPHORYLASE KINASE, BETA SUBUNIT; PHKB
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=PHKB" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PHKB</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/16/414?start=-3&limit=10&highlight=414">16q12.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr16:47461299-47701523&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'})">16:47,461,299-47,701,523</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
|
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<a href="/geneMap/16/414?start=-3&limit=10&highlight=414">
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16q12.1
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Phosphorylase kinase deficiency of liver and muscle, autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/261750"> 261750 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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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/172490" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/172490" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div>
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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<p>The PHKB gene encodes the beta subunit of phosphorylase kinase (PHK; <a href="https://enzyme.expasy.org/EC/2.7.11.19" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 2.7.11.19</a>). Phosphorylase kinase is a hexadecameric enzyme comprising 4 copies each of 4 unique subunits encoded by 4 different genes: alpha (PHKA1 (<a href="/entry/311870">311870</a>) and PHKA2 (<a href="/entry/300798">300798</a>), the skeletal muscle and hepatic isoforms, respectively); beta (PHKB); gamma (PHKG1 (<a href="/entry/172470">172470</a>) and PHKG2 (<a href="/entry/172471">172471</a>), the skeletal muscle and hepatic isoforms, respectively); and delta. The delta subunit can be encoded by 3 different genes (CALM1, <a href="/entry/114180">114180</a>, CALM2, <a href="/entry/114182">114182</a>, or CALM3, <a href="/entry/114183">114183</a>). The beta subunit is the same in both the muscle and hepatic isoforms. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit, which encodes calmodulin, mediates the dependence of the enzyme on calcium concentration (<a href="#2" class="mim-tip-reference" title="Beauchamp, N. J., Dalton, A., Ramaswami, U., Niinikoski, H., Mention, K., Kenny, P., Kolho, K.-L., Raiman, J., Walter, J., Treacy, E., Tanner, S., Sharrard, M. <strong>Glycogen storage disease type IX: high variability in clinical phenotype.</strong> Molec. Genet. Metab. 92: 88-99, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17689125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17689125</a>] [<a href="https://doi.org/10.1016/j.ymgme.2007.06.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17689125">Beauchamp et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17689125" 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="#6" class="mim-tip-reference" title="Kilimann, M. W., Zander, N. F., Kuhn, C. C., Crabb, J. W., Meyer, H. E., Heilmeyer, L. M. G., Jr. <strong>The alpha and beta subunits of phosphorylase kinase are homologous: cDNA cloning and primary structure of the beta subunit.</strong> Proc. Nat. Acad. Sci. 85: 9381-9385, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3200826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3200826</a>] [<a href="https://doi.org/10.1073/pnas.85.24.9381" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3200826">Kilimann et al. (1988)</a> and <a href="#10" class="mim-tip-reference" title="Zander, N. F., Meyer, H. E., Hoffmann-Posorske, E., Crabb, J. W., Heilmeyer, L. M. G., Jr., Kilimann, M. W. <strong>cDNA cloning and complete primary structure of skeletal muscle phosphorylase kinase (alpha subunit).</strong> Proc. Nat. Acad. Sci. 85: 2929-2933, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3362857/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3362857</a>] [<a href="https://doi.org/10.1073/pnas.85.9.2929" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3362857">Zander et al. (1988)</a> cloned DNA sequences encoding the alpha and beta PHK subunits from a rabbit muscle cDNA library. The deduced alpha and beta polypeptides are 1,237 and 1,092 amino acids long, respectively, and contain extensive regions of sequence homology. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3362857+3200826" 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="Wullrich-Schmoll, A., Kilimann, M. W. <strong>Structure of the human gene encoding the phosphorylase kinase beta subunit (PHKB).</strong> Europ. J. Biochem. 238: 374-380, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8681948/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8681948</a>] [<a href="https://doi.org/10.1111/j.1432-1033.1996.0374z.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8681948">Wullrich-Schmoll and Kilimann (1996)</a> cloned the human PHKB gene and found that the deduced protein shares 95% amino acid sequence identity with the rabbit protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8681948" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#9" class="mim-tip-reference" title="Wullrich-Schmoll, A., Kilimann, M. W. <strong>Structure of the human gene encoding the phosphorylase kinase beta subunit (PHKB).</strong> Europ. J. Biochem. 238: 374-380, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8681948/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8681948</a>] [<a href="https://doi.org/10.1111/j.1432-1033.1996.0374z.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8681948">Wullrich-Schmoll and Kilimann (1996)</a> determined that the PHKB gene contains 33 exons and spans at least 140 kb. Exons 26 and 27 are 2 homologous, mutually exclusively spliced exons in the middle of the gene; exon 2 is a facultatively utilized cassette exon encoding an alternative N terminus of the beta-subunit. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8681948" 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 Southern blot analysis of rodent-human somatic cell hybrids and by in situ hybridization, <a href="#5" class="mim-tip-reference" title="Francke, U., Darras, B. T., Zander, N. F., Kilimann, M. W. <strong>Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13.</strong> Am. J. Hum. Genet. 45: 276-282, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2757032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2757032</a>]" pmid="2757032">Francke et al. (1989)</a> mapped the human PHKB gene to chromosome 16q12-q13. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2757032" 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="Wullrich-Schmoll, A., Kilimann, M. W. <strong>Structure of the human gene encoding the phosphorylase kinase beta subunit (PHKB).</strong> Europ. J. Biochem. 238: 374-380, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8681948/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8681948</a>] [<a href="https://doi.org/10.1111/j.1432-1033.1996.0374z.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8681948">Wullrich-Schmoll and Kilimann (1996)</a> confirmed location of the PHKB gene to chromosome 16 by screening of a chromosome 16-specific genomic library. Two processed pseudogenes were identified. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8681948" 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 1 female and 4 male patients with glycogen storage disease IXb (GSD9B; <a href="/entry/261750">261750</a>) and PHK deficiency in both liver and muscle, <a href="#3" class="mim-tip-reference" title="Burwinkel, B., Maichele, A. J., Aagenaes, O., Bakker, H. D., Lerner, A., Shin, Y. S., Strachan, J. A., Kilimann, M. W. <strong>Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB).</strong> Hum. Molec. Genet. 6: 1109-1115, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9215682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9215682</a>] [<a href="https://doi.org/10.1093/hmg/6.7.1109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9215682">Burwinkel et al. (1997)</a> identified biallelic mutations in the PHKB gene. There were 5 different nonsense mutations (see, e.g., <a href="#0002">172490.0002</a>), a 1-bp insertion (<a href="#0001">172490.0001</a>), a splice site mutation, and a large deletion involving the loss of exon 8. Although the mutations disrupted translation severely and occurred in constitutively expressed sequences of the only known beta-subunit gene of phosphorylase kinase, they were associated with a surprisingly mild clinical phenotype, affecting virtually only the liver, and with a relatively high residual enzyme activity of approximately 10%. Inheritance was autosomal recessive. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9215682" 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="#8" 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 2 novel mutations in the PHKB gene resulting in GSD IXb. <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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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=172490[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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<p>In a patient with glycogen storage disease IXb (GSD9B; <a href="/entry/261750">261750</a>), <a href="#3" class="mim-tip-reference" title="Burwinkel, B., Maichele, A. J., Aagenaes, O., Bakker, H. D., Lerner, A., Shin, Y. S., Strachan, J. A., Kilimann, M. W. <strong>Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB).</strong> Hum. Molec. Genet. 6: 1109-1115, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9215682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9215682</a>] [<a href="https://doi.org/10.1093/hmg/6.7.1109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9215682">Burwinkel et al. (1997)</a> identified compound heterozygosity for 2 mutations in the PHKB gene. On 1 allele, a stretch of 7 A residues in exon 14 was extended by an additional A, resulting in a frameshift in codon 421 and translation termination at the following triplet; on the other allele, a C-to-T transition in exon 21 resulted in a gln656-to-ter (Q656X; <a href="#0002">172490.0002</a>) substitution. Studies in the parents indicated that the frameshift mutation had been inherited from the father and the nonsense mutation from the mother. The patient was the only child of unrelated, healthy German parents and presented at the age of 22 months because of distended abdomen due to hepatomegaly. At the age of 4 years, the child had a height at the tenth percentile and weight at the fiftieth percentile, hepatomegaly, and a tendency to develop hypoglycemic symptoms after several hours of fasting or physical activity. There were no clinical indications of muscle involvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9215682" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs34667348 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34667348;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/rs34667348?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=rs34667348" 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=rs34667348" 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=RCV000014588 OR RCV001171912" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014588, RCV001171912" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014588...</a>
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<p>For discussion of the gln656-to-ter (Q656X) mutation in the PHKB gene that was found in compound heterozygous state in a patient with glycogen storage disease IXb (GSD9B; <a href="/entry/261750">261750</a>) by <a href="#3" class="mim-tip-reference" title="Burwinkel, B., Maichele, A. J., Aagenaes, O., Bakker, H. D., Lerner, A., Shin, Y. S., Strachan, J. A., Kilimann, M. W. <strong>Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB).</strong> Hum. Molec. Genet. 6: 1109-1115, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9215682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9215682</a>] [<a href="https://doi.org/10.1093/hmg/6.7.1109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9215682">Burwinkel et al. (1997)</a>, see <a href="#0001">172490.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9215682" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121918021 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918021;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/rs121918021?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=rs121918021" 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=rs121918021" 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=RCV000014590 OR RCV003993744 OR RCV004755735" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014590, RCV003993744, RCV004755735" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014590...</a>
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<p>In a Norwegian boy with glycogen storage disease type IXb (GSD9B; <a href="/entry/261750">261750</a>), <a href="#3" class="mim-tip-reference" title="Burwinkel, B., Maichele, A. J., Aagenaes, O., Bakker, H. D., Lerner, A., Shin, Y. S., Strachan, J. A., Kilimann, M. W. <strong>Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB).</strong> Hum. Molec. Genet. 6: 1109-1115, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9215682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9215682</a>] [<a href="https://doi.org/10.1093/hmg/6.7.1109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9215682">Burwinkel et al. (1997)</a> identified compound heterozygosity for 2 mutations in the PHKB gene: a tyr418-to-ter (Y418X) substitution, and a double mutation, glu975-to-ter (E975X) and tyr974-to-his (Y974H) (<a href="#0004">172490.0004</a>). The patient and his affected sister were children of unaffected, unrelated parents. They came to medical attention as infants because of hepatomegaly; glucagon response was normal in both (Lederer et al., 1975). Residual phosphorylase kinase activities were 18% of normal in red cell hemolysis of both, 5% in liver of the sister, and 0 to 13% (depending on pH) in muscle of the male. At the age of approximately 25, both patients were fully capable of everyday physical activities, but tended to develop hypoglycemic symptoms upon activity or fasting that were ameliorated by carbohydrate intake. Hepatomegaly had receded; clinical muscle symptoms had never been noted. RT-PCR analysis of RNA from both parents did not yield significant sequence signals for any of the 3 mutations in these sibs. As translation-terminating mutations often result in reduced abundance of the mRNA, <a href="#3" class="mim-tip-reference" title="Burwinkel, B., Maichele, A. J., Aagenaes, O., Bakker, H. D., Lerner, A., Shin, Y. S., Strachan, J. A., Kilimann, M. W. <strong>Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB).</strong> Hum. Molec. Genet. 6: 1109-1115, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9215682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9215682</a>] [<a href="https://doi.org/10.1093/hmg/6.7.1109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9215682">Burwinkel et al. (1997)</a> suspected that this might also be the case for both mutant alleles in this family, so that they would be detectable together in the patient but missed against the background of the higher levels of mRNA from the normal alleles in the parents. In genomic DNA they indeed could identify the Y418X mutation in the father and the double mutation in the mother. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9215682" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs111734407 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111734407;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/rs111734407?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=rs111734407" 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=rs111734407" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <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> rs199948078 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs199948078;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/rs199948078?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=rs199948078" 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=rs199948078" 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=RCV000014591 OR RCV005055785 OR RCV005055786" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014591, RCV005055785, RCV005055786" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014591...</a>
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<p>For discussion of the tyr974-to-his (Y974H) and glu975-to-ter (E975X) double mutation in the PHKB gene that was found in compound heterozygous state in a patient with glycogen storage disease type IXb (GSD9B; <a href="/entry/261750">261750</a>) by <a href="#3" class="mim-tip-reference" title="Burwinkel, B., Maichele, A. J., Aagenaes, O., Bakker, H. D., Lerner, A., Shin, Y. S., Strachan, J. A., Kilimann, M. W. <strong>Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB).</strong> Hum. Molec. Genet. 6: 1109-1115, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9215682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9215682</a>] [<a href="https://doi.org/10.1093/hmg/6.7.1109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9215682">Burwinkel et al. (1997)</a>, see <a href="#0003">172490.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9215682" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121918022 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918022;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/rs121918022?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=rs121918022" 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=rs121918022" 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=RCV000014592 OR RCV003231104 OR RCV004586008" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014592, RCV003231104, RCV004586008" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014592...</a>
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<p>In a patient with glycogen storage disease type IXb (GSD9B; <a href="/entry/261750">261750</a>), <a href="#4" class="mim-tip-reference" title="Burwinkel, B., Moses, S. W., Kilimann, M. W. <strong>Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the beta subunit gene (PHKB).</strong> Hum. Genet. 101: 170-174, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9402963/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9402963</a>] [<a href="https://doi.org/10.1007/s004390050608" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9402963">Burwinkel et al. (1997)</a> found compound heterozygosity for 2 mutations in the PHKB gene: a splice site mutation, IVS4AS-2 A-to-G (<a href="#0006">172490.0006</a>), causing a reading frame-disrupting deletion of exon 5 in the mRNA, and an ala117-to-pro (A117P) missense mutation, also in exon 5. They stated that this was the first missense mutation identified in PHKB; 9 translation-terminating mutations had been described to that time. The patient was a 22-month-old child of North African-Jewish heritage with hepatomegaly and slightly disturbed liver function tests. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9402963" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs797044442 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs797044442;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/rs797044442?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=rs797044442" 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=rs797044442" 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=RCV000014589 OR RCV003398507" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014589, RCV003398507" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014589...</a>
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<p>For discussion of the splice site mutation in the PHKB gene (IVS4AS-2 A-to-G) that was found in compound heterozygous state in a patient with glycogen storage disease type IXb (GSD9B; <a href="/entry/261750">261750</a>) by <a href="#4" class="mim-tip-reference" title="Burwinkel, B., Moses, S. W., Kilimann, M. W. <strong>Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the beta subunit gene (PHKB).</strong> Hum. Genet. 101: 170-174, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9402963/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9402963</a>] [<a href="https://doi.org/10.1007/s004390050608" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9402963">Burwinkel et al. (1997)</a>, see <a href="#0005">172490.0005</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9402963" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Bashan1981" class="mim-tip-reference" title="Bashan, N., Iancu, T. C., Lerner, A., Fraser, D., Potashnik, R., Moses, S. W. <strong>Glycogenosis due to liver and muscle phosphorylase kinase deficiency.</strong> Pediat. Res. 15: 299-303, 1981.">Bashan et al. (1981)</a>; <a href="#Lederer1975" class="mim-tip-reference" title="Lederer, B., Van Hoof, F., Van den Berghe, G., Hers, H. G. <strong>Glycogen phosphorylase and its converter enzymes in haemolysates of normal human subjects and of patients with type VI glycogen storage disease: a study of phosphorylase kinase deficiency.</strong> Biochem. J. 147: 23-35, 1975.">Lederer et al. (1975)</a>
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<strong>REFERENCES</strong>
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Bashan, N., Iancu, T. C., Lerner, A., Fraser, D., Potashnik, R., Moses, S. W.
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<strong>Glycogenosis due to liver and muscle phosphorylase kinase deficiency.</strong>
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Pediat. Res. 15: 299-303, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6938920/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6938920</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6938920" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1203/00006450-198104000-00002" target="_blank">Full Text</a>]
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<a id="Beauchamp2007" class="mim-anchor"></a>
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Beauchamp, N. J., Dalton, A., Ramaswami, U., Niinikoski, H., Mention, K., Kenny, P., Kolho, K.-L., Raiman, J., Walter, J., Treacy, E., Tanner, S., Sharrard, M.
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<strong>Glycogen storage disease type IX: high variability in clinical phenotype.</strong>
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Molec. Genet. Metab. 92: 88-99, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17689125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17689125</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17689125" 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.2007.06.007" target="_blank">Full Text</a>]
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<a id="Burwinkel1997" class="mim-anchor"></a>
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Burwinkel, B., Maichele, A. J., Aagenaes, O., Bakker, H. D., Lerner, A., Shin, Y. S., Strachan, J. A., Kilimann, M. W.
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<strong>Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB).</strong>
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Hum. Molec. Genet. 6: 1109-1115, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9215682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9215682</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9215682" 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/6.7.1109" target="_blank">Full Text</a>]
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<a id="Burwinkel1997" 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., Moses, S. W., Kilimann, M. W.
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<strong>Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the beta subunit gene (PHKB).</strong>
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Hum. Genet. 101: 170-174, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9402963/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9402963</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9402963" 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/10.1007/s004390050608" target="_blank">Full Text</a>]
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<a id="Francke1989" class="mim-anchor"></a>
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<p class="mim-text-font">
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Francke, U., Darras, B. T., Zander, N. F., Kilimann, M. W.
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<strong>Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13.</strong>
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Am. J. Hum. Genet. 45: 276-282, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2757032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2757032</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2757032" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Kilimann1988" class="mim-anchor"></a>
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Kilimann, M. W., Zander, N. F., Kuhn, C. C., Crabb, J. W., Meyer, H. E., Heilmeyer, L. M. G., Jr.
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<strong>The alpha and beta subunits of phosphorylase kinase are homologous: cDNA cloning and primary structure of the beta subunit.</strong>
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Proc. Nat. Acad. Sci. 85: 9381-9385, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3200826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3200826</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3200826" 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.85.24.9381" target="_blank">Full Text</a>]
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<a id="Lederer1975" class="mim-anchor"></a>
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<p class="mim-text-font">
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Lederer, B., Van Hoof, F., Van den Berghe, G., Hers, H. G.
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<strong>Glycogen phosphorylase and its converter enzymes in haemolysates of normal human subjects and of patients with type VI glycogen storage disease: a study of phosphorylase kinase deficiency.</strong>
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Biochem. J. 147: 23-35, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/168880/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">168880</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=168880" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1042/bj1470023" target="_blank">Full Text</a>]
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<a id="Roscher2014" class="mim-anchor"></a>
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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 id="Wullrich-Schmoll1996" class="mim-anchor"></a>
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Wullrich-Schmoll, A., Kilimann, M. W.
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<strong>Structure of the human gene encoding the phosphorylase kinase beta subunit (PHKB).</strong>
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Europ. J. Biochem. 238: 374-380, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8681948/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8681948</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8681948" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1432-1033.1996.0374z.x" target="_blank">Full Text</a>]
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<a id="Zander1988" class="mim-anchor"></a>
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Zander, N. F., Meyer, H. E., Hoffmann-Posorske, E., Crabb, J. W., Heilmeyer, L. M. G., Jr., Kilimann, M. W.
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<strong>cDNA cloning and complete primary structure of skeletal muscle phosphorylase kinase (alpha subunit).</strong>
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Proc. Nat. Acad. Sci. 85: 2929-2933, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3362857/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3362857</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3362857" 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.85.9.2929" target="_blank">Full Text</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 : 5/27/2015
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 9/24/2009<br>Victor A. McKusick - updated : 12/2/1997<br>Victor A. McKusick - updated : 8/15/1997
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 9/4/1989
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mcolton : 08/03/2015
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alopez : 5/27/2015<br>mcolton : 4/29/2014<br>carol : 10/1/2009<br>ckniffin : 9/24/2009<br>carol : 2/14/2000<br>terry : 7/24/1998<br>mark : 12/9/1997<br>terry : 12/2/1997<br>jenny : 8/19/1997<br>terry : 8/15/1997<br>mark : 12/2/1996<br>terry : 11/7/1996<br>supermim : 3/16/1992<br>carol : 1/8/1991<br>supermim : 3/20/1990<br>carol : 12/7/1989<br>ddp : 10/27/1989<br>carol : 9/4/1989
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<strong>*</strong> 172490
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<h3>
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PHOSPHORYLASE KINASE, BETA SUBUNIT; PHKB
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<strong><em>HGNC Approved Gene Symbol: PHKB</em></strong>
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<strong>SNOMEDCT:</strong> 860860004;
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<strong>
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<em>
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Cytogenetic location: 16q12.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 16:47,461,299-47,701,523 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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16q12.1
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</span>
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</td>
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<td>
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<span class="mim-font">
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Phosphorylase kinase deficiency of liver and muscle, autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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261750
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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|
3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The PHKB gene encodes the beta subunit of phosphorylase kinase (PHK; EC 2.7.11.19). Phosphorylase kinase is a hexadecameric enzyme comprising 4 copies each of 4 unique subunits encoded by 4 different genes: alpha (PHKA1 (311870) and PHKA2 (300798), the skeletal muscle and hepatic isoforms, respectively); beta (PHKB); gamma (PHKG1 (172470) and PHKG2 (172471), the skeletal muscle and hepatic isoforms, respectively); and delta. The delta subunit can be encoded by 3 different genes (CALM1, 114180, CALM2, 114182, or CALM3, 114183). The beta subunit is the same in both the muscle and hepatic isoforms. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit, which encodes calmodulin, mediates the dependence of the enzyme on calcium concentration (Beauchamp et al., 2007). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Kilimann et al. (1988) and Zander et al. (1988) cloned DNA sequences encoding the alpha and beta PHK subunits from a rabbit muscle cDNA library. The deduced alpha and beta polypeptides are 1,237 and 1,092 amino acids long, respectively, and contain extensive regions of sequence homology. </p><p>Wullrich-Schmoll and Kilimann (1996) cloned the human PHKB gene and found that the deduced protein shares 95% amino acid sequence identity with the rabbit protein. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Wullrich-Schmoll and Kilimann (1996) determined that the PHKB gene contains 33 exons and spans at least 140 kb. Exons 26 and 27 are 2 homologous, mutually exclusively spliced exons in the middle of the gene; exon 2 is a facultatively utilized cassette exon encoding an alternative N terminus of the beta-subunit. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By Southern blot analysis of rodent-human somatic cell hybrids and by in situ hybridization, Francke et al. (1989) mapped the human PHKB gene to chromosome 16q12-q13. </p><p>Wullrich-Schmoll and Kilimann (1996) confirmed location of the PHKB gene to chromosome 16 by screening of a chromosome 16-specific genomic library. Two processed pseudogenes were identified. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 1 female and 4 male patients with glycogen storage disease IXb (GSD9B; 261750) and PHK deficiency in both liver and muscle, Burwinkel et al. (1997) identified biallelic mutations in the PHKB gene. There were 5 different nonsense mutations (see, e.g., 172490.0002), a 1-bp insertion (172490.0001), a splice site mutation, and a large deletion involving the loss of exon 8. Although the mutations disrupted translation severely and occurred in constitutively expressed sequences of the only known beta-subunit gene of phosphorylase kinase, they were associated with a surprisingly mild clinical phenotype, affecting virtually only the liver, and with a relatively high residual enzyme activity of approximately 10%. Inheritance was autosomal recessive. </p><p>Roscher et al. (2014) reported 2 novel mutations in the PHKB gene resulting in GSD IXb. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>ALLELIC VARIANTS</strong>
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</span>
|
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<strong>6 Selected Examples):</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<p />
|
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</div>
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<div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0001 GLYCOGEN STORAGE DISEASE IXb</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
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|
|
PHKB, 1-BP INS
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<br />
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|
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ClinVar: RCV000014587
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|
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</span>
|
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</div>
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|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with glycogen storage disease IXb (GSD9B; 261750), Burwinkel et al. (1997) identified compound heterozygosity for 2 mutations in the PHKB gene. On 1 allele, a stretch of 7 A residues in exon 14 was extended by an additional A, resulting in a frameshift in codon 421 and translation termination at the following triplet; on the other allele, a C-to-T transition in exon 21 resulted in a gln656-to-ter (Q656X; 172490.0002) substitution. Studies in the parents indicated that the frameshift mutation had been inherited from the father and the nonsense mutation from the mother. The patient was the only child of unrelated, healthy German parents and presented at the age of 22 months because of distended abdomen due to hepatomegaly. At the age of 4 years, the child had a height at the tenth percentile and weight at the fiftieth percentile, hepatomegaly, and a tendency to develop hypoglycemic symptoms after several hours of fasting or physical activity. There were no clinical indications of muscle involvement. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
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|
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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<div>
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|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 GLYCOGEN STORAGE DISEASE IXb</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
PHKB, GLN656TER
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|
|
<br />
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|
|
SNP: rs34667348,
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|
|
gnomAD: rs34667348,
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|
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|
|
ClinVar: RCV000014588, RCV001171912
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|
|
</span>
|
|
</div>
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the gln656-to-ter (Q656X) mutation in the PHKB gene that was found in compound heterozygous state in a patient with glycogen storage disease IXb (GSD9B; 261750) by Burwinkel et al. (1997), see 172490.0001. </p>
|
|
</span>
|
|
</div>
|
|
|
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|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 GLYCOGEN STORAGE DISEASE IXb</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PHKB, TYR418TER
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|
|
|
|
<br />
|
|
|
|
SNP: rs121918021,
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|
|
gnomAD: rs121918021,
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|
|
ClinVar: RCV000014590, RCV003993744, RCV004755735
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Norwegian boy with glycogen storage disease type IXb (GSD9B; 261750), Burwinkel et al. (1997) identified compound heterozygosity for 2 mutations in the PHKB gene: a tyr418-to-ter (Y418X) substitution, and a double mutation, glu975-to-ter (E975X) and tyr974-to-his (Y974H) (172490.0004). The patient and his affected sister were children of unaffected, unrelated parents. They came to medical attention as infants because of hepatomegaly; glucagon response was normal in both (Lederer et al., 1975). Residual phosphorylase kinase activities were 18% of normal in red cell hemolysis of both, 5% in liver of the sister, and 0 to 13% (depending on pH) in muscle of the male. At the age of approximately 25, both patients were fully capable of everyday physical activities, but tended to develop hypoglycemic symptoms upon activity or fasting that were ameliorated by carbohydrate intake. Hepatomegaly had receded; clinical muscle symptoms had never been noted. RT-PCR analysis of RNA from both parents did not yield significant sequence signals for any of the 3 mutations in these sibs. As translation-terminating mutations often result in reduced abundance of the mRNA, Burwinkel et al. (1997) suspected that this might also be the case for both mutant alleles in this family, so that they would be detectable together in the patient but missed against the background of the higher levels of mRNA from the normal alleles in the parents. In genomic DNA they indeed could identify the Y418X mutation in the father and the double mutation in the mother. </p>
|
|
</span>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 GLYCOGEN STORAGE DISEASE IXb</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PHKB, TYR974HIS AND GLU975TER
|
|
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|
|
|
<br />
|
|
|
|
SNP: rs111734407, rs199948078,
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|
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|
|
|
gnomAD: rs111734407, rs199948078,
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|
|
|
ClinVar: RCV000014591, RCV005055785, RCV005055786
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the tyr974-to-his (Y974H) and glu975-to-ter (E975X) double mutation in the PHKB gene that was found in compound heterozygous state in a patient with glycogen storage disease type IXb (GSD9B; 261750) by Burwinkel et al. (1997), see 172490.0003. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 GLYCOGEN STORAGE DISEASE IXb</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
|
|
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|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PHKB, ALA117PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121918022,
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|
|
|
|
|
gnomAD: rs121918022,
|
|
|
|
|
|
ClinVar: RCV000014592, RCV003231104, RCV004586008
|
|
|
|
|
|
</span>
|
|
</div>
|
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|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with glycogen storage disease type IXb (GSD9B; 261750), Burwinkel et al. (1997) found compound heterozygosity for 2 mutations in the PHKB gene: a splice site mutation, IVS4AS-2 A-to-G (172490.0006), causing a reading frame-disrupting deletion of exon 5 in the mRNA, and an ala117-to-pro (A117P) missense mutation, also in exon 5. They stated that this was the first missense mutation identified in PHKB; 9 translation-terminating mutations had been described to that time. The patient was a 22-month-old child of North African-Jewish heritage with hepatomegaly and slightly disturbed liver function tests. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
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|
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 GLYCOGEN STORAGE DISEASE IXb</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PHKB, IVS4AS, A-G, -2
|
|
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|
|
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<br />
|
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|
|
SNP: rs797044442,
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|
|
|
gnomAD: rs797044442,
|
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|
|
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ClinVar: RCV000014589, RCV003398507
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the splice site mutation in the PHKB gene (IVS4AS-2 A-to-G) that was found in compound heterozygous state in a patient with glycogen storage disease type IXb (GSD9B; 261750) by Burwinkel et al. (1997), see 172490.0005. </p>
|
|
</span>
|
|
</div>
|
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|
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<div>
|
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<br />
|
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</div>
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Bashan et al. (1981); Lederer et al. (1975)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bashan, N., Iancu, T. C., Lerner, A., Fraser, D., Potashnik, R., Moses, S. W.
|
|
<strong>Glycogenosis due to liver and muscle phosphorylase kinase deficiency.</strong>
|
|
Pediat. Res. 15: 299-303, 1981.
|
|
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|
|
[PubMed: 6938920]
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|
|
[Full Text: https://doi.org/10.1203/00006450-198104000-00002]
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</p>
|
|
</li>
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Beauchamp, N. J., Dalton, A., Ramaswami, U., Niinikoski, H., Mention, K., Kenny, P., Kolho, K.-L., Raiman, J., Walter, J., Treacy, E., Tanner, S., Sharrard, M.
|
|
<strong>Glycogen storage disease type IX: high variability in clinical phenotype.</strong>
|
|
Molec. Genet. Metab. 92: 88-99, 2007.
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|
|
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|
|
[PubMed: 17689125]
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|
|
[Full Text: https://doi.org/10.1016/j.ymgme.2007.06.007]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Burwinkel, B., Maichele, A. J., Aagenaes, O., Bakker, H. D., Lerner, A., Shin, Y. S., Strachan, J. A., Kilimann, M. W.
|
|
<strong>Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB).</strong>
|
|
Hum. Molec. Genet. 6: 1109-1115, 1997.
|
|
|
|
|
|
[PubMed: 9215682]
|
|
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|
|
[Full Text: https://doi.org/10.1093/hmg/6.7.1109]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Burwinkel, B., Moses, S. W., Kilimann, M. W.
|
|
<strong>Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the beta subunit gene (PHKB).</strong>
|
|
Hum. Genet. 101: 170-174, 1997.
|
|
|
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|
|
[PubMed: 9402963]
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[Full Text: https://doi.org/10.1007/s004390050608]
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Francke, U., Darras, B. T., Zander, N. F., Kilimann, M. W.
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<strong>Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13.</strong>
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Am. J. Hum. Genet. 45: 276-282, 1989.
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[PubMed: 2757032]
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Kilimann, M. W., Zander, N. F., Kuhn, C. C., Crabb, J. W., Meyer, H. E., Heilmeyer, L. M. G., Jr.
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<strong>The alpha and beta subunits of phosphorylase kinase are homologous: cDNA cloning and primary structure of the beta subunit.</strong>
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Proc. Nat. Acad. Sci. 85: 9381-9385, 1988.
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[PubMed: 3200826]
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[Full Text: https://doi.org/10.1073/pnas.85.24.9381]
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Lederer, B., Van Hoof, F., Van den Berghe, G., Hers, H. G.
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<strong>Glycogen phosphorylase and its converter enzymes in haemolysates of normal human subjects and of patients with type VI glycogen storage disease: a study of phosphorylase kinase deficiency.</strong>
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Biochem. J. 147: 23-35, 1975.
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[PubMed: 168880]
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[Full Text: https://doi.org/10.1042/bj1470023]
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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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<p class="mim-text-font">
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Wullrich-Schmoll, A., Kilimann, M. W.
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<strong>Structure of the human gene encoding the phosphorylase kinase beta subunit (PHKB).</strong>
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Europ. J. Biochem. 238: 374-380, 1996.
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[PubMed: 8681948]
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[Full Text: https://doi.org/10.1111/j.1432-1033.1996.0374z.x]
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Zander, N. F., Meyer, H. E., Hoffmann-Posorske, E., Crabb, J. W., Heilmeyer, L. M. G., Jr., Kilimann, M. W.
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<strong>cDNA cloning and complete primary structure of skeletal muscle phosphorylase kinase (alpha subunit).</strong>
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Proc. Nat. Acad. Sci. 85: 2929-2933, 1988.
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[PubMed: 3362857]
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[Full Text: https://doi.org/10.1073/pnas.85.9.2929]
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Ada Hamosh - updated : 5/27/2015<br>Cassandra L. Kniffin - updated : 9/24/2009<br>Victor A. McKusick - updated : 12/2/1997<br>Victor A. McKusick - updated : 8/15/1997
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Victor A. McKusick : 9/4/1989
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