PHKA1 Chromosome X

Phosphorylase kinase regulatory subunit alpha 1
58 variants 58 Health Risk

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What This Gene Does
Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the skeletal muscle isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. 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 mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9D, also known as X-linked muscle glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. A pseudogene has been found on chromosome 1.[provided by RefSeq, Feb 2010]
Gene Info
Gene Group
Phosphorylase kinase subunits
Locus Type
gene with protein product
Location
Xq13.1
Ensembl
ENSG00000067177
Associated Conditions (7)
Glycogen storage disease IXd
Inborn genetic diseases
PHKA1-related disorder
Glycogen phosphorylase kinase deficiency
Thyroid cancer
nonmedullary
1
Key Variants
RS1033726905
Conflicting classifications of pathogenicity
Glycogen storage disease IXd, Glycogen storage disease IXd
Health Risk
RS138195744
Conflicting classifications of pathogenicity
Glycogen storage disease IXd, Inborn genetic diseases, Glycogen storage disease IXd
Health Risk
RS138752449
Conflicting classifications of pathogenicity
Glycogen storage disease IXd, Inborn genetic diseases, Glycogen storage disease IXd
Health Risk
RS142501612
Conflicting classifications of pathogenicity
Glycogen storage disease IXd, Inborn genetic diseases, Glycogen storage disease IXd
Health Risk
RS144813238
Conflicting classifications of pathogenicity
Glycogen storage disease IXd, Inborn genetic diseases, Glycogen storage disease IXd
Health Risk
RS1474761630
Conflicting classifications of pathogenicity
Glycogen storage disease IXd, Inborn genetic diseases, Glycogen storage disease IXd
Health Risk
RS151279562
Conflicting classifications of pathogenicity
Glycogen storage disease IXd, PHKA1-related disorder, Glycogen storage disease IXd
Health Risk
RS199608903
Conflicting classifications of pathogenicity
Glycogen storage disease IXd, Inborn genetic diseases, Glycogen storage disease IXd
Health Risk
RS202007590
Conflicting classifications of pathogenicity
Glycogen storage disease IXd, Glycogen storage disease IXd
Health Risk
RS367798015
Conflicting classifications of pathogenicity
Glycogen storage disease IXd, Glycogen storage disease IXd
Health Risk
RS369136290
Conflicting classifications of pathogenicity
Glycogen storage disease IXd, Inborn genetic diseases, Glycogen storage disease IXd
Health Risk
RS369728544
Conflicting classifications of pathogenicity
Glycogen storage disease IXd, Glycogen storage disease IXd
Health Risk
All Variants (58)
RSID Category Clinical Significance Conditions
RS1033726905 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Glycogen storage disease IXd
RS138195744 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Inborn genetic diseases, Glycogen storage disease IXd
RS138752449 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Inborn genetic diseases, Glycogen storage disease IXd
RS142501612 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Inborn genetic diseases, Glycogen storage disease IXd
RS144813238 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Inborn genetic diseases, Glycogen storage disease IXd
RS1474761630 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Inborn genetic diseases, Glycogen storage disease IXd
RS151279562 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, PHKA1-related disorder, Glycogen storage disease IXd
RS199608903 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Inborn genetic diseases, Glycogen storage disease IXd
RS202007590 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Glycogen storage disease IXd
RS367798015 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Glycogen storage disease IXd
RS369136290 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Inborn genetic diseases, Glycogen storage disease IXd
RS369728544 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Glycogen storage disease IXd
RS781803498 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Inborn genetic diseases, Glycogen storage disease IXd
RS781926600 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Inborn genetic diseases, Glycogen storage disease IXd
RS781963831 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Glycogen storage disease IXd
RS782021409 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Inborn genetic diseases, Glycogen storage disease IXd
RS782063260 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Inborn genetic diseases, Glycogen storage disease IXd
RS782102345 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Glycogen storage disease IXd
RS782176924 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, PHKA1-related disorder, Glycogen storage disease IXd
RS782191011 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Glycogen storage disease IXd
RS782285281 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Inborn genetic diseases, Glycogen storage disease IXd
RS782306248 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Glycogen storage disease IXd
RS782360415 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Inborn genetic diseases, Glycogen storage disease IXd
RS782453258 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Inborn genetic diseases, Glycogen storage disease IXd
RS782528091 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Inborn genetic diseases, Glycogen storage disease IXd
RS782679415 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Glycogen storage disease IXd
RS782682520 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Glycogen storage disease IXd
RS782702439 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Glycogen storage disease IXd
RS886068834 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Glycogen storage disease IXd
RS1064794973 Health Risk Likely pathogenic —
RS1197978742 Health Risk Likely pathogenic Glycogen storage disease IXd, Glycogen storage disease IXd
RS1556257317 Health Risk Likely pathogenic Glycogen storage disease IXd, Glycogen phosphorylase kinase deficiency, Glycogen storage disease IXd
RS2052711601 Health Risk Likely pathogenic Glycogen storage disease IXd, Glycogen storage disease IXd
RS2053626907 Health Risk Likely pathogenic Glycogen storage disease IXd, Glycogen storage disease IXd
RS2147747770 Health Risk Likely pathogenic Glycogen storage disease IXd, Glycogen storage disease IXd
RS2147766482 Health Risk Likely pathogenic Glycogen storage disease IXd, Glycogen storage disease IXd
RS2522850255 Health Risk Likely pathogenic Glycogen storage disease IXd, Glycogen storage disease IXd
RS1157788242 Health Risk Pathogenic Glycogen storage disease IXd, Glycogen storage disease IXd
RS1256371424 Health Risk Pathogenic Glycogen storage disease IXd, Glycogen phosphorylase kinase deficiency, Glycogen storage disease IXd
RS137852546 Health Risk Pathogenic Glycogen storage disease IXd, Thyroid cancer, nonmedullary
RS137852547 Health Risk Pathogenic Glycogen storage disease IXd, Glycogen storage disease IXd
RS137852548 Health Risk Pathogenic Glycogen storage disease IXd, Glycogen storage disease IXd
RS1603266754 Health Risk Pathogenic Glycogen storage disease IXd, Glycogen storage disease IXd
RS2052776972 Health Risk Pathogenic Glycogen storage disease IXd, Glycogen storage disease IXd
RS2147779873 Health Risk Pathogenic Glycogen storage disease IXd, Glycogen storage disease IXd
RS2147781328 Health Risk Pathogenic Glycogen storage disease IXd, Glycogen storage disease IXd
RS2522306478 Health Risk Pathogenic Glycogen storage disease IXd, Glycogen storage disease IXd
RS2522421362 Health Risk Pathogenic Glycogen storage disease IXd, Glycogen storage disease IXd
RS2522445049 Health Risk Pathogenic Glycogen storage disease IXd, Glycogen storage disease IXd
RS2522486103 Health Risk Pathogenic —
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