PHKA2 Chromosome X

Phosphorylase kinase regulatory subunit alpha 2
123 variants 123 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 hepatic 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 9A, also known as X-linked liver glycogenosis. Alternatively spliced transcript variants have been reported, but the full-length nature of these variants has not been determined.[provided by RefSeq, Feb 2010]
Gene Info
Gene Group
Phosphorylase kinase subunits
Locus Type
gene with protein product
Location
Xp22.13
Ensembl
ENSG00000044446
Associated Conditions (14)
Glycogen storage disease IXa1
Inborn genetic diseases
Glycogen phosphorylase kinase deficiency
PHKA2-related disorder
Glycogen storage disease IXd
Thyroid cancer
nonmedullary
1
Glycogen storage disease IXa2
Nonpapillary renal cell carcinoma
Familial cancer of breast
Aland island eye disease
Glycogen storage disease
Increased hepatic glycogen content
Key Variants
RS1158193880
Conflicting classifications of pathogenicity
Glycogen storage disease IXa1, Glycogen storage disease IXa1
Health Risk
RS1324893950
Conflicting classifications of pathogenicity
Glycogen storage disease IXa1, Glycogen storage disease IXa1
Health Risk
RS145952475
Conflicting classifications of pathogenicity
Glycogen storage disease IXa1, Glycogen storage disease IXa1
Health Risk
RS1555988071
Conflicting classifications of pathogenicity
Glycogen storage disease IXa1, Glycogen storage disease IXa1
Health Risk
RS199904295
Conflicting classifications of pathogenicity
Glycogen storage disease IXa1, Inborn genetic diseases, Glycogen storage disease IXa1
Health Risk
RS201183167
Conflicting classifications of pathogenicity
Glycogen storage disease IXa1, Inborn genetic diseases, Glycogen storage disease IXa1
Health Risk
RS2047830748
Conflicting classifications of pathogenicity
Glycogen storage disease IXa1, Glycogen storage disease IXa1
Health Risk
RS2048199652
Conflicting classifications of pathogenicity
Glycogen storage disease IXa1, Glycogen storage disease IXa1
Health Risk
RS2147799052
Conflicting classifications of pathogenicity
Glycogen storage disease IXa1, Glycogen storage disease IXa1
Health Risk
RS2147958526
Conflicting classifications of pathogenicity
Glycogen storage disease IXa1, Glycogen storage disease IXa1
Health Risk
RS367696431
Conflicting classifications of pathogenicity
Glycogen storage disease IXa1, Glycogen storage disease IXa1
Health Risk
RS368131175
Conflicting classifications of pathogenicity
Glycogen storage disease IXa1, Inborn genetic diseases, Glycogen storage disease IXa1
Health Risk
All Variants (123)
RSID Category Clinical Significance Conditions
RS1158193880 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS1324893950 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS145952475 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS1555988071 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS199904295 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXa1, Inborn genetic diseases, Glycogen storage disease IXa1
RS201183167 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXa1, Inborn genetic diseases, Glycogen storage disease IXa1
RS2047830748 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2048199652 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2147799052 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2147958526 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS367696431 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS368131175 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXa1, Inborn genetic diseases, Glycogen storage disease IXa1
RS368594655 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Glycogen storage disease IXa1, Inborn genetic diseases
RS369443458 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Glycogen storage disease IXa1, Inborn genetic diseases
RS370432175 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746875668 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXa1, Inborn genetic diseases, Glycogen storage disease IXa1
RS750028556 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXa1, Inborn genetic diseases, Glycogen storage disease IXa1
RS750628677 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXa1, Inborn genetic diseases, Glycogen storage disease IXa1
RS751364453 Health Risk Conflicting classifications of pathogenicity Glycogen phosphorylase kinase deficiency, Glycogen storage disease IXa1, Glycogen phosphorylase kinase deficiency
RS756254299 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXa1, Inborn genetic diseases, Glycogen storage disease IXa1
RS757718008 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXa1, Inborn genetic diseases, Glycogen storage disease IXa1
RS768511577 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768524028 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXa1, Inborn genetic diseases, Glycogen storage disease IXa1
RS773766679 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXa1, Inborn genetic diseases, Glycogen storage disease IXa1
RS778051353 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXa1, Inborn genetic diseases, PHKA2-related disorder
RS797044877 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Glycogen storage disease IXa1, Glycogen storage disease IXd
RS797044921 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Glycogen storage disease IXa1, Inborn genetic diseases
RS1064794657 Health Risk Likely pathogenic —
RS137852290 Health Risk Likely pathogenic Glycogen storage disease IXa2, Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS137852294 Health Risk Likely pathogenic Glycogen storage disease IXa2, Glycogen storage disease IXa1, Glycogen storage disease IXa2
RS137852295 Health Risk Likely pathogenic Glycogen storage disease IXa2, Glycogen storage disease IXa1, Glycogen storage disease IXa2
RS1555988479 Health Risk Likely pathogenic Glycogen storage disease IXa1, Thyroid cancer, nonmedullary
RS1555995635 Health Risk Likely pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS1555995689 Health Risk Likely pathogenic —
RS1556002344 Health Risk Likely pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS1556014969 Health Risk Likely pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS1556016365 Health Risk Likely pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS1569310542 Health Risk Likely pathogenic —
RS1601747985 Health Risk Likely pathogenic Glycogen storage disease IXa1, Thyroid cancer, nonmedullary
RS1601748177 Health Risk Likely pathogenic PHKA2-related disorder, PHKA2-related disorder
RS1601776276 Health Risk Likely pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2047467477 Health Risk Likely pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2047514376 Health Risk Likely pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2047516641 Health Risk Likely pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2047834385 Health Risk Likely pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2048391185 Health Risk Likely pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2048628868 Health Risk Likely pathogenic —
RS2048714302 Health Risk Likely pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2147946477 Health Risk Likely pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2147954328 Health Risk Likely pathogenic Glycogen storage disease IXa1, Thyroid cancer, nonmedullary
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