PHKA2
phosphorylase kinase, alpha 2 (liver)
同義詞:
GSD9A, PHK, PYK, PYKL, XLG, XLG2
物種:
Human PHKA2 (5256), Mouse Phka2 (110094), Rat Phka2 (678739), chicken PHKA2 (418612), Horse PHKA2 (100051530), domestic cat PHKA2 (101100185), dog PHKA2 (480857), domestic guinea pig Phka2 (100719858), naked mole-rat Phka2 (101713572), Domestic Rabbit PHKA2 (100190898) ...更多
UniProtKB ID:
基因 ID:
- Human(5256) Summary: 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]
- Mouse(110094) phosphorylase kinase alpha 2
- Rat(678739) phosphorylase kinase, alpha 2
- chicken(418612) phosphorylase kinase, alpha 2 (liver)
- Horse(100051530) phosphorylase kinase, alpha 2 (liver)
- domestic cat(101100185) phosphorylase kinase, alpha 2 (liver)
- dog(480857) phosphorylase kinase, alpha 2 (liver)
- domestic guinea pig(100719858) phosphorylase kinase, alpha 2 (liver)
- naked mole-rat(101713572) phosphorylase kinase, alpha 2 (liver)
- Domestic Rabbit(100190898) phosphorylase kinase, alpha 2 (liver)
- cow(515732) phosphorylase kinase, alpha 2 (liver)
- sheep(101108807) phosphorylase kinase, alpha 2 (liver)
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