DISEASES

Disease-gene associations mined from literature

Literature associating PHKG1 and glycogen storage disease IXa

PHKG1 [ENSP00000445440]

Phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform; Catalytic subunit of the phosphorylase b kinase (PHK), which mediates the neural and hormonal regulation of glycogen breakdown (glycogenolysis) by phosphorylating and thereby activating glycogen phosphorylase. In vitro, phosphorylates PYGM, TNNI3, MAPT/TAU, GAP43 and NRGN/RC3 (By similarity).

Synonyms:  PHKG1,  PHKG1p,  hPHKG1,  A0A024RDL4,  C9J2Q6 ...

Linkouts:  STRING  Pharos  UniProt