Gene Review:
Phkg1 - phosphorylase kinase, gamma 1
Rattus norvegicus
Synonyms:
PHKIN01, Phkg, Phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform, Phosphorylase kinase subunit gamma-1, Serine/threonine-protein kinase PHKG1
- Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans. Maichele, A.J., Burwinkel, B., Maire, I., Søvik, O., Kilimann, M.W. Nat. Genet. (1996)









