Overview:

PHKG1 or phosphorylase kinase gamma 1 is a member of the Ser/Thr protein kinase family that encodes a protein with one protein kinase domain and two calmodulin-binding domains. Phosphorylase kinase is a crucial glycogenolytic regulatory enzyme (1). PHKG1 is the catalytic member of a 16-subunit protein kinase complex that contains equimolar ratios of 4 subunit types known as alpha, beta, gamma and delta (2). Skeletal muscle contains the highest amount of phosphorylase kinase enzymatic activity, although activity is also observed in liver, cardiac muscle, brain, and several other tissues.

Gene Aliases:

PHKG

Genbank Number:

NM_006213

References:

1. Burwinkel, B. et.al: Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases. Europ. J. Hum. Gen. 11: 516-526, 2003.

2. Wehner, M. et.al: Human cDNA encoding the muscle isoform of the phosphorylase kinase gamma subunit (PHKG1).