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. 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. 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.
European journal of human genetics : EJHG, 11(7), 516-526 (2003-06-26)
Muscle-specific deficiency of phosphorylase kinase (Phk) causes glycogen storage disease, clinically manifesting in exercise intolerance with early fatiguability, pain, cramps and occasionally myoglobinuria. In two patients and in a mouse mutant with muscle Phk deficiency, mutations were previously found in
Muscle glycogenosis caused by phosphorylase kinase (Phk) deficiency may lead to exercise intolerance, weakness and musculatur atrophy. The gene encoding the muscle isoform of the Phk gamma subunit (gamma M) is one of the candidate genes in which mutations responsible
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