PYGM

This gene encodes a muscle enzyme involved in glycogenolysis. Highly similar enzymes encoded by different genes are found in liver and brain. Mutations in this gene are associated with McArdle disease (myophosphorylase deficiency), a glycogen storage disease of muscle. Alternative splicing results in multiple transcript variants

Full Name

phosphorylase, glycogen, muscle

Function

Allosteric enzyme that catalyzes the rate-limiting step in glycogen catabolism, the phosphorolytic cleavage of glycogen to produce glucose-1-phosphate, and plays a central role in maintaining cellular and organismal glucose homeostasis.

Biological Process

Biological Process glycogen catabolic processManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process glycogen metabolic processManual Assertion Based On ExperimentTAS:ProtInc

Cellular Location

cytoplasm
cytosol
extracellular exosome

Involvement in disease

Glycogen storage disease 5 (GSD5):
A metabolic disorder resulting in myopathy characterized by exercise intolerance, cramps, muscle weakness and recurrent myoglobinuria.

PTM

Phosphorylation of Ser-15 converts phosphorylase B (unphosphorylated) to phosphorylase A.