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.
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Protein Aliases: glycogen muscle; Glycogen phosphorylase, muscle form; GPMM; Myophosphorylase; Phosphorylase; PYGM
Gene Aliases: PYGM
UniProt ID: (Human) P11217
Entrez Gene ID: (Human) 5837