PYGM Proteins

Protein Information

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.

Synonyms

AI115133; glycogen muscle; Glycogen phosphorylase, muscle form; GPMM; muscle (McArdle syndrome); muscle glycogen phosphorylase; Muscpho; Myophosphorylase; PG; Phosphorylase glycogen; phosphorylase, glycogen, muscle; Phosphorylase, glycogen; muscle (McArdle syndrome); Pygm