Official Full Name
phosphorylase, glycogen, muscle
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.
PYGM; phosphorylase, glycogen, muscle; phosphorylase, glycogen; muscle; glycogen phosphorylase, muscle form; glycogen storage disease type V; McArdle syndrome; myophosphorylase