PYGM wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PYGM wild-type allele is located in the vicinity of 11q13.1 and is approximately 14 kb in length. This allele, which encodes glycogen phosphorylase, muscle form protein, plays a role in the catabolism of glycogen. Mutations in the gene are associated with glycogen storage disease 5 (McArdle syndrome).

**Synonyms:** - GSD5 - Glycogen Phosphorylase, Muscle Associated wt Allele - Glycogen Phosphorylase, Muscle Gene - Glycogen Storage Disease Type V Gene - McArdle Syndrome Gene - Phosphorylase, Glycogen, Muscle Gene - Phosphorylase, Glycogen; Muscle Gene