PYGL wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PYGL wild-type allele is located in the vicinity of 14q22.1 and is approximately 87 kb in length. This allele, which encodes glycogen phosphorylase, liver form protein, is involved in glycogen catabolism yielding glucose-1-phosphate. Mutation of the gene is associated with glycogen storage disease 6.

**Synonyms:** - GSD6 - Glycogen Phosphorylase L wt Allele - Glycogen Phosphorylase, Liver Gene - Glycogen Storage Disease Type VI Gene - Hers Disease Gene - Phosphorylase, Glycogen, Liver Gene - Phosphorylase, Glycogen; Liver Gene