PHKG2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PHKG2 wild-type allele is located in the vicinity of 16p11.2 and is approximately 13 kb in length. This allele, which encodes phosphorylase b kinase gamma catalytic chain, liver/testis isoform protein, is involved in the regulation of glycogenolysis. Mutations in the gene are associated with glycogen storage disease 9c.

**Synonyms:** - GSD9C - Phosphorylase Kinase Catalytic Subunit Gamma 2 wt Allele - Phosphorylase Kinase Gamma Subunit 2 Gene - Phosphorylase Kinase, Gamma 2 (Testis) Gene - Phosphorylase Kinase, Gamma 2 (Testis/Liver) Gene - Serine/Threonine-Protein Kinase PHKG2 Gene