PHKA1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PHKA1 wild-type allele is located in the vicinity of Xq13.1 and is approximately 136 kb in length. This allele, which encodes phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform protein, is involved in the modulation of glycogenolysis. Mutations in the gene are associated with muscle glycogenosis (glycogen storage disease 9d; X-linked muscle phosphorylase kinase deficiency).

**Synonyms:** - PHKA - Phosphorylase Kinase Alpha-Subunit Gene - Phosphorylase Kinase Regulatory Subunit Alpha 1 wt Allele - Phosphorylase Kinase, Alpha 1 (Muscle) Gene - Phosphorylase Kinase, Alpha 1 (Muscle), Muscle Glycogenosis Gene - Phosphorylase Kinase, Muscle, Alpha-1 Subunit Gene