PHKA2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PHKA2 wild-type allele is located in the vicinity of Xp22.13 and is approximately 92 kb in length. This allele, which encodes phosphorylase b kinase regulatory subunit alpha, liver isoform protein, is involved in the regulation of phosphorylase b kinase-mediated serine phosphorylation in the liver. Mutations in the gene are associated with glycogen storage disease type 9A (X-linked liver glycogenosis).

**Synonyms:** - GSD9A - PHK - PHKLA - PYK - PYKL - Phosphorylase B Kinase, Liver, Alpha-2 Subunit Gene - Phosphorylase Kinase Alpha-2 Subunit Gene - Phosphorylase Kinase Alpha-Subunit Gene - Phosphorylase Kinase Regulatory Subunit Alpha 2 wt Allele - XLG - XLG2