PHKB wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PHKB wild-type allele is located in the vicinity of 16q12.1 and is approximately 240 kb in length. This allele, which encodes phosphorylase b kinase regulatory subunit beta protein, plays a role in the regulation of the phosphorylation of glycogen phosphorylase. Mutations in the gene are associated with autosomal recessive phosphorylase kinase deficiency of liver and muscle (glycogen storage disease 9b).

**Synonyms:** - Phosphorylase Kinase Regulatory Subunit Beta wt Allele - Phosphorylase Kinase, Beta Gene - Phosphorylase Kinase, Beta Subunit Gene - Phosphorylase Kinase, Beta-Subunit Gene