Aliases for PHKB Gene
External Ids for PHKB Gene
Previous GeneCards Identifiers for PHKB Gene
Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, encoded by this gene, which is a member of the phosphorylase b kinase regulatory subunit family. The gamma subunit also includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9B, also known as phosphorylase kinase deficiency of liver and muscle. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. Two pseudogenes have been found on chromosomes 14 and 20, respectively.[provided by RefSeq, Feb 2010]
GeneCards Summary for PHKB Gene
PHKB (Phosphorylase Kinase Beta Subunit) is a Protein Coding gene. Diseases associated with PHKB include phosphorylase kinase deficiency of liver and muscle, autosomal recessive and glycogen storage disease due to liver and muscle phosphorylase kinase deficiency. Among its related pathways are Metabolism and Glycosaminoglycan metabolism. GO annotations related to this gene include calmodulin binding and phosphorylase kinase activity. An important paralog of this gene is PHKA1.
UniProtKB/Swiss-Prot for PHKB Gene
Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The beta chain acts as a regulatory unit and modulates the activity of the holoenzyme in response to phosphorylation.