Aliases for PHKA1 Gene
External Ids for PHKA1 Gene
Previous HGNC Symbols for PHKA1 Gene
Previous GeneCards Identifiers for PHKA1 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, and the skeletal muscle isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are 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 9D, also known as X-linked muscle glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. A pseudogene has been found on chromosome 1.[provided by RefSeq, Feb 2010]
GeneCards Summary for PHKA1 Gene
PHKA1 (Phosphorylase Kinase Regulatory Subunit Alpha 1) is a Protein Coding gene. Diseases associated with PHKA1 include Muscle Glycogenosis and Phka1-Related Phosphorylase Kinase Deficiency. Among its related pathways are Calcium signaling pathway and Metabolism. GO annotations related to this gene include calmodulin binding and phosphorylase kinase activity. An important paralog of this gene is PHKA2.
UniProtKB/Swiss-Prot for PHKA1 Gene
Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin.