|Other Names||Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform, Phosphorylase kinase alpha M subunit, PHKA1, PHKA|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin.|
|Cellular Location||Cell membrane; Lipid-anchor; Cytoplasmic side|
|Tissue Location||Muscle specific. Isoform 1 is predominant in vastus lateralis muscle. Isoform 2 predominates slightly in heart, and it predominates clearly in the other tissues tested|
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Phosphorylase kinase is a polymer of 16 subunits, foureach of alpha, beta, gamma and delta. The alpha subunit includesthe skeletal muscle and hepatic isoforms, and the skeletal muscleisoform is encoded by this gene. The beta subunit is the same inboth the muscle and hepatic isoforms, and encoded by one gene. Thegamma subunit also includes the skeletal muscle and hepaticisoforms, which are encoded by two different genes. The deltasubunit is a calmodulin and can be encoded by three differentgenes. The gamma subunits contain the active site of the enzyme,whereas the alpha and beta subunits have regulatory functionscontrolled by phosphorylation. The delta subunit mediates thedependence of the enzyme on calcium concentration. Mutations inthis gene cause glycogen storage disease type 9D, also known asX-linked muscle glycogenosis. Alternatively spliced transcriptvariants encoding different isoforms have been identified in thisgene. A pseudogene has been found on chromosome 1.
Echaniz-Laguna, A., et al. Neuromuscul. Disord. 20(2):125-127(2010)Orngreen, M.C., et al. Neurology 70(20):1876-1882(2008)Pallen, M.J. Protein Sci. 12(8):1804-1807(2003)Burwinkel, B., et al. Eur. J. Hum. Genet. 11(7):516-526(2003)Brushia, R.J., et al. Front. Biosci. 4, D618-D641 (1999) :
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