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The investigation is concerned with the effects of arginine on protein-protein interactions using phosphorylase kinase (PhK) as an example.
muscle PHKA deficiency may present as an almost asymptomatic condition, despite a mild impairment of muscle
alpha- and beta-subunits possess amino-terminal glucoamylase-like domains and suggests that they might possess a previously overlooked amylase activity
X-linked PHK deficiency causes a mild metabolic myopathy with blunted muscle glycogen breakdown and impaired lactate production during dynamic exercise, which impairs oxidative capacity only marginally
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.
phosphorylase kinase, alpha 1 (muscle)
, phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform
, phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform-like
, phosphorylase kinase alpha M subunit
, Phosphorylase kinase alpha M subunit
, phosphorylase B kinase alpha subunit
, phosphorylase kinase alpha-subunit
, phosphorylase b kinase regulatory subunit alpha skeletal muscle isoform
, phosphorylase kinase, alpha 1 (muscle), muscle glycogenosis