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These cases add to the current knowledge of clinical variability in patients with PHKG2 mutations. Long term studies, involving follow-up of these patients into adulthood, are needed
Patients with PHKG2 mutations have a severe hepatic phenotype within the heterogeneous GSD IX disorder. A defect in PHKG2 should be considered in patients with suspected glycogenosis associated with significant liver fibrosis and cirrhosis.
PHKG2 mutations are associated with Glycogen (zeige GYS1 Proteine) storage disease type IX
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, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. 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 9C, also known as autosomal liver glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.
phosphorylase kinase, gamma 2 (testis)
, phosphorylase b kinase gamma catalytic chain, testis/liver isoform
, phosphorylase b kinase gamma catalytic chain, testis/liver isoform-like
, phosphorylase b kinase gamma catalytic chain, liver/testis isoform
, Phosphorylase kinase, gamma 2 (testis/liver)
, phosphorylase kinase subunit gamma-2
, serine/threonine-protein kinase PHKG2
, phosphorylase kinase subunit gamma 2