Specifications
Immunogen
Recombinant fragment, corresponding to amino acids 1-216 of Human PHKG2 produced in E. coli (NP_000285).
Applications
Application Notes
WB: 1/1000; IHC-P: 1/150;
Target
Alternative Names
PHKG2; phosphorylase kinase, gamma 2 (testis); phosphorylase b kinase gamma catalytic chain, testis/liver isoform; PSK-C3; PHK-gamma-T; phosphorylase kinase subunit gamma-2; serine/threonine-protein kinase PHKG2; Phosphorylase kinase, gamma 2 (testis/live
Product Background
Antigen Description
Mutations in PHKG2 along with PHKA2 and PHKB, all three different genes of phosphorylase kinase (Phk) subunits, can give rise to glycogen storage disease of the liver. The autosomal-recessive, liver-specific variant of Phk deficiency is caused by mutations in the gene encoding the testis/liver isoform of the catalytic gamma subunit, PHKG2.
Pathway
Calcium signaling pathway, organism-specific biosystem; Calcium signaling pathway, conserved biosystem; Glucose metabolism, organism-specific biosystem; Glycogen Metabolism, organism-specific biosystem; Glycogen breakdown (glycogenolysis), organism-specific biosystem; Insulin signaling pathway, organism-specific biosystem; Insulin signaling pathway, conserved biosystem;
Citations
Publication ()
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