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Positive Control: HeLa or MCF-7 cells. Human brain testis or smooth muscle.
Cellular Location: Nucleus.
Phosphorylase kinase is a hexadecameric enzyme that is comprised of four copies of four subunits that are encoded by four separate genes: PHKA, PHKB, PHKG, and PH kDa. This serine/threonine specific kinase converts glycogen phosphorylase b to glycogen phosphorylase a, resulting in the release of glucose-1-phophate from glycogen. PHKB (Phosphorylase b kinase regulatory subunit beta) is a 1093 amino acid subunit of phosphorylase kinase that, along with PHKA, has regulatory functions controlled by phosphorylation. Defects in the gene encoding PHKB are the cause of glycogen storage disease type 9B, which is also known as phosphorylase kinase deficiency of liver and muscle. This disease is characterized by a mild phenotype of hepatomegaly with only slightly elevated transaminase and plasma lipids, no clinical muscle involvement, and generally is correlated with a gradual improvement with increasing age. There are four isoforms of PHKB that are produced as a result of alternative splicing events.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: D6S113E; DADB-17J1.3; DKFZp686D20235; DKFZp686N0336; FLJ31942; FLJ36550; FLJ43813; FSH; FSRG1; KIAA9001; MGC129615; MGC40413; NAT; Polycomb group RING finger protein 3; ring finger protein 3; RING finger protein 3A; RING3
基因别名: DONG1; PCGF3; RNF3; RNF3A
UniProt ID: (Human) Q3KNV8
Entrez Gene ID: (Human) 10336