基因名称(Gene Name)
PHKA1/PHKA2
蛋白名称
Phosphorylase b kinase regulatory subunit alpha skeletal muscle isoform/Phosphorylase b kinase regulatory subunit alpha liver isoform
免疫原
The antiserum was produced against synthesized peptide derived from human KPB1/2. AA range:31-80
特异性
PHKA1/2 Polyclonal Antibody detects endogenous levels of PHKA1/2 protein.
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
来源
Polyclonal, Rabbit,IgG
稀释比例
WB 1:500-2000;IHC-p 1:50-300; ELISA 2000-20000
纯化工艺
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
其他名称
PHKA1; PHKA; Phosphorylase b kinase regulatory subunit alpha; skeletal muscle isoform; Phosphorylase kinase alpha M subunit; PHKA2; PHKLA; PYK; Phosphorylase b kinase regulatory subunit alpha, liver isoform; Phosphorylase kinase alpha L sub
背景
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 varian
功能
disease:Defects in PHKA1 are the cause of glycogen storage disease type 9D (GSD9D) [MIM:300559]; also known as X-linked muscle glycogenosis. GSD9D is a metabolic disorder characterized by slowly progressive, predominantly distal muscle weakness and atrophy. Clinical features include exercise intolerance with early fatiguability, pain, cramps and occasionally myoglobinuria.,enzyme regulation:By phosphorylation of various serine residues. Allosteric regulation by calcium.,function:Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin.,pathway:Glycan biosynthesis; glycogen metabolism.,similarity:Belongs to the phosphorylase b kinase regulatory chain family.,subunit:Polymer of 16 chains, four each of alpha, beta, gamma, and delta. Alpha and beta are regulatory chains, gamma is the catalytic chain, and d
