Immunogen
Synthesized peptide derived from human KPB2 AA range: 911-961
Specificity
This antibody detects endogenous levels of KPB2 at Human/Mouse
Source
Polyclonal, Rabbit,IgG
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Dilution rate
WB 1:500-2000;IHC-p 1:50-300
Purification process (Immunogen)
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
Background
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 hepatic 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 9A, also known as X-linked liver glycogenosis. Alternatively spliced transcript variants have been reported, but the full-length nature of these variants has not been determined.[provided by RefSeq, Feb 2010],
Function
disease:Defects in PHKA2 are the cause of glycogen storage disease type 9A (GSD9A) [MIM:306000]; also known as X-linked liver glycogenosis (XLG). GSD9A is a metabolic disorder resulting in a mild glycogenosis with clinical symptoms that include hepatomegaly, growth retardation, muscle weakness, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis. Two subtypes are known: type 1 or classic type, and type 2 or variant type. The variant type is characterized mainly by enlarged liver and growth retardation; patients do not show in vitro enzymatic deficiency of phosphorylase kinase. Unlike other glycogenosis diseases, GSD9A is generally a benign condition. Patients improve with age and are often asymptomatic as adults. Accurate diagnosis is therefore also of prognostic interest.,enzyme regula
Gene Name
PHKA2 PHKLA PYK
Fields
>>Calcium signaling pathway;>>Insulin signaling pathway;>>Glucagon signaling pathway
Human protein sequence Database
P46019
Mouse protein sequence database
Q8BWJ3
Rat protein sequence database
Cellular localization
Cell membrane ; Lipid-anchor ; Cytoplasmic side .
Tissue expression
Predominantly expressed in liver and other non-muscle tissues.
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