{"product_id":"yp-ab-11540-100ul","title":"KPB2 rabbit pAb","description":"\u003cul\u003e\n\u003cli\u003e\n\u003cb\u003eGene Name:\u003c\/b\u003e PHKA2 PHKLA PYK\u003c\/li\u003e\n\u003cli\u003e\n\u003cb\u003eImmunogen:\u003c\/b\u003e Synthesized peptide derived from human KPB2 AA range: 911-961\u003c\/li\u003e\n\u003cli\u003e\n\u003cb\u003eSpecificity:\u003c\/b\u003e This antibody detects endogenous levels of KPB2 at Human\/Mouse\u003c\/li\u003e\n\u003cli\u003e\n\u003cb\u003eComposition:\u003c\/b\u003e Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.\u003c\/li\u003e\n\u003cli\u003e\n\u003cb\u003eSource:\u003c\/b\u003e Polyclonal, Rabbit,IgG\u003c\/li\u003e\n\u003cli\u003e\n\u003cb\u003eDilution ratio:\u003c\/b\u003e WB 1:500-2000;IHC-p 1:50-300\u003c\/li\u003e\n\u003cli\u003e\n\u003cb\u003ePurification process:\u003c\/b\u003e The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.\u003c\/li\u003e\n\u003cli\u003e\n\u003cb\u003eConcentration:\u003c\/b\u003e 1 mg\/ml\u003c\/li\u003e\n\u003cli\u003e\n\u003cb\u003eStorage:\u003c\/b\u003e -20°C\/1 year\u003c\/li\u003e\n\u003cli\u003e\n\u003cb\u003eBackground:\u003c\/b\u003e 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],\u003c\/li\u003e\n\u003cli\u003e\n\u003cb\u003eFunction:\u003c\/b\u003e 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\u003c\/li\u003e\n\u003cli\u003e\n\u003cb\u003eSpecies:\u003c\/b\u003e Human; Mouse\u003c\/li\u003e\n\u003cli\u003e\n\u003cb\u003eRange:\u003c\/b\u003e WB;IHC\u003c\/li\u003e\n\u003cli\u003e\n\u003cb\u003eProtein:\u003c\/b\u003e KPB2\u003c\/li\u003e\n\u003c\/ul\u003e","brand":"Upingbio","offers":[{"title":"100UL","offer_id":50690825126168,"sku":"YP-Ab-11540-100UL","price":0.0,"currency_code":"USD","in_stock":true}],"url":"https:\/\/danabiosci.com\/products\/yp-ab-11540-100ul","provider":"Dana Bioscience","version":"1.0","type":"link"}