基因名称(Gene Name)
PKLR PK1 PKL
蛋白名称
Pyruvate kinase isozymes R/L (EC 2.7.1.40) (Pyruvate kinase 1) (R-type/L-type pyruvate kinase) (Red cell/liver pyruvate kinase)
免疫原
Synthesized peptide derived from part region of human protein at AA range: 510-550
特异性
KPYR Monoclonal Antibody detects endogenous levels of protein.
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
背景
The protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008],
功能
catalytic activity:ATP + pyruvate = ADP + phosphoenolpyruvate.,cofactor:Divalent metal cations.,cofactor:Magnesium.,cofactor:Potassium.,disease:Defects in PKLR are a cause of chronic nonspherocytic hemolytic anemia (CNSHA) [MIM:266200]; also called hereditary nonspherocytic hemolytic anemia (HNSHA).,disease:Defects in PKLR are the cause of pyruvate kinase hyperactivity [MIM:102900]; also known as high red cell ATP syndrome. This autosomal dominant phenotype is characterized by increase of red blood cell ATP.,miscellaneous:There are 4 isozymes of pyruvate kinase in mammals: L, R, M1 and M2. L type is major isozyme in the liver, R is found in red cells, M1 is the main form in muscle, heart and brain, and M2 is found in early fetal tissues.,online information:Pyruvate kinase entry,pathway:Carbohydrate degradation; glycolysis; pyruvate from D-glyceraldehyde 3-phosphate: step 5/5.,similarity:
