靶标:
PKLR
产品别名:
PK1; PKL; PKRL; RPK; PKLR; pyruvate kinase L/R; pyruvate kinase L/R; pyruvate kinase PKLR; R-type/L-type pyruvate kinase; pyruvate kinase 1; pyruvate kinase isozyme R/L; pyruvate kinase isozymes L/R; pyruvate kinase isozymes R/L; pyruvate kinase type L; pyruvate kinase, liver and RBC; pyruvate kinase, liver and blood cell; red cell/liver pyruvate kinase; 丙酮酸激酶同工酶R/L(PKLR); 丙酮酸激酶肝型;
背景信息:
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],