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.
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Protein Aliases: isozymes R/L; L-PK; Pyruvate kinase 1; pyruvate kinase isozyme R/L; Pyruvate kinase isozymes L/R; pyruvate kinase isozymes R/L; Pyruvate kinase PKLR; pyruvate kinase type L; pyruvate kinase, liver and blood cell; pyruvate kinase, liver and red blood cell; R-type/L-type pyruvate kinase; Red cell/liver pyruvate kinase
Gene Aliases: Pk-1; PK1; PKL; Pklg; PKLR; PKR; PKRL; R-PK; RPK
Molecular Function: kinase