PKLR Proteins

Protein Information

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.

Synonyms

isozymes R/L; L-PK; Pk1; Pk-1; PKL; Pklg; PKLR; PKR; PKRL; Pyruvate kinase 1; pyruvate kinase isozyme R/L; Pyruvate kinase isozymes L/R; pyruvate kinase isozymes R/L; pyruvate kinase liver and red blood cell; pyruvate kinase PKLR; pyruvate kinase type L; pyruvate kinase, liver and blood cell; pyruvate kinase, liver and RBC; pyruvate kinase, liver and red blood cell; red cell/liver pyruvate kinase; RPK; R-PK; R-type/L-type pyruvate kinase