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Official Full Name
pyruvate kinase, liver and RBC
Background
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
PKLR; pyruvate kinase, liver and RBC; pyruvate kinase isozymes R/L; pyruvate kinase 1; pyruvate kinase type L; pyruvate kinase isozyme R/L; R-type/L-type pyruvate kinase; red cell/liver pyruvate kinase; pyruvate kinase, liver and blood cell; PK1; PKL; PKR; RPK; PKRL; PK1, PKL, PKR, RPK, PKRL; wu:fd15e01; wu:fi37e08

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