Pyruvate kinase PKLR is an enzyme that in humans is encoded by the PKLR gene. The protein encoded by this gene is a pyruvate kinase that catalyzes the production of pyruvate and ATP from phosphoenolpyruvate. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Alternatively spliced transcript variants encoding distinct isoforms have been described.
As a drug target Etavopivat is an allosteric activator of the erythrocyte PKLR which is currently in phase 3 clinical trials for sickle cell disease and thalassemia.
Interactive pathway map Click on genes, proteins and metabolites below to link to respective articles.
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