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]
Function:
Plays a key role in glycolysis.
DISEASE:
Defects in PKLR are the cause of pyruvate kinase hyperactivity (PKHYP) [MIM:10580]; also known as high red cell ATP syndrome. This autosomal dominant phenotype is characterized by increase of red blood cell ATP.
Defects in PKLR are the cause of pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]. A frequent cause of hereditary non-spherocytic hemolytic anemia. Clinically, pyruvate kinase-deficient patients suffer from a highly variable degree of chronic hemolysis, ranging from severe neonatal jaundice and fatal anemia at birth, severe transfusion-dependent chronic hemolysis, moderate hemolysis with exacerbation during infection, to a fully compensated hemolysis without apparent anemia.
Similarity:
Belongs to the pyruvate kinase family.
SWISS:
P30613
Gene ID:
5313
Database links:
Entrez Gene: 5313 Human
Entrez Gene: 18770 Mouse
Omim: 609712 Human
SwissProt: P30613 Human
SwissProt: P53657 Mouse
Unigene: 95990 Human
Unigene: 38336 Mouse
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