This product is an active protein and may elicit a biological response in vivo, handle with caution.
Pyruvate kinase 1
Pyruvate kinase isozymes R/L
Pyruvate kinase liver and blood cell
Pyruvate kinase liver and RBC
Pyruvate kinase liver and red blood cell
Pyruvate kinase liver type
Pyruvate kinase type L
Pyruvate kinase, red cell type
R type/L type pyruvate kinase
R-type/L-type pyruvate kinase
Red cell/liver pyruvate kinase
Plays a key role in glycolysis.
Carbohydrate degradation; glycolysis; pyruvate from D-glyceraldehyde 3-phosphate: step 5/5.
Involvement in disease
Defects in PKLR are the cause of pyruvate kinase hyperactivity (PKHYP) [MIM:102900]; 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.