PKLR
Function
Pyruvate kinase that catalyzes the conversion of phosphoenolpyruvate to pyruvate with the synthesis of ATP, and which plays a key role in glycolysis.
Involvement in disease
Pyruvate kinase hyperactivity
PKHYP
Autosomal dominant phenotype characterized by increase of red blood cell ATP.
None
The disease is caused by variants affecting the gene represented in this entry.
Pyruvate kinase deficiency of red cells
PKRD
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Carbohydrate degradation; glycolysis; pyruvate from D-glyceraldehyde 3-phosphate: step 5/5.
Sequence Similarities
Belongs to the pyruvate kinase family.
Alternative names
PK1, PKL, PKLR, Pyruvate kinase PKLR, Pyruvate kinase 1, Pyruvate kinase isozymes L/R, R-type/L-type pyruvate kinase, Red cell/liver pyruvate kinase