PKLR

Pyruvate kinase that catalyzes the conversion of phosphoenolpyruvate to pyruvate with the synthesis of ATP, and which plays a key role in glycolysis.

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.

Carbohydrate degradation; glycolysis; pyruvate from D-glyceraldehyde 3-phosphate: step 5/5.

Belongs to the pyruvate kinase family.

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

• entrezGene:5313
• omim:609712
• swissprot:P30613

Proteins

Immunology & Infectious Disease

61830Da