PKLR

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]

pyruvate kinase, liver and RBC

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

ATP biosynthetic processIEA:Ensembl
Cellular response to epinephrine stimulusIEA:Ensembl
Cellular response to insulin stimulusManual Assertion Based On ExperimentIBA:GO_Central
Glycolytic processManual Assertion Based On ExperimentIBA:GO_Central
Pyruvate biosynthetic processIEA:Ensembl
Response to ATPIEA:Ensembl
Response to cAMPIEA:Ensembl
Response to glucoseIEA:Ensembl
Response to heatIEA:Ensembl
Response to hypoxiaIEA:Ensembl
Response to lithium ionIEA:Ensembl
Response to nutrientIEA:Ensembl

cytoplasm
cytosol
extracellular exosome

Pyruvate kinase hyperactivity (PKHYP):
Autosomal dominant phenotype characterized by increase of red blood cell ATP.
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.