Aliases for PKLR Gene
External Ids for PKLR Gene
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]
GeneCards Summary for PKLR Gene
PKLR (Pyruvate Kinase, Liver And RBC) is a Protein Coding gene. Diseases associated with PKLR include glucosephosphate dehydrogenase deficiency and pyruvate kinase deficiency. Among its related pathways are L1CAM interactions and Regulation of beta-cell development. GO annotations related to this gene include magnesium ion binding and pyruvate kinase activity. An important paralog of this gene is PKM.
UniProtKB/Swiss-Prot for PKLR Gene
Plays a key role in glycolysis.