PKLR

Also known as PK1, PKL, PKR, PKRL, RPK, pyruvate kinase, liver and RBC, pyruvate kinase L/R

protein-coding gene in the species Homo sapiens

Gene data

PKLR

Name: pyruvate kinase L/R
Type: protein-coding
Aliases: CNSHA2, PK1, PKL, PKRL, RPK

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].

via MyGene.info