PKLR, Official Symbol PKLRprovided by HGNC Official Full Name pyruvate kinase L/Rprovided by HGNC Primary source HGNC:HGNC:9020 See related Ensembl:ENSG00000143627 MIM:609712; AllianceGenome:HGNC:9020 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PK1; PKL; RPK; PKRL Summary 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] Expression Biased expression in liver (RPKM 34.0), kidney (RPKM 20.1) and 3 other tissues See more Orthologs mouse all