GO curators for mouse genes have assigned the following annotations to the gene product of Pklr. (This text reflects annotations as of Wednesday, January 23, 2013.) Summary from NCBI RefSeq
[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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]Summary text based on GO annotations supported by experimental evidence in mouse
Researchers have inferred from direct assay, that the gene product of Pklr
participates in the following biological processes:
Min-Oo G et al. (2003) Pyruvate kinase deficiency in mice protects against malaria. Nat Genet, 35:357-62. (PubMed:14595440)
Peters J et al. (1981) Polymorphism of kidney pyruvate kinase in the mouse is determined by a gene, Pk-3, on chromosome 9. Biochem Genet, 19:757-69. (PubMed:7295297)
White RA et al. (2004) Chromosomal localization, hematologic characterization, and iron metabolism of the hereditary erythroblastic anemia (hea) mutant mouse. Blood, 104:1511-8. (PubMed:15155459)