| 简介 | 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]
Diseases associated with PKLR include Pyruvate Kinase Deficiency Of Red Cells and Adenosine Triphosphate, Elevated, Of Erythrocytes. Among its related pathways are glycolysis (BioCyc) and Infectious disease. Gene Ontology (GO) annotations related to this gene include magnesium ion binding and pyruvate kinase activity. An important paralog of this gene is PKM.
Pyruvate kinase that catalyzes the conversion of phosphoenolpyruvate to pyruvate with the synthesis of ATP, and which plays a key role in glycolysis.
Allosterically activated by fructose 1,6-bisphosphate.
pyruvate kinase,homotetramer of 50.60kDa subunit,with two forms,one liver specific,the other erythrocyte specific,transcribed from a distinct promoter,glycolysis,energy pathway,generating ATP from ADP
cytosol 5
Quaternary structure:
Homotetramer.
Miscellaneous:
There are 4 isozymes of pyruvate kinase in mammals: L, R, M1 and M2.
L type is major isozyme in the liver, R is found in red cells, M1 is the main form in muscle, heart and brain, and M2 is found in early fetal tissues. |
|---|