pyruvate kinase, liver and RBC
Symbol
PKLR
(may also be known as: None)
Organism
Human
Description
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]
Orthologs
Symbol | Species | |
---|---|---|
pyk-1 | Caenorhabditis elegans | |
PyK | Drosophila melanogaster | |
Pklr | Mus musculus | |
Pklr | Rattus norvegicus | |
PYK2 | Saccharomyces cerevisiae | |
pyk1 | Schizosaccharomyces pombe |
Links to external resources
Changes associated with this gene
GO Terms
GO ID | GO Term | GO Category | |
---|---|---|---|
GO:0001666 | response to hypoxia | biological_process | |
GO:0005975 | carbohydrate metabolic process | biological_process | |
GO:0006006 | glucose metabolic process | biological_process | |
GO:0006096 | glycolysis | biological_process | |
GO:0006112 | energy reserve metabolic process | biological_process | |
GO:0006754 | ATP biosynthetic process | biological_process | |
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