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

SymbolSpecies
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 IDGO TermGO 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
Show more GO terms