Entity Details

Primary name PKLR
Entity type gene
Source Source Link

Details

PrimaryID5313
RefseqGeneNG_011677
SymbolPKLR
Namepyruvate kinase L/R
Chromosome1
Location1q22
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1989-04-05
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsKPYR_HUMAN

GO terms

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GOName
GO:0000287 magnesium ion binding
GO:0001666 response to hypoxia
GO:0004743 pyruvate kinase activity
GO:0005524 ATP binding
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0006096 glycolytic process
GO:0006754 ATP biosynthetic process
GO:0007584 response to nutrient
GO:0009408 response to heat
GO:0009749 response to glucose
GO:0010226 response to lithium ion
GO:0016301 kinase activity
GO:0030955 potassium ion binding
GO:0032869 cellular response to insulin stimulus
GO:0033198 response to ATP
GO:0042866 pyruvate biosynthetic process
GO:0051591 response to cAMP
GO:0061621 canonical glycolysis
GO:0070062 extracellular exosome
GO:0071872 cellular response to epinephrine stimulus

Diseases

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Disease IDSourceNameDescription
266200 OMIMPyruvate kinase deficiency of red cells (PKRD)A frequent cause of hereditary non-spherocytic hemolytic anemia. Clinically, pyruvate kinase-deficient patients suffer from a highly variable degree of chronic hemolysis, ranging from severe neonatal jaundice and fatal anemia at birth, severe transfusion-dependent chronic hemolysis, moderate hemolysis with exacerbation during infection, to a fully compensated hemolysis without apparent anemia. The disease is caused by variants affecting the gene represented in this entry.
102900 OMIMPyruvate kinase hyperactivity (PKHYP)Autosomal dominant phenotype characterized by increase of red blood cell ATP. The disease is caused by variants affecting the gene represented in this entry.