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MGP003882

UniProt Annotations

Entry Information
Gene Nameglyoxylate reductase/hydroxypyruvate reductase
Protein EntryGRHPR_HUMAN
UniProt IDQ9UBQ7
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UBQ7-1; Sequence=Displayed; Name=2; IsoId=Q9UBQ7-2; Sequence=VSP_057016, VSP_057017, VSP_057018; Note=No experimental confirmation available.;
Catalytic ActivityD-glycerate + NAD(P)(+) = hydroxypyruvate + NAD(P)H.
Catalytic ActivityGlycolate + NADP(+) = glyoxylate + NADPH.
DiseaseHyperoxaluria primary 2 (HP2) [MIM:260000]: A disorder characterized by elevated urinary excretion of oxalate and L- glycerate, progressive tissue accumulation of insoluble calcium oxalate, nephrolithiasis, nephrocalcinosis, and end-stage renal disease. {ECO:0000269|PubMed:10484776}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionEnzyme with hydroxy-pyruvate reductase, glyoxylate reductase and D-glycerate dehydrogenase enzymatic activities. Reduces hydroxypyruvate to D-glycerate, glyoxylate to glycolate oxidizes D-glycerate to hydroxypyruvate.
Sequence CautionSequence=AAD54066.1; Type=Frameshift; Positions=109, 137; Evidence={ECO:0000305}; Sequence=AAG39286.1; Type=Frameshift; Positions=237; Evidence={ECO:0000305};
SimilarityBelongs to the D-isomer specific 2-hydroxyacid dehydrogenase family. {ECO:0000305}.
SubunitHomodimer. {ECO:0000269|PubMed:10524214, ECO:0000269|PubMed:16756993}.
Tissue SpecificityUbiquitous. Most abundantly expressed in the liver. {ECO:0000269|PubMed:10679197}.
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