RBCC Red Blood Cell Collection

GRHPR_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: GRHPR , GLXR , MSTP035
Protein names and data: GRHPR_HUMAN , Glyoxylate reductase/hydroxypyruvate reductase; 1.1.1.79; 1.1.1.81 Lenght: 328 a.a.
Mass: 35668 Da
fasta formatted sequence
Function: Enzyme 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.
Catalytic activity: Glycolate + NADP(+) = glyoxylate + NADPH. D-glycerate + NAD(P)(+) = hydroxypyruvate + NAD(P)H.
Disease: ( OMIM: 260000 604296 ) Hyperoxaluria 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue specificity: Ubiquitous. Most abundantly expressed in the liver.

Genetic variants

170 - 170 R -> Q (in dbSNP:rs12002324). VAR_032762 12002324

Database cross-references

UniProt: Q9UBQ7
Ensembl: ENST00000318158
MIM: 260000
MIM: 604296
neXtProt: NX_Q9UBQ7
Antibodypedia: Q9UBQ7 (may not find the protein thus also not any antibody)
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