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Rabbit Anti-GRHPR/FITC Conjugated antibody
background:
This gene encodes an enzyme with hydroxypyruvate reductase, glyoxylate reductase, and D-glycerate dehydrogenase enzymatic activities. The enzyme has widespread tissue expression and has a role in metabolism. Type II hyperoxaluria is caused by mutations in this gene. [provided by RefSeq, Jul 2008]
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.
Tissue Specificity:
Ubiquitous. Most abundantly expressed in the liver.
DISEASE:
Defects in GRHPR are the cause of hyperoxaluria primary type 2 (HP2) [MIM:260000]; also known as primary hyperoxaluria type II (PH2). HP2 is a disorder where the main clinical manifestation is calcium oxalate nephrolithiasis though chronic as well as terminal renal insufficiency has been described. It is characterized by an elevated urinary excretion of oxalate and L-glycerate.
Similarity:
Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family.
Database links:
Entrez Gene: 9380 Human
Omim: 604296 Human
SwissProt: Q9UBQ7 Human
Unigene: 155742 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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