Glyoxylate reductase/hydroxypyruvate reductase is an
enzyme
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products ...
that in humans is encoded by the ''GRHPR''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
This gene encodes an
enzyme
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products ...
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
Hyperoxaluria is an excessive urinary excretion of oxalate. Individuals with hyperoxaluria often have calcium oxalate kidney stones. It is sometimes called Bird's disease, after Golding Bird, who first described the condition.
Causes
Hyperoxalur ...
is caused by mutations in this gene.
GRHPR mutation analysis needs to pay attention to primer design, because allele dropout can cause false-positive result.
References
External links
GeneReviews/NCBI/NIH/UW entry on Primary Hyperoxaluria Type 2
Further reading
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