GRHPR Human

The GRHPR gene is located on chromosome 9 at the position 9p13.2 . It encodes a protein consisting of 328 amino acids with a molecular mass of approximately 35.5 kDa . The enzyme exhibits multiple enzymatic activities, including hydroxypyruvate reductase, glyoxylate reductase, and D-glycerate dehydrogenase activities .

GRHPR is involved in the conversion of glyoxylate to glycolate and hydroxypyruvate to D-glycerate . These reactions are essential for preventing the accumulation of glyoxylate, which can be harmful if it builds up in the body. The enzyme’s activity helps in maintaining metabolic balance and preventing the formation of kidney and bladder stones .

Mutations in the GRHPR gene can lead to a condition known as Primary Hyperoxaluria Type 2 (PH2) . This genetic disorder is characterized by the overproduction of oxalate, leading to the formation of calcium oxalate stones in the kidneys and bladder. The excess oxalate can also deposit in other tissues, causing systemic oxalosis . Individuals with PH2 often develop kidney disease early in life due to the continuous formation of these stones.

The GRHPR enzyme is widely expressed in various tissues, including the liver, kidneys, and adrenal glands . It is primarily localized in the cytoplasm and peroxisomal matrix of cells . The enzyme’s widespread expression underscores its importance in general metabolic processes and cellular homeostasis.

Research into GRHPR has provided insights into its structure and function, paving the way for potential therapeutic interventions for conditions like PH2 . Understanding the enzyme’s role in metabolism can help in developing targeted treatments that can mitigate the effects of its deficiency or dysfunction.