Gene GRHPR
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Also known as
glyoxylate reductase/hydroxypyruvate reductase, GLXR, PH2Overview
GRHPR (Glyoxylate Reductase/Hydroxypyruvate Reductase) encodes an enzyme with dual activities that plays a critical role in glyoxylate metabolism. The enzyme reduces glyoxylate to glycolate and hydroxypyruvate to D-glycerate, helping to prevent the accumulation of oxalate. GRHPR is primarily expressed in the liver and helps maintain normal oxalate levels in the body.Mutations in GRHPR cause primary hyperoxaluria type 2 (PH2), an autosomal recessive disorder characterized by excessive oxalate production and recurrent kidney stones. Unlike PH1, PH2 is generally milder, though it can still lead to nephrocalcinosis and progressive kidney damage. Carrier status for GRHPR mutations may be relevant for family planning in affected families.
Understanding your GRHPR genetic status provides insights into oxalate metabolism and kidney stone risk. This information is particularly valuable for individuals with a history of calcium oxalate kidney stones or those with family history of primary hyperoxaluria.