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Normal Function
The GRHPR gene provides instructions for making an enzyme called glyoxylate and hydroxypyruvate reductase. This enzyme plays a role in preventing the buildup of a potentially harmful substance called glyoxylate by converting it to a substance called glycolate, which is easily excreted from the body. Additionally, this enzyme can convert a compound called hydroxypyruvate to D-glycerate, which is eventually converted to the simple sugar glucose (by other enzymes) and used for energy.
Health Conditions Related to Genetic Changes
Primary hyperoxaluria
More than 25 mutations in the GRHPR gene have been found to cause primary hyperoxaluria type 2. This condition is caused by the overproduction of a substance called oxalate. Excess amounts of this substance lead to kidney and bladder stones, which begin in childhood and often result in kidney disease by early adulthood. Deposition of oxalate in multiple other tissues throughout the body (systemic oxalosis) can cause additional health problems.
GRHPR gene mutations either disrupt production of the glyoxylate and hydroxypyruvate reductase enzyme or alter its structure. As a result, enzyme activity is absent or severely reduced and the conversion of glyoxylate to glycolate is impaired. Glyoxylate builds up and is converted to a compound called oxalate. The oxalate is filtered through the kidneys and is either excreted in urine as a waste product or combines with calcium to form calcium oxalate, a hard compound that is the main component of kidney and bladder stones. Increased oxalate levels in the blood can lead to systemic oxalosis, particularly affecting bones and the walls of blood vessels in people with primary hyperoxaluria type 2.
More About This Health ConditionOther Names for This Gene
- D-glycerate dehydrogenase
- GLXR
- glyoxylate reductase/hydroxypyruvate reductase
- GRHPR_HUMAN
- PH2
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Cochat P, Rumsby G. Primary hyperoxaluria. N Engl J Med. 2013 Aug 15;369(7):649-58. doi: 10.1056/NEJMra1301564. No abstract available. Erratum In: N Engl J Med. 2013 Nov 28;369(22):2168. Citation on PubMed
- Cregeen DP, Williams EL, Hulton S, Rumsby G. Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2. Hum Mutat. 2003 Dec;22(6):497. doi: 10.1002/humu.9200. Citation on PubMed
- Hoppe B. An update on primary hyperoxaluria. Nat Rev Nephrol. 2012 Jun 12;8(8):467-75. doi: 10.1038/nrneph.2012.113. Citation on PubMed
- Knight J, Holmes RP. Mitochondrial hydroxyproline metabolism: implications for primary hyperoxaluria. Am J Nephrol. 2005 Mar-Apr;25(2):171-5. doi: 10.1159/000085409. Epub 2005 Apr 21. Citation on PubMed or Free article on PubMed Central
- Rumsby G, Hulton SA. Primary Hyperoxaluria Type 2. 2008 Dec 2 [updated 2017 Dec 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from http://www.ncbi.nlm.nih.gov/books/NBK2692/ Citation on PubMed
- Webster KE, Ferree PM, Holmes RP, Cramer SD. Identification of missense, nonsense, and deletion mutations in the GRHPR gene in patients with primary hyperoxaluria type II (PH2). Hum Genet. 2000 Aug;107(2):176-85. doi: 10.1007/s004390000351. Citation on PubMed
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