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Genetics Home Reference: your guide to understanding genetic conditions
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GRHPR

Reviewed January 2008

What is the official name of the GRHPR gene?

The official name of this gene is “glyoxylate reductase/hydroxypyruvate reductase.”

GRHPR is the gene's official symbol. The GRHPR gene is also known by other names, listed below.

What is the normal function of the GRHPR gene?

The GRHPR gene provides instructions for making an enzyme called glyoxylate reductase/hydroxypyruvate reductase, which is found primarily in the liver, with smaller amounts in the kidneys. This dual-action enzyme plays a role in preventing the buildup of a potentially harmful substance called glyoxylate by converting it to glycolate. Additionally, this enzyme can convert a compound called hydroxypyruvate to D-glycerate, which is eventually converted to glucose (by other enzymes) and used for energy.

How are changes in the GRHPR gene related to health conditions?

primary hyperoxaluria - caused by mutations in the GRHPR gene

Researchers have identified more than a dozen GRHPR mutations that cause type 2 primary hyperoxaluria. These mutations either introduce signals that disrupt production of the glyoxylate reductase/hydroxypyruvate reductase enzyme or alter its structure. As a result, enzyme activity is absent or dramatically reduced. Glyoxylate builds up because of the enzyme shortage, and it is converted to a compound called oxalate instead of glycolate. Oxalate, in turn, combines with calcium to form calcium oxalate, which the body cannot readily eliminate. Deposits of calcium oxalate can lead to the characteristic features of primary hyperoxaluria, which include kidney stones, kidney damage or failure, and injury to other tissues and organs.

Where is the GRHPR gene located?

Cytogenetic Location: 9q12

Molecular Location on chromosome 9: base pairs 37,422,695 to 37,436,992

The GRHPR gene is located on the long (q) arm of chromosome 9 at position 12.

The GRHPR gene is located on the long (q) arm of chromosome 9 at position 12.

More precisely, the GRHPR gene is located from base pair 37,422,695 to base pair 37,436,992 on chromosome 9.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about GRHPR?

You and your healthcare professional may find the following resources about GRHPR helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the GRHPR gene or gene products?

  • GLXR
  • GRHPR_HUMAN
  • PH2

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding GRHPR?

calcium ; compound ; enzyme ; gene ; glucose ; injury ; kidney ; kidney stones

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References

  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/14635115?dopt=Abstract)
  • Knight J, Holmes RP. Mitochondrial hydroxyproline metabolism: implications for primary hyperoxaluria. Am J Nephrol. 2005 Mar-Apr;25(2):171-5. Epub 2005 Apr 21. (http://www.ncbi.nlm.nih.gov/pubmed/15849464?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/9380)
  • Pirulli D, Marangella M, Amoroso A. Primary hyperoxaluria: genotype-phenotype correlation. J Nephrol. 2003 Mar-Apr;16(2):297-309. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12768081?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/11030416?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: January 2008
Published: April 21, 2014