Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
 
Home A service of the U.S. National Library of Medicine®
 
 
Printer-friendly version
GRHPR

GRHPR

Reviewed December 2015

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.

Read more about gene names and symbols on the About page.

What is the normal function of the GRHPR gene?

The GRHPR gene provides instructions for making an enzyme called glyoxylate reductase/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.

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

primary hyperoxaluria - caused by mutations in the GRHPR gene

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 reductase/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.

Where is the GRHPR gene located?

Cytogenetic Location: 9q12

Molecular Location on chromosome 9: base pairs 37,422,666 to 37,436,993

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

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 37,422,666 to base pair 37,436,993 on chromosome 9.

See How do geneticists indicate the location of a gene? 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?

  • D-glycerate dehydrogenase
  • GLXR
  • GRHPR_HUMAN
  • PH2

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding GRHPR?

calcium ; compound ; dehydrogenase ; enzyme ; gene ; glucose ; kidney ; simple sugar

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (7 links)

 

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? in the Handbook.

 
Reviewed: December 2015
Published: February 8, 2016