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Genetics Home Reference: your guide to understanding genetic conditions
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PARK7

Reviewed May 2012

What is the official name of the PARK7 gene?

The official name of this gene is “parkinson protein 7.”

PARK7 is the gene's official symbol. The PARK7 gene is also known by other names, listed below.

What is the normal function of the PARK7 gene?

The PARK7 gene provides instructions for making the DJ-1 protein. This protein is found in many tissues and organs, including the brain. Studies indicate that the DJ-1 protein has several functions, although none are fully understood. One of the protein's functions may be to help protect cells, particularly brain cells, from oxidative stress. Oxidative stress occurs when unstable molecules called free radicals accumulate to levels that can damage or kill cells. Additionally, the DJ-1 protein may serve as a chaperone molecule that helps fold newly produced proteins into the proper 3-dimensional shape and helps refold damaged proteins. Like other chaperone molecules, the DJ-1 protein may assist in delivering selected proteins to proteasomes, which are structures within cells that break down unneeded molecules. Researchers suggest that the DJ-1 protein may also play a role in activities that produce and process RNA, a chemical cousin of DNA.

Does the PARK7 gene share characteristics with other genes?

The PARK7 gene belongs to a family of genes called PARK (Parkinson disease).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the PARK7 gene related to health conditions?

Parkinson disease - caused by mutations in the PARK7 gene

Researchers have identified more than 25 PARK7 gene mutations that can cause Parkinson disease, a condition characterized by progressive problems with movement and balance. These mutations are associated with the early-onset form of the disorder, which begins before age 50. Some PARK7 gene mutations lead to an abnormally small DJ-1 protein or change the building blocks (amino acids) used to make the protein. The altered protein is unstable and does not function properly, if at all. Other mutations delete a large portion of the PARK7 gene, preventing the production of any functional DJ-1 protein.

It is unclear how loss of functional DJ-1 protein leads to Parkinson disease. Some studies suggest that PARK7 gene mutations disrupt the protein's chaperone function, which leads to a toxic buildup of misfolded or damaged proteins and eventually to cell death. Another possibility is that PARK7 gene mutations impair the protein's ability to protect cells from destructive oxidative stress. Nerve cells that make the chemical messenger dopamine are particularly vulnerable to oxidative stress. With diminished protection, free radicals may cause enough damage to kill these nerve cells. Progressive loss of dopamine-producing nerve cells is a characteristic feature of Parkinson disease. The death of these cells weakens communication between the brain and muscles, and ultimately the brain becomes unable to control muscle movement.

Where is the PARK7 gene located?

Cytogenetic Location: 1p36.23

Molecular Location on chromosome 1: base pairs 7,961,653 to 7,985,281

The PARK7 gene is located on the short (p) arm of chromosome 1 at position 36.23.

The PARK7 gene is located on the short (p) arm of chromosome 1 at position 36.23.

More precisely, the PARK7 gene is located from base pair 7,961,653 to base pair 7,985,281 on chromosome 1.

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 PARK7?

You and your healthcare professional may find the following resources about PARK7 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 PARK7 gene or gene products?

  • DJ1
  • DJ-1
  • PARK7_HUMAN
  • Parkinson disease (autosomal recessive, early onset) 7

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 PARK7?

acids ; autosomal ; autosomal recessive ; cell ; chaperone ; DNA ; dopamine ; free radicals ; gene ; molecule ; oxidative stress ; protein ; recessive ; RNA ; stress ; toxic

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

References

  • Abou-Sleiman PM, Healy DG, Quinn N, Lees AJ, Wood NW. The role of pathogenic DJ-1 mutations in Parkinson's disease. Ann Neurol. 2003 Sep;54(3):283-6. (http://www.ncbi.nlm.nih.gov/pubmed/12953260?dopt=Abstract)
  • Abou-Sleiman PM, Healy DG, Wood NW. Causes of Parkinson's disease: genetics of DJ-1. Cell Tissue Res. 2004 Oct;318(1):185-8. Epub 2004 Jun 26. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15503154?dopt=Abstract)
  • Bonifati V, Oostra BA, Heutink P. Linking DJ-1 to neurodegeneration offers novel insights for understanding the pathogenesis of Parkinson's disease. J Mol Med (Berl). 2004 Mar;82(3):163-74. Epub 2004 Jan 8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14712351?dopt=Abstract)
  • Bonifati V, Rizzu P, van Baren MJ, Schaap O, Breedveld GJ, Krieger E, Dekker MC, Squitieri F, Ibanez P, Joosse M, van Dongen JW, Vanacore N, van Swieten JC, Brice A, Meco G, van Duijn CM, Oostra BA, Heutink P. Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science. 2003 Jan 10;299(5604):256-9. Epub 2002 Nov 21. (http://www.ncbi.nlm.nih.gov/pubmed/12446870?dopt=Abstract)
  • da Costa CA. DJ-1: a newcomer in Parkinson's disease pathology. Curr Mol Med. 2007 Nov;7(7):650-7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18045143?dopt=Abstract)
  • Kahle PJ, Waak J, Gasser T. DJ-1 and prevention of oxidative stress in Parkinson's disease and other age-related disorders. Free Radic Biol Med. 2009 Nov 15;47(10):1354-61. doi: 10.1016/j.freeradbiomed.2009.08.003. Epub 2009 Aug 14. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19686841?dopt=Abstract)
  • Miller DW, Ahmad R, Hague S, Baptista MJ, Canet-Aviles R, McLendon C, Carter DM, Zhu PP, Stadler J, Chandran J, Klinefelter GR, Blackstone C, Cookson MR. L166P mutant DJ-1, causative for recessive Parkinson's disease, is degraded through the ubiquitin-proteasome system. J Biol Chem. 2003 Sep 19;278(38):36588-95. Epub 2003 Jul 8. (http://www.ncbi.nlm.nih.gov/pubmed/12851414?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/11315)
  • Nuytemans K, Theuns J, Cruts M, Van Broeckhoven C. Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update. Hum Mutat. 2010 Jul;31(7):763-80. doi: 10.1002/humu.21277. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20506312?dopt=Abstract)
  • Taira T, Saito Y, Niki T, Iguchi-Ariga SM, Takahashi K, Ariga H. DJ-1 has a role in antioxidative stress to prevent cell death. EMBO Rep. 2004 Feb;5(2):213-8. Epub 2004 Jan 23. Erratum in: EMBO Rep. 2004 Apr;5(4):430. (http://www.ncbi.nlm.nih.gov/pubmed/14749723?dopt=Abstract)
  • Zhou W, Zhu M, Wilson MA, Petsko GA, Fink AL. The oxidation state of DJ-1 regulates its chaperone activity toward alpha-synuclein. J Mol Biol. 2006 Mar 3;356(4):1036-48. Epub 2005 Dec 27. (http://www.ncbi.nlm.nih.gov/pubmed/16403519?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: May 2012
Published: July 21, 2014