The RAD51 gene provides instructions for making a protein that is essential for repairing damaged DNA. Exposure to radiation, ultraviolet light, or certain chemicals can cause breaks in DNA. Breaks also occur when chromosomes exchange genetic material in preparation for cell division. The RAD51 protein attaches (binds) to the DNA at the site of a break and encases it in a protein sheath, which is an essential step in the repair process.

In the nucleus of many cells, the RAD51 protein interacts with many other proteins, including other RAD51 proteins, BRCA1, and BRCA2. The RAD51 protein needs to bind to other RAD51 proteins to function effectively. The BRCA2 protein regulates the activity of the RAD51 protein by transporting it to sites of DNA damage in the nucleus. The interaction between the BRCA1 protein and the RAD51 protein is less clear, although research suggests that BRCA1 may also activate RAD51 in response to DNA damage. By helping repair DNA, these three proteins play a role in maintaining the stability of a cell's genetic information.

The RAD51 protein is also thought to play a role in the developing nervous system, specifically in the development of nerve cells (neurons) that extend down the spinal cord (corticospinal tracts). These neurons send electrical signals that lead to voluntary muscle movement.

Tests Listed in the Genetic Testing Registry

• Tests of RAD51

Scientific Articles on PubMed

• PubMed

Catalog of Genes and Diseases from OMIM

• RAD51 RECOMBINASE; RAD51

Gene and Variant Databases

• NCBI Gene
• ClinVar

• Ameziane N, May P, Haitjema A, van de Vrugt HJ, van Rossum-Fikkert SE, Ristic D, Williams GJ, Balk J, Rockx D, Li H, Rooimans MA, Oostra AB, Velleuer E, Dietrich R, Bleijerveld OB, Maarten Altelaar AF, Meijers-Heijboer H, Joenje H, Glusman G, Roach J, Hood L, Galas D, Wyman C, Balling R, den Dunnen J, de Winter JP, Kanaar R, Gelinas R, Dorsman JC. A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51. Nat Commun. 2015 Dec 18;6:8829. doi: 10.1038/ncomms9829. Citation on PubMed
• Depienne C, Bouteiller D, Meneret A, Billot S, Groppa S, Klebe S, Charbonnier-Beaupel F, Corvol JC, Saraiva JP, Brueggemann N, Bhatia K, Cincotta M, Brochard V, Flamand-Roze C, Carpentier W, Meunier S, Marie Y, Gaussen M, Stevanin G, Wehrle R, Vidailhet M, Klein C, Dusart I, Brice A, Roze E. RAD51 haploinsufficiency causes congenital mirror movements in humans. Am J Hum Genet. 2012 Feb 10;90(2):301-7. doi: 10.1016/j.ajhg.2011.12.002. Epub 2012 Feb 2. Citation on PubMed or Free article on PubMed Central
• Franz EA, Chiaroni-Clarke R, Woodrow S, Glendining KA, Jasoni CL, Robertson SP, Gardner RJM, Markie D. Congenital mirror movements: phenotypes associated with DCC and RAD51 mutations. J Neurol Sci. 2015 Apr 15;351(1-2):140-145. doi: 10.1016/j.jns.2015.03.006. Epub 2015 Mar 10. Citation on PubMed
• Gallea C, Popa T, Hubsch C, Valabregue R, Brochard V, Kundu P, Schmitt B, Bardinet E, Bertasi E, Flamand-Roze C, Alexandre N, Delmaire C, Meneret A, Depienne C, Poupon C, Hertz-Pannier L, Cincotta M, Vidailhet M, Lehericy S, Meunier S, Roze E. RAD51 deficiency disrupts the corticospinal lateralization of motor control. Brain. 2013 Nov;136(Pt 11):3333-46. doi: 10.1093/brain/awt258. Epub 2013 Sep 20. Citation on PubMed
• Mehta PA, Ebens C. Fanconi Anemia. 2002 Feb 14 [updated 2021 Jun 3]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from http://www.ncbi.nlm.nih.gov/books/NBK1401/ Citation on PubMed
• Meneret A, Depienne C, Riant F, Trouillard O, Bouteiller D, Cincotta M, Bitoun P, Wickert J, Lagroua I, Westenberger A, Borgheresi A, Doummar D, Romano M, Rossi S, Defebvre L, De Meirleir L, Espay AJ, Fiori S, Klebe S, Quelin C, Rudnik-Schoneborn S, Plessis G, Dale RC, Sklower Brooks S, Dziezyc K, Pollak P, Golmard JL, Vidailhet M, Brice A, Roze E. Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases. Neurology. 2014 Jun 3;82(22):1999-2002. doi: 10.1212/WNL.0000000000000477. Epub 2014 May 7. Citation on PubMed or Free article on PubMed Central
• Meneret A, Trouillard O, Dunoyer M, Depienne C, Roze E. Congenital Mirror Movements. 2015 Mar 12 [updated 2020 Sep 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from http://www.ncbi.nlm.nih.gov/books/NBK279760/ Citation on PubMed
• Trouillard O, Dupaigne P, Dunoyer M, Doulazmi M, Herlin MK, Frismand S, Riou A, Legros V, Chevreux G, Veaute X, Busso D, Fouquet C, Saint-Martin C, Meneret A, Trembleau A, Dusart I, Dubacq C, Roze E. Congenital mirror movements are associated with defective polymerisation of RAD51. J Med Genet. 2023 Nov;60(11):1116-1126. doi: 10.1136/jmg-2023-109189. Epub 2023 Jun 12. Citation on PubMed
• Trouillard O, Koht J, Gerstner T, Moland S, Depienne C, Dusart I, Meneret A, Ruiz M, Dubacq C, Roze E. Congenital Mirror Movements Due to RAD51: Cosegregation with a Nonsense Mutation in a Norwegian Pedigree and Review of the Literature. Tremor Other Hyperkinet Mov (N Y). 2016 Nov 3;6:424. doi: 10.7916/D8BK1CNF. eCollection 2016. Citation on PubMed