B-Raf proto-oncogene, serine/threonine kinase
Last updated 28 May 2021
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The BRAF gene provides instructions for making a protein that helps transmit chemical signals from outside the cell to the cell's nucleus. This protein is part of a signaling pathway known as the RAS/MAPK pathway, which controls several important cell functions. Specifically, the RAS/MAPK pathway regulates the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement (migration), and the self-destruction of cells (apoptosis). Chemical signaling through this pathway is essential for normal development before birth.
Normal function
The BRAF gene provides instructions for making a protein that helps transmit chemical signals from outside the cell to the cell's nucleus. This protein is part of a signaling pathway known as the RAS/MAPK pathway, which controls several important cell functions. Specifically, the RAS/MAPK pathway regulates the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement (migration), and the self-destruction of cells (apoptosis). Chemical signaling through this pathway is essential for normal development before birth.
The BRAF gene belongs to a class of genes known as oncogenes. When mutated, oncogenes have the potential to cause normal cells to become cancerous.
Conditions referring to this gene or chromosome
Other names
94 kDa B-raf protein
B-raf 1
B-Raf proto-oncogene serine/threonine-protein kinase
BRAF1
BRAF1_HUMAN
Murine sarcoma viral (v-raf) oncogene homolog B1
p94
RAFB1
v-raf murine sarcoma viral oncogene homolog B
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Further reading and references
- B-Raf proto-oncogene, serine/threonine kinase; MedlinePlus, National Library of Medicine.
- Allen CE, Parsons DW. Biological and clinical significance of somatic mutations in Langerhans cell histiocytosis and related histiocytic neoplastic disorders. Hematology Am Soc Hematol Educ Program. 2015;2015:559-64. doi: 10.1182/asheducation-2015.1.559.
- Aoki Y, Niihori T, Narumi Y, Kure S, Matsubara Y. The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders. Hum Mutat. 2008 Aug;29(8):992-1006. doi: 10.1002/humu.20748.
- Badalian-Very G, Vergilio JA, Degar BA, MacConaill LE, Brandner B, Calicchio ML, Kuo FC, Ligon AH, Stevenson KE, Kehoe SM, Garraway LA, Hahn WC, Meyerson M, Fleming MD, Rollins BJ. Recurrent BRAF mutations in Langerhans cell histiocytosis. Blood. 2010 Sep 16;116(11):1919-23. doi: 10.1182/blood-2010-04-279083. Epub 2010 Jun 2.
- Bosco J, Allende A, Varikatt W, Lee R, Stewart GJ. Does the BRAF(V600E) mutation herald a new treatment era for Erdheim-Chester disease? A case-based review of a rare and difficult to diagnose disorder. Intern Med J. 2015 Mar;45(3):348-51. doi: 10.1111/imj.12685.
- Campochiaro C, Tomelleri A, Cavalli G, Berti A, Dagna L. Erdheim-Chester disease. Eur J Intern Med. 2015 May;26(4):223-9. doi: 10.1016/j.ejim.2015.03.004. Epub 2015 Apr 10.
- Cives M, Simone V, Rizzo FM, Dicuonzo F, Cristallo Lacalamita M, Ingravallo G, Silvestris F, Dammacco F. Erdheim-Chester disease: a systematic review. Crit Rev Oncol Hematol. 2015 Jul;95(1):1-11. doi: 10.1016/j.critrevonc.2015.02.004. Epub 2015 Feb 17.
- Dhomen N, Marais R. New insight into BRAF mutations in cancer. Curr Opin Genet Dev. 2007 Feb;17(1):31-9. doi: 10.1016/j.gde.2006.12.005.
- Gelb BD, Tartaglia M. Noonan Syndrome with Multiple Lentigines. 2007 Nov 30 [updated 2022 Jun 30]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1383/
- Harmon CM, Brown N. Langerhans Cell Histiocytosis: A Clinicopathologic Review and Molecular Pathogenetic Update. Arch Pathol Lab Med. 2015 Oct;139(10):1211-4. doi: 10.5858/arpa.2015-0199-RA.
- Haroche J, Arnaud L, Cohen-Aubart F, Hervier B, Charlotte F, Emile JF, Amoura Z. Erdheim-Chester disease. Curr Rheumatol Rep. 2014 Apr;16(4):412. doi: 10.1007/s11926-014-0412-0.
- Rauen KA. Cardiofaciocutaneous Syndrome. 2007 Jan 18 [updated 2026 May 21]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1186/
- Roden AC, Hu X, Kip S, Parrilla Castellar ER, Rumilla KM, Vrana JA, Vassallo R, Ryu JH, Yi ES. BRAF V600E expression in Langerhans cell histiocytosis: clinical and immunohistochemical study on 25 pulmonary and 54 extrapulmonary cases. Am J Surg Pathol. 2014 Apr;38(4):548-51. doi: 10.1097/PAS.0000000000000129.
- Rollins BJ. Genomic Alterations in Langerhans Cell Histiocytosis. Hematol Oncol Clin North Am. 2015 Oct;29(5):839-51. doi: 10.1016/j.hoc.2015.06.004.
- Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME, Roberts AE, Robinson W, Takemoto CM, Noonan JA. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2010 Oct;126(4):746-59. doi: 10.1542/peds.2009-3207. Epub 2010 Sep 27.
- Salgado CM, Basu D, Nikiforova M, Bauer BS, Johnson D, Rundell V, Grunwaldt LJ, Reyes-Mugica M. BRAF mutations are also associated with neurocutaneous melanocytosis and large/giant congenital melanocytic nevi. Pediatr Dev Pathol. 2015 Jan-Feb;18(1):1-9. doi: 10.2350/14-10-1566-OA.1. Epub 2014 Dec 9.
- Sarkozy A, Carta C, Moretti S, Zampino G, Digilio MC, Pantaleoni F, Scioletti AP, Esposito G, Cordeddu V, Lepri F, Petrangeli V, Dentici ML, Mancini GM, Selicorni A, Rossi C, Mazzanti L, Marino B, Ferrero GB, Silengo MC, Memo L, Stanzial F, Faravelli F, Stuppia L, Puxeddu E, Gelb BD, Dallapiccola B, Tartaglia M. Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. Hum Mutat. 2009 Apr;30(4):695-702. doi: 10.1002/humu.20955.
- Satoh T, Smith A, Sarde A, Lu HC, Mian S, Trouillet C, Mufti G, Emile JF, Fraternali F, Donadieu J, Geissmann F. B-RAF mutant alleles associated with Langerhans cell histiocytosis, a granulomatous pediatric disease. PLoS One. 2012;7(4):e33891. doi: 10.1371/journal.pone.0033891. Epub 2012 Apr 10.
- Zebary A, Omholt K, van Doorn R, Ghiorzo P, Harbst K, Hertzman Johansson C, Hoiom V, Jonsson G, Pjanova D, Puig S, Scarra GB, Harland M, Olsson H, Egyhazi Brage S, Palmer J, Kanter-Lewensohn L, Vassilaki I, Hayward NK, Newton-Bishop J, Gruis NA, Hansson J; Melanoma Genetics Consortium (GenoMEL). Somatic BRAF and NRAS mutations in familial melanomas with known germline CDKN2A status: a GenoMEL study. J Invest Dermatol. 2014 Jan;134(1):287-290. doi: 10.1038/jid.2013.270. Epub 2013 Jun 14. No abstract available.
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