Reviewed March 2008
What is the official name of the BRAF gene?
The official name of this gene is “v-raf murine sarcoma viral oncogene homolog B1.”
BRAF is the gene's official symbol. The BRAF gene is also known by other names, listed below.
What is the normal function of the BRAF gene?
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 helps control the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement, 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.
How are changes in the BRAF gene related to health conditions?
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cardiofaciocutaneous syndrome - caused by mutations in the BRAF gene
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Mutations in the BRAF gene are the most common cause of cardiofaciocutaneous syndrome. At least 20 BRAF mutations have been identified in people with this disorder. These mutations change single protein building blocks (amino acids) in the BRAF protein. Almost all of these genetic changes abnormally activate the protein, which disrupts the tightly regulated RAS/MAPK signaling pathway in cells throughout the body. The altered signaling interferes with the normal development of many organs and tissues, resulting in the characteristic features of cardiofaciocutaneous syndrome.
- cancers - associated with the BRAF gene
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Some gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes, which are called somatic mutations, are not inherited. Somatic mutations in the BRAF gene are common in several types of cancer. Normally, the BRAF protein is switched on and off in response to signals that control cell growth and development. Somatic mutations cause the BRAF protein to be continuously active and to relay messages to the nucleus even in the absence of these chemical signals. The overactive protein may contribute to the growth of cancers by allowing abnormal cells to grow and divide uncontrollably.
The most common BRAF mutation found in human cancers replaces the amino acid valine with the amino acid glutamic acid at position 600 in the BRAF protein (written as Val600Glu or V600E). This mutation frequently has been found in an aggressive form of skin cancer called melanoma and in cancers of the colon and rectum, ovary, and thyroid gland. Several other somatic BRAF mutations have also been associated with cancer.
Where is the BRAF gene located?
Cytogenetic Location: 7q34
Molecular Location on chromosome 7: base pairs 140,080,750 to 140,271,032
The BRAF gene is located on the long (q) arm of chromosome 7 at position 34.
More precisely, the BRAF gene is located from base pair 140,080,750 to base pair 140,271,032 on chromosome 7.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about BRAF?
What other names do people use for the BRAF gene or gene products?
- B-raf 1
- BRAF1
- BRAF1_HUMAN
- B-Raf proto-oncogene serine/threonine-protein kinase
- 94 kDa B-raf protein
- Murine sarcoma viral (v-raf) oncogene homolog B1
- p94
- RAFB1
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 BRAF?
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.