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BRAF gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

BRAF gene

The BRAF gene encodes a protein that transmits chemical signals essential for regulating cell growth, division, and maturation.

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 the RAS/MAPK pathway, which regulates cell growth and division (proliferation), maturation (differentiation), cell movement (migration), and self-destruction (apoptosis). The BRAF gene is an oncogene, meaning that when mutated, it has the potential to cause normal cells to become cancerous.

Health Conditions Related to Genetic Changes

Cardiofaciocutaneous syndrome

Mutations in the BRAF gene are the most common cause of this syndrome, which affects the heart, facial features, and the skin and hair. These mutations abnormally activate the protein, disrupting the RAS/MAPK signaling pathway and interfering with the normal development of many organs and tissues.

Erdheim-Chester disease

This rare condition involves the abnormal production and accumulation of immune system cells called histiocytes. A somatic mutation, specifically the Val600Glu (V600E) mutation, leads to an abnormally active BRAF protein, allowing histiocytes to grow and divide uncontrollably.

Giant congenital melanocytic nevus

A somatic V600E mutation occurring during embryonic development in pigment-producing skin cells (melanocytes) leads to the unregulated cell proliferation that causes the large, dark patches of skin characteristic of this condition.

Noonan syndrome with multiple lentigines

Mutations in the BRAF gene (such as Thr241Pro or Leu245Phe) abnormally activate the protein, disrupting the regulation of the RAS/MAPK pathway and resulting in features such as multiple brown skin spots (lentigines), heart defects, and short stature.

Langerhans cell histiocytosis

Somatic mutations, most frequently V600E, cause the BRAF protein to be continuously active in Langerhans cells. This allows these immune cells to grow and divide uncontrollably, often leading to the formation of tumors called granulomas.

Melanoma

The V600E mutation is found in about half of noninherited (sporadic) cases of melanoma. While this mutation often leads only to the formation of a noncancerous mole, at least one additional mutation is typically necessary for the development of melanoma.

General Cancer Association

Somatic mutations in the BRAF gene are common in several types of cancer, including cancers of the colon, rectum, ovary, and thyroid gland. These mutations cause the BRAF protein to be continuously active, transmitting growth signals to the nucleus even in the absence of external chemical signals.

Other Names for This Gene

  • 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

Frequently Asked Questions

n inherited mutation is present in every cell of the body from conception and is passed down from a parent, often causing developmental syndromes like Cardiofaciocutaneous syndrome. A somatic mutation occurs in a specific cell after conception and is not passed to offspring; these mutations are common in cancers and conditions like Erdheim-Chester disease, where only the affected tissue carries the change. How does the V600E mutation specifically affect the body's cells?::The V600E mutation causes the BRAF protein to remain permanently active, even without external signals. This continuous activation drives the RAS/MAPK pathway, instructing cells to grow and divide uncontrollably. In conditions like Langerhans cell histiocytosis or certain melanomas, this leads to the accumulation of abnormal cells that can form tumors or disrupt normal tissue function. Are there specific treatments available for conditions caused by BRAF mutations?::Yes, targeted therapies known as BRAF inhibitors are available for many conditions driven by the V600E mutation. These drugs specifically block the activity of the mutated protein, slowing or stopping the growth of abnormal cells. They are used in treating melanoma, Erdheim-Chester disease, and Langerhans cell histiocytosis, often in combination with MEK inhibitors for better efficacy. What role does the BRAF gene play in Noonan syndrome with multiple lentigines?::In this condition, specific mutations in the BRAF gene, such as Thr241Pro or Leu245Phe, lead to abnormal activation of the signaling pathway. This disruption affects the development of the heart, skin, and growth, resulting in characteristic features like multiple brown spots on the skin, heart defects, and short stature. Unlike cancer-associated mutations, these are typically germline mutations present from birth.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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