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RAF1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

RAF1 gene

The RAF1 gene provides instructions for a protein that transmits signals to the cell nucleus to control growth, division, and other vital cellular processes.

Normal Function

The RAF1 gene provides instructions for a protein that is part of the RAS/MAPK pathway. This pathway transmits chemical signals from outside the cell to the nucleus, helping to control:

  • Cell growth and division (proliferation)
  • Cell maturation (differentiation)
  • Cell movement (migration)
  • Self-destruction of cells (apoptosis)

The RAF1 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

Noonan syndrome

Mutations in the RAF1 gene can cause Noonan syndrome, a condition characterized by unusual facial characteristics, short stature, heart defects, and bleeding problems. These mutations increase protein activity and disrupt the regulation of the RAS/MAPK pathway. People with RAF1-related Noonan syndrome have a higher incidence of heart defects, specifically hypertrophic cardiomyopathy, a thickening of the heart muscle.

Noonan syndrome with multiple lentigines

Mutations in the RAF1 gene can also cause Noonan syndrome with multiple lentigines (formerly LEOPARD syndrome). This condition features multiple brown skin spots, heart defects, short stature, and chest abnormalities. These mutations abnormally activate the RAF1 protein, disrupting the regulation of cell functions.

Bladder cancer

MedlinePlus Genetics provides information about Bladder cancer.

Cancers

Somatic mutations (acquired during a lifetime) in the RAF1 gene are involved in the development of several types of cancer, including ovarian, lung, and colorectal cancers. These mutations lead to a protein that is always active, directing cells to grow and divide uncontrollably. Somatic mutations in this gene are a rare cause of cancer.

Other Names for This Gene

  • c-Raf
  • CRAF
  • Oncogene RAF1
  • raf proto-oncogene serine/threonine protein kinase
  • Raf-1
  • RAF1_HUMAN

Genomic Location

The RAF1 gene is found on chromosome 3.

Frequently Asked Questions

tumor biopsy is sent for molecular profiling (next‑generation sequencing or targeted PCR). The lab tests for point mutations, insertions, or deletions in the RAF1 coding region. Results guide eligibility for RAF1‑targeted therapies or clinical trials.
Yes. If a parent carries a known RAF1 pathogenic variant, chorionic villus sampling (10‑12 weeks) or amniocentesis (15‑18 weeks) can test fetal DNA for the same mutation. Non‑invasive prenatal testing (NIPT) currently does not reliably detect single‑gene RAF1 changes, so invasive testing is required for definitive results.
While the mutation itself cannot be removed, regular cancer screening (e.g., colonoscopy, low‑dose CT for lung, urine cytology for bladder) and lifestyle measures—avoiding tobacco, maintaining a healthy weight, and limiting exposure to known carcinogens—can lower overall risk.
Look for rapid breathing, chest pain, fainting, excessive sweating during activity, or a new heart murmur. These can signal hypertrophic cardiomyopathy or other heart defects and require prompt cardiology assessment, often including an echocardiogram.
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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