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TGFB1 gene

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

TGFB1 gene

The TGFB1 gene provides instructions for producing the TGFβ-1 protein, which regulates essential cell activities and plays a critical role in bone and tissue development.

Normal Function

The TGFB1 gene provides instructions for producing a protein called transforming growth factor beta-1 (TGFβ-1). The TGFβ-1 protein triggers chemical signals that regulate various cell activities, including the growth and division (proliferation) of cells, the maturation of cells to carry out specific functions (differentiation), cell movement (motility), and controlled cell death (apoptosis).

The TGFβ-1 protein is found throughout the body but is particularly abundant in tissues that make up the skeleton, where it helps regulate the formation and growth of bone and cartilage. TGFβ-1 is also involved in the formation of blood vessels, development of muscle tissue and body fat, wound healing, inflammatory processes in the immune system, and prevention of tumor growth.

Health Conditions Related to Genetic Changes

Camurati-Engelmann disease

At least 12 mutations in the TGFB1 gene have been found to cause Camurati-Engelmann disease, a condition characterized by abnormally thick bones (hyperostosis) in the arms, legs, and skull. This can lead to bone pain, muscle weakness, and neurological problems such as headaches and hearing or vision impairment.

  • Most mutations change single amino acids in the TGFβ-1 protein.
  • Three specific mutations account for approximately 75 percent of cases: Arg218Cys (R218C), Arg218His (R218H), and Cys225Arg (C225R).
  • These mutations result in an overly active TGFβ-1 protein, which increases signal transduction and leads to excessive bone formation.

Idiopathic pulmonary fibrosis

MedlinePlus Genetics provides information about Idiopathic pulmonary fibrosis.

Cancers

Changes in the TGFB1 gene have been associated with certain cancers, including breast, colorectal, lung, liver, and prostate cancer. These variants are acquired during a person's lifetime and are present only in certain cells. Altered protein expression may increase cell processes that promote cancer formation, such as cell proliferation, cell motility, and the development of new blood vessels (angiogenesis) that nourish a growing tumor.

Frequently Asked Questions

Early symptoms of Camurati-Engelmann disease often include chronic bone pain, particularly in the long bones of the arms and legs, and muscle weakness. Children may also experience a waddling gait, fatigue, and sometimes headaches or vision/hearing problems due to skull bone thickening. These symptoms typically appear in childhood or adolescence.
Management focuses on alleviating symptoms. Pain can be managed with nonsteroidal anti-inflammatory drugs (NSAIDs) or corticosteroids. Physical therapy can help maintain muscle strength and mobility. In some cases, surgery may be needed to relieve pressure on nerves or to correct severe bone deformities. Regular monitoring for neurological complications is also important.
Yes, Camurati-Engelmann disease is inherited in an autosomal dominant pattern. This means only one copy of the mutated TGFB1 gene is sufficient to cause the condition. An affected individual has a 50% chance of passing the mutation to each child. Genetic counseling is recommended for affected individuals and their families.
While TGFB1 mutations cause Camurati-Engelmann disease, variations or acquired changes in the TGFB1 gene are associated with an increased risk or progression of certain cancers (like breast, colorectal, lung) and idiopathic pulmonary fibrosis. In these cases, the gene's altered function can contribute to uncontrolled cell growth or excessive scarring, but these are distinct from the specific inherited mutations causing Camurati-Engelmann disease.
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.