Neurofibromin 1

Neurofibromin 1 (NF1) is a gene that encodes the protein neurofibromin, which is primarily known for its role in suppressing the development of tumors. Mutations in the NF1 gene can lead to a variety of medical conditions, most notably Neurofibromatosis type I (NF1), a genetic disorder characterized by the growth of tumors along nerves in the skin, brain, and other parts of the body.

Function

The NF1 gene provides instructions for making the protein neurofibromin, which is found in many cells throughout the body. Neurofibromin acts as a tumor suppressor, which means it regulates cell growth and keeps cells from growing and dividing too rapidly or in an uncontrolled way. It does this by turning off a protein called Ras, which stimulates cell division and growth.

Clinical significance

Mutations in the NF1 gene are responsible for causing Neurofibromatosis type I. This condition is characterized by changes in skin coloring (pigmentation) and the growth of tumors along nerves in the skin, brain, and other parts of the body. The signs and symptoms of this condition vary widely among affected people.

Genetics

The NF1 gene is located on the long (q) arm of chromosome 17 at position 11.2. More than 1,000 mutations in the NF1 gene have been identified in people with Neurofibromatosis type I. Most of these mutations lead to the production of a nonfunctional version of neurofibromin that cannot regulate cell growth and division. As a result, cells divide uncontrollably and form tumors.

See also

• Neurofibromatosis
• Ras (protein)
• Tumor suppressor