What gene is mutated in NF1?

What gene is mutated in NF1?

NF type 1 is caused by a mutation in a gene on chromosome 17. This gene provides the instructions for making a protein called neurofibromin. This protein is produced in many cells, including nerve cells and specialized cells surrounding nerves (oligodendrocytes and Schwann cells).

What is gene NF1?

NF1 . The NF1 gene is located on chromosome 17. This gene produces a protein called neurofibromin that helps regulate cell growth. The mutated gene causes a loss of neurofibromin, which allows cells to grow uncontrolled.

Is the NF1 gene a tumor suppressor?

NF1 is caused by mutations which inactivate the NF1 gene on chromosome 17q, while the NF2 gene is on chromsome 22. Both genes are tumour suppressor genes. The product of the NF1 gene, called neurofibromin, is a large protein of 2818 amino acids.

Is NF1 a dominant or recessive gene?

Neurofibromatosis type 1 is considered to have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the NF1 gene in each cell. In about half of cases, the altered gene is inherited from an affected parent .

Is NF1 an autoimmune disease?

Various autoimmune diseases that have been reported in association with NF1 include multiple sclerosis, systemic lupus erythematosus, membranous glomerulonephritis, IgA nephropathy, mixed connective tissue disease, juvenile arthritis, autoimmune hemolytic anemia, bullous pemphigoid, and Graves disease.

Can neurofibromatosis be prevented?

Can neurofibromatosis be prevented or avoided? You cannot avoid NF. You can have genetic testing to see if you carry the gene.

How does NF1 affect a person's life?

If there are no complications, the life expectancy of people with NF is almost normal. With the right education, people with NF can live a normal life. Although mental impairment is generally mild, NF1 is a known cause of attention deficit hyperactivity disorder. Learning disabilities are a common problem.

What part of the body does neurofibromatosis affect?

Neurofibromatosis (NF) is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin. Tumors, or neurofibromas, grow along the body's nerves or on or underneath the skin.

Are neurofibromas painful?

Neurofibromas appear as one or more lumps on or under the skin. They may be painful or itch, but many do not cause any symptoms. Neurofibromas growing deep in the body can cause pain, numbness, tingling or weakness if they press on nerves.

What does NF1 code for?

Neurofibromin 1 (NF1) is a gene in humans that is located on chromosome 17. NF1 codes for neurofibromin, a GTPase-activating protein that negatively regulates RAS/MAPK pathway activity by accelerating the hydrolysis of Ras-bound GTP.

What does NF1 stand for?

• NF1 stands for Neurofibromatosis Type 1 (aka Von Recklinghausen or Classic Peripheral Neurofibromatosis) Suggest new definition. This definition appears very frequently and is found in the following Acronym Finder categories: Science, medicine, engineering, etc.

How do people get NF1?

• Although many people with NF1 inherit the gene that causes the condition, between 30 and 50 percent of cases arise from a spontaneous genetic mutation in the NF1 gene. Once this mutation has occurred, the abnormal gene can be inherited. Each child of an affected parent has a 50 percent chance of inheriting the gene mutation.

Why is NF1 autosomal dominant?

• This condition is caused by genetic changes (DNA variants) in the NF1 gene and is inherited in an autosomal dominant pattern. NF1 is diagnosed based on a clinical examination, the specific signs and symptoms, and genetic testing. Treatment is based on the signs and symptoms present in each person.