NF1 gene

The NF1 gene provides instructions to produce a protein called neurofibromin, which helps regulate cell growth and division. It acts as a brake to prevent cells from growing uncontrollably. When the NF1 gene is mutated or not working properly, this control is lost, leading to the development of tumors called neurofibromas along nerves. These tumors are characteristic of neurofibromatosis type 1 (NF1), a genetic disorder that can cause skin spots, learning difficulties, and other health issues. NF1 is inherited in an autosomal dominant pattern, meaning only one copy of the altered gene can cause the disorder.