Neurofibromina 1

Also known as truncated neurofibromin 1, neurofibromin, neurofibromatosis 1, NF1, neurofibromatosis-related protein NF-1

Neurofibromin (NF-1) is a protein that is encoded in humans, in the NF1 gene. NF1 is located on chromosome 17. Neurofibromin, a GTPase-activating protein that negatively regulates RAS/MAPK pathway activity by accelerating the hydrolysis of Ras-bound GTP. NF1 has a high mutation rate and mutations can alter cellular growth control, and neural development, resulting in various presentations (depending on the specific allele expressed) such as Watson syndrome and neurofibromatosis type 1 (NF1, also known as von Recklinghausen syndrome). Symptoms of NF1 include disfiguring cutaneous neurofibromas