![cover image](https://wikiwandv2-19431.kxcdn.com/_next/image?url=https://upload.wikimedia.org/wikipedia/commons/thumb/6/63/PBB_Protein_NF1_image.jpg/640px-PBB_Protein_NF1_image.jpg&w=640&q=50)
Neurofibromin 1
Mammalian protein found in humans / From Wikipedia, the free encyclopedia
Dear Wikiwand AI, let's keep it short by simply answering these key questions:
Can you list the top facts and stats about Neurofibromin 1?
Summarize this article for a 10 year old
Neurofibromin 1 (NF1) is a gene in humans that is located on chromosome 17.[5][6][7] NF1 codes for neurofibromin, a GTPase-activating protein that negatively regulates RAS/MAPK pathway activity by accelerating the hydrolysis of Ras-bound GTP.[5][6][8] NF1 has a high mutation rate and mutations in NF1 can alter cellular growth control, and neural development, resulting in neurofibromatosis type 1 (NF1, also known as von Recklinghausen syndrome).[5][6] Symptoms of NF1 include disfiguring cutaneous neurofibromas (CNF), café au lait pigment spots, plexiform neurofibromas (PN), skeletal defects, optic nerve gliomas, life-threatening malignant peripheral nerve sheath tumors (MPNST), pheochromocytoma, attention deficits, learning deficits and other cognitive disabilities.[5][6][9]