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For Research Use Only. Not For Clinical Use.


Background

Neurofibrin 1 (NF1) is a gene on chromosome 17 in humans. NF1 encodes neurofibrin, a GTPase-activating protein that can negatively regulate the activity of the RAS/MAPK pathway by accelerating the hydrolysis of GTP bound to Ras. NF1 has a high mutation rate, and mutations in NF1 can change cell growth control and neural development, resulting in neurofibromatosis type 1 (NF1, also known as von Recklinghausen Syndrome). Symptoms of NF1 include cutaneous neurofibromatosis (CNF), brown pigmented spots, plexiform neurofibromatosis (PN), bone defects, optic nerve glioma, and life-threatening malignant peripheral nerve sheath tumor (MPNST), attention deficit, learning deficit and other cognitive disabilities.
Merlin (also known as Neurofibromin 2 or schwannomin) is a cytoskeletal protein. In humans, it is a tumor suppressor protein associated with neurofibromatosis type II. Sequence data reveals its similarity to the ERM protein family.
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