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Description

Neurofibromin (UniProt: P21359, also known as Neurofibromatosis-related protein NF-1) is encoded by the NF1 gene (Gene ID: 4763) in human. Neurofibromin is a GTPase-activating protein that negatively regulatres RAS/MAOK pathway by enhancing the hydrolysis of Ras-bound GTP. Hence, it can display tumor suppressor properties. Neurofibromin has been detected in brain, peripheral nerves, lung, colon, and muscle tissues. It has a CRAL-TRIO domain (aa 1580-1738) that facilitates its binding to phospholipids. It binds primarily glycerophospholipids with monounsaturated C18:1 and/or C16:1 fatty acid moieties and a phosphatidylethanolamine or phosphatidylcholine head group. Neurofibromin also has a Ras-GTP domain (aa 1235-1451). Mutations in NF1 gene are known to cause Neurofibromatosis type I that involved tumors in the peripheral nervous system and fibromatous skin tumors. Some mutations are also known to cause colorectal cancer and juvenile leukemia. Six different isoforms of Neurofibromin have been described that are produced by alternative splicing. (Ref.: Rossi, S., et al. (2018). Mod. Pathol. 31(1), 160-168).