Neurofibromin 1

Neurofibromin is a large and multifunctional protein encoded by the tumor suppressor gene NF1, mutations of which cause the tumor predisposition syndrome neurofibromatosis type 1 (NF1). Neurofibromin-1 acts as a regulator of the RAS signal transduction pathway. Studies of the structure, interaction partners and functions of neurofibromin have shown that it is involved in multiple cell signaling pathways, including the RAS/MAPK, Akt/mTOR, ROCK/LIMK/cofilin and cAMP/PKA pathways, and regulates many fundamental cellular processes, such as proliferation and migration, cytoskeletal dynamics, neurite outgrowth, dendritic spine density and dopamine levels (Bergoug M et al. 2020).

Neurofibromin is produced in many cells, including nerve cells, oligodendrocytes and Schwann cells. Mutations in the NF1 gene lead to the production of a non-functional version of neurofibromin, resulting in increased ras signaling (Mo J et al. 2022).

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