RAS and beyond: the many faces of the neurofibromatosis type 1 protein.

Corina Anastasaki, Paola Orozco, David H Gutmann

Disease models & mechanisms 2022 Feb 01

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Neurofibromatosis type 1 is a rare neurogenetic syndrome, characterized by pigmentary abnormalities, learning and social deficits, and a predisposition for benign and malignant tumor formation caused by germline mutations in the NF1 gene. With the cloning of the NF1 gene and the recognition that the encoded protein, neurofibromin, largely functions as a negative regulator of RAS activity, attention has mainly focused on RAS and canonical RAS effector pathway signaling relevant to disease pathogenesis and treatment. However, as neurofibromin is a large cytoplasmic protein the RAS regulatory domain of which occupies only 10% of its entire coding sequence, both canonical and non-canonical RAS pathway modulation, as well as the existence of potential non-RAS functions, are becoming apparent. In this Special article, we discuss our current understanding of neurofibromin function. © 2022. Published by The Company of Biologists Ltd.

Citation

Corina Anastasaki, Paola Orozco, David H Gutmann. RAS and beyond: the many faces of the neurofibromatosis type 1 protein. Disease models & mechanisms. 2022 Feb 01;15(2)