NF1 is a RAS GAP that stimulates the intrinsic RAS GTPase activity, thereby shifting the RAS pathway towards the inactive state (reviewed in King et al, 2013). Loss-of-function mutations in NF1 have been identified both in germline diseases like neurofibromatosis 1 and in a range of sporadically occurring cancers. These mutations, which range from complete gene deletions to missense or frameshift mutations, generally decrease NF1 protein levels and abrogate RAS GAP activity in the cells, resulting in constitutive RAS pathway activation (reviewed in Maertens and Cichowski, 2014; Tidyman and Rauen, 2009; Ratner and Miller, 2015).
Tidyman, WE, Rauen, KA
Lapinski, PE, Lubeck, BA, King, PD
Cichowski, K, Maertens, O
Miller, SJ, Ratner, N
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