NFl是抑癌基因，编码蛋白是一种GTP酶，作为HRAS，KRAS和NRAS小GTP酶的活化蛋白（GAP）。 当与RAS结合时，NF1蛋白稳定RAS蛋白的GTP酶活性，将RAS从其活性的GTP结合状态转换为无活性的GDP结合状态。GAP相关结构域（GRD）是NF1的催化结构域，直接负责其GAP活性。 由于NF1失活会激活下游信号通路，如MAPK / ERK途径和PI3K途径。目前并未发现NF1存在热点突变。NF1胚系突变与肿瘤易感综合征-神经纤维瘤病1型的发生有关，并且在乳腺癌，黑素瘤和神经胶质瘤等多种肿瘤类型中发现体细胞改变和胚系突变。

The NF1 gene encodes a GTPase activating protein (GAP) for the small GTPases HRAS, KRAS and NRAS. When bound to RAS, the NF1 protein stabilizes the GTPase activity of the RAS proteins, which switches RAS from its active, GTP-bound state to its inactive, GDP-bound state. The GAP-related domain (GRD) is the catalytic domain of NF1, which is directly responsible for its GAP activity but only encompasses approximately 10% of the protein. NF1 is congenitally altered in the cancer-predisposing syndrome Neurofibromatosis Type 1 and is somatically altered in many tumor types including breast cancer, melanoma, and glioma.

GeneCards OncoKB My Cancer Genome