NF1(neurofibromin 1),癌症关联基因,基因ID:4763,该基因产物似乎是ras信号转导途径的负调节因子。该基因突变与1型神经纤维瘤病、少年骨髓单核细胞白血病和华生综合征有关。该基因的mRNA受到RNA编辑(cga>uga->arg1306term)的影响,导致翻译提前终止。另外,还描述了编码不同亚型的剪接转录变体。This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene.关联癌症:非小细胞肺癌,周围神经鞘恶性肿瘤,黑色素瘤,神经母细胞瘤,神经纤维瘤,丛状神经纤维瘤,皮肤黑色素瘤。关联化疗药物:AZ628,比美替尼、贝美替尼,达拉非尼,JQ1 Compound,PD0325901,替西罗莫司/坦西莫司,司美替尼,曲美替尼,维莫非尼,威罗菲尼,VX-11e。