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.

基因名:NF1
别名:NFNS,VRNF,WSS
基因ID:4763
Chromosome:
(GRCh37)
17 Start: 29421945 End: 29709134 Strand: 1
信号通路: 细胞增殖  遗传相关 
靶向药: AZ628  Binimetinib  达拉非尼  JQ1 Compound PD0325901  西罗莫司  司美替尼  曲美替尼  维莫非尼  VX-11e 
化疗药: