这个基因编码的蛋白质类似于ERM(Ezrin,radixin,moesin)蛋白质家族的一些成员,这些成员被认为将细胞骨架成分与细胞膜中的蛋白质联系在一起。该基因产物与细胞表面蛋白、参与细胞骨架动力学的蛋白以及参与调节离子转运的蛋白相互作用。该基因在胚胎发育过程中高水平表达;在成人中,在雪旺细胞、脑膜细胞、晶状体和神经中有显著表达。该基因突变与Ⅱ型神经纤维瘤病有关,Ⅱ型神经纤维瘤病以神经系统、皮肤肿瘤和眼部异常为特征。两个主要亚型和一些次要亚型是通过选择性剪接转录产生的。
This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that are thought to link cytoskeletal components with proteins in the cell membrane. This gene product has been shown to interact with cell-surface proteins, proteins involved in cytoskeletal dynamics and proteins involved in regulating ion transport. This gene is expressed at high levels during embryonic development; in adults, significant expression is found in Schwann cells, meningeal cells, lens and nerve. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. Two predominant isoforms and a number of minor isoforms are produced by alternatively spliced transcripts.

基因名:NF2
别名:ACN,BANF,SCH
基因ID:4771
Chromosome:
(GRCh37)
22 Start: 29999545 End: 30094587 Strand: 1
信号通路: 肿瘤干细胞 
靶向药: 依维莫司  司美替尼  西罗莫司 
化疗药: 卡铂 顺铂 
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