检测编号：GS1000607

服务项目

境象生物为您提供NF2基因的突变检测服务。

样本要求

唾液（2ml以上）、全血（2ml以上）

服务周期

合同签订后30个工作日。

报告结果

服务报告包含检测基因、检出位点、基因型、是否发生突变、突变等位基因频率等结果。

检测方法

测序法

基因信息

基因名称	基因全名	基因位置	外显子个数	CDS长度
NF2	neurofibromin 2 (merlin)	22q12.2	17	约6074 bp
基因摘要	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. [provided by RefSeq, Jul 2008].

相关文献

1. Crompton BD et al, The Genomic Landscape of Pediatric Ewing Sarcoma., Cancer discovery, 2014, PubMed Link
2. Giannakis M et al, RNF43 is frequently mutated in colorectal and endometrial cancers., Nature genetics;46(12):1264-6, 2014, PubMed Link
3. Martin D et al, The head and neck cancer cell oncogenome: A platform for the development of precision molecular therapies., Oncotarget, 2014, PubMed Link
4. Mouradov D et al, Colorectal cancer cell lines are representative models of the main molecular subtypes of primary cancer., Cancer research;74(12):3238-47, 2014, PubMed Link
5. Pickering CR et al, Mutational landscape of aggressive cutaneous squamous cell carcinoma., Clinical cancer research : an official journal of the American Association for Cancer Research, 2014, PubMed Link