菜单 基因医生

该基因编码一种参与同源重组、端粒长度维持和DNA双链断裂修复的核蛋白。该蛋白本身具有3’到5’的核酸外切酶活性和核酸内切酶活性。该蛋白与RAD50同系物形成复合物;该复合物是DNA末端非同源连接所必需的,具有增加的单链DNA内切酶和3’到5’的外切酶活性。该蛋白与DNA连接酶结合,在体外利用靠近DNA片段末端的短同源性促进非完全末端的连接。这个基因在3号染色体上有一个假基因。该基因的选择性剪接导致编码不同亚型的两个转录变体。
This gene encodes a nuclear protein involved in homologous recombination, telomere length maintenance, and DNA double-strand break repair. By itself, the protein has 3' to 5' exonuclease activity and endonuclease activity. The protein forms a complex with the RAD50 homolog; this complex is required for nonhomologous joining of DNA ends and possesses increased single-stranded DNA endonuclease and 3' to 5' exonuclease activities. In conjunction with a DNA ligase, this protein promotes the joining of noncomplementary ends in vitro using short homologies near the ends of the DNA fragments. This gene has a pseudogene on chromosome 3. Alternative splicing of this gene results in two transcript variants encoding different isoforms.

基因名:MRE11A
别名:ATLD,HNGS1,MRE11,MRE11B
基因ID:4361
Chromosome:
(GRCh37)
11 Start: 94152895 End: 94227074 Strand: -1
信号通路: 细胞周期 
靶向药: 他拉唑帕尼  奥拉帕利 
化疗药:
MRE11A 基因突变与药物