菜单 基因医生

该基因编码rad2/着色性干皮病g组核酸酶家族的一个成员,其成员具有n末端和内部着色性干皮病g组核酸酶结构域,然后是螺旋发夹螺旋结构域和无序c末端结构域。该基因编码的蛋白质参与了holliday连接的解析,holliday连接是一种中间的四向结构,在同源重组和双链断裂修复过程中共价连接dna。该蛋白通过在连接处形成双切口来分解Holliday连接,从而产生可结扎的有缺口的双联产物。此外,该蛋白被发现定位于中心体,在中心体完整性的调控中起着重要作用。选择性剪接导致多个转录变体。[由RefSeq提供,2016年7月]
This gene encodes a member of the Rad2/xeroderma pigmentosum group G nuclease family, whose members are characterized by N-terminal and internal xeroderma pigmentosum group G nuclease domains followed by helix-hairpin-helix domains and disordered C-terminal domains. The protein encoded by this gene is involved in resolution of Holliday junctions, which are intermediate four-way structures that covalently link DNA during homologous recombination and double-strand break repair. The protein resolves Holliday junctions by creating dual incisions across the junction to produce nicked duplex products that can be ligated. In addition, this protein has been found to localize to centrosomes where it has been implicated in regulation of centrosome integrity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]

基因名:GEN1
别名:Gen
基因ID:348654
Chromosome:
(GRCh37)
2 Start: 17935152 End: 17966632 Strand: 
信号通路:  
GEN1 基因突变与药物