该基因编码的蛋白质与酿酒酵母RAD50非常相似,后者是一种参与DNA双链断裂修复的蛋白质。这种蛋白与MRE11和NBS1形成复合物。这种蛋白复合物与DNA结合,并表现出DNA末端非同源连接所需的许多酶活性。这种蛋白与它的伙伴合作,对DNA双链断裂修复、细胞周期检查点激活、端粒维持和减数分裂重组很重要。对小鼠同系物的敲除研究表明,该基因对细胞生长和生存至关重要。这种基因的突变是导致奈梅根断裂综合征样疾病的原因。
The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protein complex binds to DNA and displays numerous enzymatic activities that are required for nonhomologous joining of DNA ends. This protein, cooperating with its partners, is important for DNA double-strand break repair, cell cycle checkpoint activation, telomere maintenance, and meiotic recombination. Knockout studies of the mouse homolog suggest this gene is essential for cell growth and viability. Mutations in this gene are the cause of Nijmegen breakage syndrome-like disorder.

基因名:RAD50
别名:NBSLD,RAD502,hRad50
基因ID:10111
Chromosome:
(GRCh37)
5 Start: 131891711 End: 131980313 Strand: 1
信号通路: 细胞周期  基因组不稳定 
靶向药: AZD7762 
化疗药: 伊立替康