基因名:
RAD50
产品别名:
NBSLD; RAD502; hRad50; RAD50; RAD50 double strand break repair protein; RAD50 double strand break repair protein; DNA repair protein RAD50; RAD50 homolog, double strand break repair protein; DNA修复蛋白Rad50; DNA修复蛋白RAD50(RAD50);
背景信息:
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.