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Official Full Name: RAD50 double strand break repair protein
Also known as: NBSLD; RAD502; hRad50
The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in the repair of DNA double-strand breaks. This protein forms a complex with MRE11 and NBS1. The protein complex binds to DNA and displays the enzymatic activity required for the joining of many non-homologous DNA ends. The protein, in cooperation with its partners, plays an important role in DNA double-strand break repair, cell cycle checkpoint activation, telomere maintenance, and meiotic recombination. Mouse homologous gene knockout studies have shown that this gene is essential for cell growth and viability. Mutations in this gene are the cause of Nijmegen breakdown syndrome-like disorder.