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. [provided by RefSeq, Jul 2008]
Pathway
Assembly of the RAD50-MRE11-NBS1 complex at DNA double-strand breaks; BARD1 signaling events; BRCA1-associated genome surveillance complex (BASC); Cell Cycle; Cellular Senescence; Cellular responses to stress; Cytosolic sensors of pathogen-associated DNA; DNA Damage/Telomere Stress Induced Senescence
Citations
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