Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008]
Pathway
ATM mediated phosphorylation of repair proteins; ATM mediated response to DNA double-strand break; 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
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