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)
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NBN (NP_002476, 645 a.a. ~ 754 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.