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]
Alternative Names
AT V1 AT V2 cell cycle regulatory protein p95 FLJ10155 MGC87362 mutated in Nijmegen Breakage syndrome Nijmegen breakage syndrome 1 (nibrin) nijmegen breakage syndrome protein 1 homolog OTTHUMP00000204088 p95 protein of the MRE11/RAD50 complex p95-NBS1 putative DNA repair protein