别名：AT-V1; AT-V2; ATV; NBS; NBS1; P95

产品概述：NBN (p95 NBS1 ) mouse monoclonal antibody, clone LBI5A6

总结：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]