NBN Polyclonal Antibody

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.

AT V1, AT V2, ATV, Cell cycle regulatory protein p95, FLJ10155, MGC87362, Nbn, NBN, NBS 1, NBS, NBS1, Nibrin, Nijmegen breakage syndrome 1 (nibrin), Nijmegen breakage syndrome, Nijmegen breakage syndrome protein 1, p95, p95 protein of the MRE11/RAD50 complex