Mutations in NBN 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.蛋白别名为：NBN; NBS; NBS1; P95; Nibrin; Cell cycle regulatory protein p95; Nijmegen breakage syndrome protein 1;基因ID为：4683；蛋白质ID:O60934
应用类型
WB，ELISA补充：最优的抗体稀释比例需要基于客户实验进行优化.建议的起始稀释比例如下: WB: 1:500-1:2000, ELISA: 1:5000. Not yet tested in other applications.
免疫原
合成多肽：human Nibrin around the phosphorylation site of S343.
