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.蛋白別名為：NBN; NBS; NBS1; P95; Nibrin; Cell cycle regulatory protein p95; Nijmegen breakage syndrome protein 1;基因ID為：4683；蛋白質ID:O60934
應用類型
WB，ELISA補充：最優的抗體稀釋比例需要基于客戶實驗進行優化.建議的起始稀釋比例如下: 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.
