该基因突变与nijmegen破碎综合征(一种以小头畸形、生长迟缓、免疫缺陷和癌症易感性为特征的常染色体隐性染色体不稳定综合征)有关。编码蛋白是由5种蛋白质组成的MRE11/RAD50双链断裂修复复合物的成员。这种基因产物被认为与DNA双链断裂修复和DNA损伤诱导的检查点激活有关。
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.

基因名:NBN
别名:AT-V1,AT-V2,ATV,NBS,NBS1,P95
基因ID:4683
Chromosome:
(GRCh37)
8 Start: 90945564 End: 91015456 Strand: -1
信号通路: 细胞周期  基因组不稳定  遗传相关 
靶向药: GPI-15427 
化疗药: