基因名称：NBN （nibrin）
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：
简介：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.
NBN突变与药物：
LOSS
药物：
GPI-15427 疾病：
头颈癌
