人 NBN (NM_002485) cDNA克隆

Accession: NM_002485
基因名称: NBN
基因别名: ATV; NBS; P95; NBS1; AT-V1; AT-V2
基因描述: Homo sapiens nibrin (NBN), mRNA.
种属: Human
CDS区长度: 2265 (查看编码区序列)
翻译后氨基酸长度: 754 (查看氨基酸序列)
产品编号 产品名称 载体 规格 价格
G152884 人 NBN (NM_002485) cDNA克隆 pDONR223 2ug质粒 点击询价

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. [provided by RefSeq, Jul 2008]