nibrin(NBN) Homo sapiens 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],
应用类型
WB
免疫原
The antiserum was produced against synthesized peptide derived from human p95/NBS1 around the phosphorylation site of Ser343. AA range:310-359
