Mutations in p95/NBS1 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.
应用类型
WB
免疫原
Peptide sequence around phosphorylation site of serine 343 (S-L-S(p)-Q-G) derived from Human p95/NBS1.
