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.1) Hsu HL, et al (2005) Oncogene; 24 (31): 4956-64. Falck J, et al. (2005) Nature; 434 (7033): 605-11. Buscemi G, et al. (2004) Oncogene; 23 (46): 7691-700. Beausoleil SA, et al. (2004) Proc Natl Acad Sci U S A; 101 (33): 12130-5.
Immunogen
p95/NBS1 (Phospho-Ser343) antibody was raised against a peptide sequence around phosphorylation site of serine 343 (S-L-S (p) -Q-G) derived from Human p95/NBS1.