Peptide sequence around aa.341~345 (S-L-S-Q-G) derived from Human p95/NBS1.
Alternative Names:
NBN
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.
