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.
Aliases: ATV; NBS; P95; NBS1; AT-V1; AT-V2
Entrez GeneID: 4683
Swissprot: O60934
WB Predicted band size: 85kDa
Host/Isotype: Mouse IgG2a
Species Reactivity: Human
Immunogen: Purified recombinant fragment of human NBN (AA: 467-615) expressed in E. Coli.
