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.
Immunogen Information
Immunogen
Synthetic peptide of human NBN
Swissprot
O60934
Synonyms
AT V1AT V2ATVCell cycle regulatory protein p95FLJ10155MGC87362NbnNBNNBS 1NBSNBS1NibrinNijmegen breakage syndrome 1 (nibrin)Nijmegen breakage syndromeNijmegen breakage syndrome protein 1p95p95 protein of the MRE11/RAD50 complex
Gene Accession
NP_002476
Applications
Reactivity
Human,Mouse,Rat
Tested Applications
IHC,ELISA
Conjugation
Unconjugated
Dilution
IHC 1:25-1:100
Concentration
0.5 mg/mL
Storage Buffer
PBS with 0.05% sodium azide and 50% glycerol, PH7.4