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Reactivity | Human |
Tested applications | WB |
Recommended Dilution | WB 1:500 - 1:2000 |
Calculated MW | 95kDa |
Observed MW | Refer to Figures |
Immunogen | A phospho specific peptide corresponding to residues surrounding S343 of human NBN |
Storage Buffer | Store at -20℃. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
Concentration | e |
Synonym | ATV; NBS; P95; NBS1; AT-V1; AT-V2; |
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.
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