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Description
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. [provided by RefSeq
Specifications
Specifications
| Antigen | NBN |
| Applications | ELISA, Western Blot |
| Classification | Monoclonal |
| Clone | 2C7 |
| Conjugate | Unconjugated |
| Description | Mouse monoclonal antibody raised against a partial recombinant NBN. |
| Formulation | PBS with no preservative; pH 7.4 |
| Gene | NBN |
| Gene Accession No. | NM_002485 |
| Gene Alias | AT-V1/AT-V2/ATV/FLJ10155/MGC87362/NBS/NBS1/P95 |
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