Tissue expression
Cell line expression
Protein structure
NBN
NibrinAT-V1, AT-V2, ATV, NBS, NBS1
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, Jul 2008]
Top validated antibodies |
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| Novus Biologicals | 184 references | Polyclonal |
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| GeneTex | 5 references | Polyclonal |
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| antibodies-online | 2 references | Monoclonal |
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| LSBio | Monoclonal |
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| Proteintech Group | 14 references | Polyclonal |
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