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]
The human NBN gene is shown in the context of the human genome below. To see information about the NBN gene in other species, please use the Search Tool to select your desired species. GenScript has in-stock ORF clones for mouse NBN, rat NBN, and human NBN, as well as on-demand NBN ORF clones in 183 other species.
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