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.


![[KO Validated] NBS1/NBN Rabbit pAb](https://advatechgroup.com/wp-content/uploads/xabclonal-logo-1.webp.pagespeed.ic.LySEJwhWOg.webp)