{"symbol":"NBN","synonyms":["AT-V1","ATV","NBS","NBS1","AT-V2","P95"],"name":"nibrin","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, Jul 2008]","ncbiEntrezGeneId":4683,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/4683","proteins":[{"symbol":"NBN_HUMAN","href":"/api/1.0/protein/NBN_HUMAN"}],"hgncRootFamilies":[]}