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]
Function
contributes_to ATP-dependent DNA helicase activity; contributes_to damaged DNA binding; protein N-terminus binding; protein binding; transcription factor binding
Synonyms
NBN; nibrin; ATV; NBS; P95; NBS1; AT-V1; AT-V2; cell cycle regulatory protein p95; Nijmegen breakage syndrome 1 (nibrin); p95 protein of the MRE11/RAD50 complex
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