| Gene Symbol |
NBN
|
| Gene Synonyms |
ATV NBS P95 NBS1 AT-V1 AT-V2 hNbs1 |
| Gene Full Name |
nibrin |
| Gene Summary |
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] |
| Alternative Names |
AT V1 AT V2 ATV Cell cycle regulatory protein p95 FLJ10155 MGC87362 Nbn NBN_HUMAN NBS 1 NBS NBS1 Nibrin Nijmegen breakage syndrome 1 (nibrin) Nijmegen breakage syndrome Nijmegen breakage syndrome protein 1 p95 p95 protein of the MRE11/RAD50 complex |
| Molecular Weight(MW) |
85 kDa |
| Cellular Localization |
Chromosome,Nucleus,Telomere. |