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NBNnibrin |
Known also as: ATV; NBS; P95; NBS1; AT-V1; AT-V2; FLJ10155; MGC87362;
| NCBI Gene ID: | 4683 |
| NCBI Ensembl Id: | ENSG00000104320 |
| MIM Id: (from NCBI OMIM database) | 602667 |
| Species: | Homo sapiens |
| 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] |
Gene sequence:
| [Download sequence] |
Proteins coded by this gene:
Diseases related to this gene:
References:
| Authors | Title | Journal |
| Varon R, Vissinga C, Platzer M, Cerosaletti KM, Chrzanowska KH, Saar K, Beckmann G, Seemanova E, Cooper PR, Nowak NJ, Stumm M, Weemaes CM, Gatti RA, Wilson RK, Digweed M, Rosenthal A, Sperling K, Concannon P, Reis A | Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. | Cell May 1, 1998 |
| Carney JP, Maser RS, Olivares H, Davis EM, Le Beau M, Yates JR 3rd, Hays L, Morgan WF, Petrini JH | The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response. | Cell May 1, 1998 |
| Maser RS, Mirzoeva OK, Wells J, Olivares H, Williams BR, Zinkel RA, Farnham PJ, Petrini JH | Mre11 complex and DNA replication: linkage to E2F and sites of DNA synthesis. | Mol Cell Biol Sept. 1, 2001 |
| Stewart GS, Wang B, Bignell CR, Taylor AM, Elledge SJ | MDC1 is a mediator of the mammalian DNA damage checkpoint. | Nature Jan. 27, 2003 |
| Lee JH, Paull TT | ATM activation by DNA double-strand breaks through the Mre11-Rad50-Nbs1 complex. | Science April 22, 2005 |
Last modification of this entry: Oct. 6, 2010.
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