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NHEJ1nonhomologous end-joining factor 1 |
Known also as: XLF; FLJ12610;
| NCBI Gene ID: | 79840 |
| NCBI Ensembl Id: | ENSG00000187736 |
| MIM Id: (from NCBI OMIM database) | 611290 |
| Species: | Homo sapiens |
| Double-strand breaks in DNA result from genotoxic stresses and are among the most damaging of DNA lesions. This gene encodes a DNA repair factor essential for the nonhomologous end-joining pathway, which preferentially mediates repair of double-stranded breaks. Mutations in this gene cause different kinds of severe combined immunodeficiency disorders. [provided by RefSeq] |
Gene sequence:
| [Download sequence] |
Proteins coded by this gene:
Diseases related to this gene:
References:
| Authors | Title | Journal |
| Buck D, Malivert L, de Chasseval R, Barraud A, Fondaneche MC, Sanal O, Plebani A, Stephan JL, Hufnagel M, le Deist F, Fischer A, Durandy A, de Villartay JP, Revy P | Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. | Cell Feb. 27, 2006 |
| Ahnesorg P, Smith P, Jackson SP | XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining. | Cell Feb. 27, 2006 |
Last modification of this entry: Oct. 6, 2010.
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