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NHEJ1

nonhomologous end-joining factor 1

On chromosome: 2q35
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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