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ERCC6excision repair cross-complementing rodent repair deficiency, complementation group 6 |
Known also as: CSB; CKN2; COFS; ARMD5; COFS1; RAD26;
| NCBI Gene ID: | 2074 |
| NCBI Ensembl Id: | ENSG00000225830 |
| MIM Id: (from NCBI OMIM database) | 609413 |
| Species: | Homo sapiens |
| This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The protein has ATP-stimulated ATPase activity; there are contradictory publications reporting presence or absence of helicase activity. The protein appears to interact with several transcription and excision repair proteins, and may promote complex formation at repair sites. Mutations in this gene result in Cockayne syndrome type B. [provided by RefSeq] |
Gene sequence:
| [Download sequence] |
Proteins coded by this gene:
Diseases related to this gene:
References:
| Authors | Title | Journal |
| Selby CP, Sancar A | Human transcription-repair coupling factor CSB/ERCC6 is a DNA-stimulated ATPase but is not a helicase and does not disrupt the ternary transcription complex of stalled RNA polymerase II. | J Biol Chem Feb. 17, 1997 |
| Thorslund T, von Kobbe C, Harrigan JA, Indig FE, Christiansen M, Stevnsner T, Bohr VA | Cooperation of the Cockayne syndrome group B protein and poly(ADP-ribose) polymerase 1 in the response to oxidative stress. | Mol Cell Biol Sept. 1, 2005 |
| Fousteri M, Vermeulen W, van Zeeland AA, Mullenders LH | Cockayne syndrome A and B proteins differentially regulate recruitment of chromatin remodeling and repair factors to stalled RNA polymerase II in vivo. | Mol Cell Aug. 1, 2006 |
Keywords:
Last modification of this entry: Oct. 19, 2010.
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