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ERCC4excision repair cross-complementing rodent repair deficiency, complementation group 4 |
Known also as: XPF; RAD1; ERCC11;
| NCBI Gene ID: | 2072 |
| NCBI Ensembl Id: | ENSG00000175595 |
| MIM Id: (from NCBI OMIM database) | 133520 |
| Species: | Homo sapiens |
| The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6). |
Gene sequence:
| [Download sequence] |
Proteins coded by this gene:
References:
| Authors | Title | Journal |
| Sijbers AM, de Laat WL, Ariza RR, Biggerstaff M, Wei YF, Moggs JG, Carter KC, Shell BK, Evans E, de Jong MC, Rademakers S, de Rooij J, Jaspers NG, Hoeijmakers JH, Wood RD | Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease. | Cell Sept. 6, 1996 |
| de Laat WL, Sijbers AM, Odijk H, Jaspers NG, Hoeijmakers JH | Mapping of interaction domains between human repair proteins ERCC1 and XPF. | Nucleic Acids Res Sept. 15, 1998 |
| Kumaresan KR, Hwang M, Thelen MP, Lambert MW | Contribution of XPF functional domains to the 5' and 3' incisions produced at the site of a psoralen interstrand cross-link. | Biochemistry Feb. 22, 2002 |
| Motycka TA, Bessho T, Post SM, Sung P, Tomkinson AE | Physical and functional interaction between the XPF/ERCC1 endonuclease and hRad52. | J Biol Chem April 2, 2004 |
Last modification of this entry: Oct. 6, 2010.
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