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XPAxeroderma pigmentosum, complementation group A |
Known also as: XP1; XPAC;
| NCBI Gene ID: | 7507 |
| NCBI Ensembl Id: | ENSG00000136936 |
| MIM Id: (from NCBI OMIM database) | 611153 |
| Species: | Homo sapiens |
| This gene encodes a zinc finger protein involved in DNA excision repair. The encoded protein is part of the NER (nucleotide excision repair) complext which is responsible for repair of UV radiation-induced photoproducts and DNA adducts induced by chemical carcinogens. Mutations in this gene are associated with xeroderma pigmentosum complementation group A. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] |
Gene sequence:
| [Download sequence] |
Proteins coded by this gene:
Diseases related to this gene:
References:
| Authors | Title | Journal |
| Miyamoto I, Miura N, Niwa H, Miyazaki J, Tanaka K | Mutational analysis of the structure and function of the xeroderma pigmentosum group A complementing protein. Identification of essential domains for nuclear localization and DNA excision repair. | J Biol Chem June 15, 1992 |
| Park CH, Sancar A | Formation of a ternary complex by human XPA, ERCC1, and ERCC4(XPF) excision repair proteins. | Proc Natl Acad Sci U S A May 24, 1994 |
| Lindahl T, Wood RD | Quality control by DNA repair. | Science Dec. 3, 1999 |
| Tripsianes K, Folkers GE, Zheng C, Das D, Grinstead JS, Kaptein R, Boelens R | Analysis of the XPA and ssDNA-binding surfaces on the central domain of human ERCC1 reveals evidence for subfunctionalization. | Nucleic Acids Res Jan. 1, 2007 |
Last modification of this entry: Oct. 6, 2010.
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