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DDB1damage-specific DNA binding protein 1, 127kDa |
Known also as: XPE; DDBA; XAP1; XPCE; XPE-BF; UV-DDB1;
| NCBI Gene ID: | 1642 |
| NCBI Ensembl Id: | ENSG00000167986 |
| MIM Id: (from NCBI OMIM database) | 600045 |
| Species: | Homo sapiens |
| This gene encodes the large subunit of DNA damage-binding protein which is a heterodimer composed of a large and a small subunit. This protein functions in nucleotide-excision repair. Its defective activity causes the repair defect in the patients with xeroderma pigmentosum complementation group E (XPE). However, it remains for mutation analysis to demonstrate whether the defect in XPE patients is in this gene or the gene encoding the small subunit. In addition, Best vitelliform mascular dystrophy is mapped to the same region as this gene on 11q, but no sequence alternations of this gene are demonstrated in Best disease patients. [provided by RefSeq] |
Gene sequence:
| [Download sequence] |
Proteins coded by this gene:
References:
| Authors | Title | Journal |
| Keeney S, Chang GJ, Linn S | Characterization of a human DNA damage binding protein implicated in xeroderma pigmentosum E. | J Biol Chem Oct. 5, 1993 |
| Nichols AF, Ong P, Linn S | Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype. | J Biol Chem Oct. 4, 1996 |
| Hayes S, Shiyanov P, Chen X, Raychaudhuri P | DDB, a putative DNA repair protein, can function as a transcriptional partner of E2F1. | Mol Cell Biol Feb. 1, 1998 |
| Marini F, Nardo T, Giannattasio M, Minuzzo M, Stefanini M, Plevani P, Muzi Falconi M | DNA nucleotide excision repair-dependent signaling to checkpoint activation. | Proc Natl Acad Sci U S A Nov. 14, 2006 |
Keywords:
Last modification of this entry: Oct. 19, 2010.
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