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DDB2damage-specific DNA binding protein 2, 48kDa |
Known also as: DDBB; UV-DDB2; FLJ34321;
| NCBI Gene ID: | 1643 |
| NCBI Ensembl Id: | ENSG00000134574 |
| MIM Id: (from NCBI OMIM database) | 600811 |
| Species: | Homo sapiens |
| This gene encodes a protein that is necessary for the repair of ultraviolet light-damaged DNA. This protein is the smaller subunit of a heterodimeric protein complex that participates in nucleotide excision repair, and this complex mediates the ubiquitylation of histones H3 and H4, which facilitates the cellular response to DNA damage. This subunit appears to be required for DNA binding. Mutations in this gene cause xeroderma pigmentosum complementation group E, a recessive disease that is characterized by an increased sensitivity to UV light and a high predisposition for skin cancer development, in some cases accompanied by neurological abnormalities. [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 |
| Groisman R, Polanowska J, Kuraoka I, Sawada J, Saijo M, Drapkin R, Kisselev AF, Tanaka K, Nakatani Y | The ubiquitin ligase activity in the DDB2 and CSA complexes is differentially regulated by the COP9 signalosome in response to DNA damage. | Cell May 2, 2003 |
Last modification of this entry: Oct. 6, 2010.
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