Entrez gene ID | | 1643 |
Official gene symbol | | DDB2 |
Full name | | damage-specific DNA binding protein 2, 48kDa |
Aliases | | ,DDBB,FLJ34321,UV-DDB2, |
Gene summary | | 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] |
Location | | Chromosome: 11 Locus: 11p12-p11 |
Gene position | | 47236493 - 47260769 Map Viewer |
Gene orientation | | plus |
Gene size | | 24277 bp |
Gene sequence |
| |
OMIM ID | | 600811 |
|