Entrez gene ID | | 1642 |
Official gene symbol | | DDB1 |
Full name | | damage-specific DNA binding protein 1, 127kDa |
Aliases | | ,DDBA,UV-DDB1,XAP1,XPCE,XPE,XPE-BF, |
Gene summary | | 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] |
Location | | Chromosome: 11 Locus: 11q12-q13 |
Gene position | | 61100666 - 61066919 Map Viewer |
Gene orientation | | minus |
Gene size | | 33748 bp |
Gene sequence |
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OMIM ID | | 600045 |
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