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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for DDB1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID1642
Official gene symbolDDB1
Full namedamage-specific DNA binding protein 1, 127kDa
Aliases,DDBA,UV-DDB1,XAP1,XPCE,XPE,XPE-BF,
Gene summaryThis 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]
LocationChromosome: 11   Locus: 11q12-q13
Gene position61100666 - 61066919  Map Viewer
Gene orientationminus
Gene size33748 bp
Gene sequence
OMIM ID600045