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Gene : DDB1 Homo sapiens

Name  ? damage specific DNA binding protein 1 Cytological Location  11q12.2
Brief Description  damage specific DNA binding protein 1
Description  The protein encoded by this gene is the large subunit (p127) of the heterodimeric DNA damage-binding (DDB) complex while another protein (p48) forms the small subunit. This protein complex functions in nucleotide-excision repair and binds to DNA following UV damage. Defective activity of this complex causes the repair defect in patients with xeroderma pigmentosum complementation group E (XPE) - an autosomal recessive disorder characterized by photosensitivity and early onset of carcinomas. 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. The protein encoded by this gene also functions as an adaptor molecule for the cullin 4 (CUL4) ubiquitin E3 ligase complex by facilitating the binding of substrates to this complex and the ubiquitination of proteins. [provided by RefSeq, May 2012]
  • synonyms:
  • HGNC:2717,
  • OTTHUMG00000168209,
  • XPE,
  • AJ002955,
  • DDBA,
  • damage-specific DNA binding protein 1 (127kD),
  • XPCE,
  • XPE-BF,
  • XAP1,
  • UV-DDB1,
  • NM_001923,
  • DDB1,
  • uc001nrc.6
  • identifiers:
  • 1642,
  • ENSG00000167986,
  • DDB1

Genome feature

Region: gene ? Length: 33655  
Location: 11:61299451-61333105 reverse strand Cyto location: 11q12.2


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104 SN Ps

5 Cross References

17 Data Sets

5 Homologues

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97 Rna Seq Results