Recombinant fragment corresponding to a region within amino acids 749 and 1140 of DDB1 (Uniprot IDQ16531)
Alternative Names:
XPE, DDBA, XAP1, XPCE, XPE-BF, UV-DDB1
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]
