DDBA antibody, UV-DDB1 antibody, XAP1 antibody, XPCE antibody, XPE antibody, XPE-BF antibody, DDB1 antibody, xpe antibody, ddba antibody, xap1 antibody, xpce antibody, xpe-bf antibody, uv-ddb1 antibody, ddb1 antibody, 127kDa antibody, AA408517 antibody, p127-Ddb1 antibody, damage specific DNA binding protein 1 antibody, damage-specific DNA binding protein 1, 127kDa antibody, DNA damage-binding protein 1 antibody, damage-specific DNA binding protein 1 antibody, DDB1 antibody, ddb1 antibody, LOC100187356 antibody, Ddb1 antibody, ddb-1 antibody
Background
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]