基因名：
DDB1
产品别名：
DDBA； UV-DDB1； WHIKERS； XAP1； XPCE； XPE； XPE-BF； DDB1； damage specific DNA binding protein 1； damage specific DNA binding protein 1； DNA damage-binding protein 1； DDB p127 subunit； DNA damage-binding protein a； HBV X-associated protein 1； UV-DDB 1； UV-damaged DNA-binding factor； UV-damaged DNA-binding protein 1； XAP-1； XPE-binding factor； damage-specific DNA binding protein 1, 127kDa； xeroderma pigmentosum group E-complementing protein； DNA损伤结合蛋白1；
背景信息：
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].
