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ddb1

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Official Full Name
damage-specific DNA binding protein 1, 127kDa
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.
Synonyms
Damage specific DNA binding protein 1; Damage-specific DNA-binding protein 1; DDB 1; DDB p127 subunit; Ddb1; DDB1_HUMAN; DDBa; DNA damage binding protein 1; DNA damage-binding protein 1; DNA damage-binding protein a; HBV X-associated protein 1; UV damaged DNA binding factor; UV-damaged DNA-binding protein 1; UV DDB 1; UV DDB1; UV-damaged DNA-binding factor; X associated protein 1; XAP 1; XAP-1; XAP1; Xeroderma pigmentosum group E complementing protein; Xeroderma pigmentosum group E-complementing protein; XPCE; XPE; XPE BF; XPE binding factor; XPE-binding factor; damage-specific DNA binding protein 1, 127kDa; damage-specific DNA binding protein 1; zgc:63840