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
背景
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.,DDB1,DDBA,UV-DDB1,XAP1,XPCE,XPE,XPE-BF,Epigenetics & Nuclear Signaling,DNA Damage & Repair,Cancer,Signal Transduction,Cell Biology & Developmental Biology,Ubiquitin,Ubiquitin-Proteasome Signaling Pathway,Endocrine & Metabolism,Carbohydrate metabolism,Neuroscience,Neurodegenerative Diseases,Amyloid Plaque and Neurofibrillary Tangle Formation in Alzheimer's Disease,DDB1