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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. [provided by RefSeq, May 2012]
[中文简述(自动翻译):]  由该基因编码的蛋白质是异源二聚体的DNA损伤结合(DDB)复合物的大亚基(P127),而另一种蛋白质(P48)形成小亚基。核苷酸切除修复这种蛋白质复杂的功能,并与DNA结合以下紫外线的伤害。这种复杂的有缺陷的活动将导致患者的着色性干皮互补组E(XPE)修复缺陷 - 常染色体隐性遗传疾病的特点是光敏性和癌的发病初期。但是,它仍然为突变分析以证明在XPE患者缺陷是否在此基因或编码小亚基的基因。此外,最佳卵黄mascular营养不良被映射到相同的区域上11q中这个基因,但是该基因没有序列交替在最佳疾病患者证明。通过促进基片的结合这一复杂和蛋白质的泛素化还用作对于滞4(CUL4)E3泛素连接酶复合物的衔接分子由该基因编码的蛋白质。 [由RefSeq的,2012年5月提供]
DDB1基因(以及对应的蛋白质)的细胞分布位置:
DDB1基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Stomach Neoplasms | 0.12 | 1 | 0 | CTD_human |
| Disease Progression | 0.12 | 1 | 0 | CTD_human |
| Hepatitis B | 0.008444493 | 4 | 0 | BeFree_LHGDN |
| Ovarian Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Xeroderma Pigmentosum | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of ovary | 0.000542884 | 2 | 0 | BeFree |
| Malignant tumor of colon | 0.000271442 | 1 | 0 | BeFree |
| Hepatitis C | 0.000271442 | 1 | 0 | BeFree |
| Vitelliform Macular Dystrophy | 0.000271442 | 1 | 0 | BeFree |
| Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
| Liver carcinoma | 0.000271442 | 1 | 0 | BeFree |
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