菜单 基因医生

这个基因编码的蛋白质是异二聚体dna损伤结合（ddb）复合物的大亚基（p127），而另一个蛋白质（p48）形成小亚基。这种蛋白复合物在核苷酸切除修复中起作用，并在紫外线损伤后与DNA结合这种复合物的活性缺陷导致色素性干皮病互补组（xpe）患者的修复缺陷，xpe是一种常染色体隐性遗传疾病，以光敏性和早期癌症为特征。然而，突变分析仍然需要证明xpe患者的缺陷是在这个基因中，还是在编码这个小亚单位的基因中。此外，最佳卵黄型mascular dystrophy在11q被定位到与该基因相同的区域，但在最佳疾病患者中未显示该基因的序列改变该基因编码的蛋白质也作为cullin 4（CUL4）泛素E3连接酶复合物的衔接分子，通过促进底物与该复合物的结合和蛋白质的泛素化而发挥作用[由RefSeq提供，2012年5月]
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]