ERCC3

该基因编码一种atp依赖的dna螺旋酶，在核苷酸切除修复中发挥作用。编码蛋白是基础转录因子2（tfiih）的一个亚单位，因此也在ii类转录中起作用。该基因突变与着色性干皮病B、Cockayne综合征和毛发硫营养不良有关。选择性剪接导致多个转录变体。[由RefSeq提供，2014年12月]
This gene encodes an ATP-dependent DNA helicase that functions in nucleotide excision repair. The encoded protein is a subunit of basal transcription factor 2 (TFIIH) and, therefore, also functions in class II transcription. Mutations in this gene are associated with Xeroderma pigmentosum B, Cockayne's syndrome, and trichothiodystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]