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]

别名

XPB,BTF2,TTD2,GTF2H,RAD25,TFIIH

基因id

Chromosome:2 Start: 128014866 End: 128051752 Strand: 

药物

突变与药物

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