核苷酸切除修复途径是修复DNA损伤的机制。该基因编码的蛋白参与转录偶联核苷酸切除修复,是基础转录因子btf2/tfiih复合物的一个不可分割的成员。该基因产物具有ATP依赖性DNA解旋酶活性,属于解旋酶的RAD3/XPD亚家族。这种基因的缺陷可导致三种不同的疾病,即癌症易发综合征着色性干皮病互补组D、毛细胞增生症和Cockayne综合征。另外,还发现了编码不同亚型的剪接转录变体。
The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

基因名:ERCC2
别名:COFS2,EM9,TFIIH,TTD,TTD1,XPD
基因ID:2068
Chromosome:
(GRCh37)
19 Start: 45853095 End: 45874176 Strand: -1
信号通路: DNA修饰及其它  细胞周期  基因组不稳定  能量代谢 
靶向药:
化疗药: 卡铂 顺铂 紫杉醇 
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