基因名称：ERCC2 （ERCC excision repair 2, TFIIH core complex helicase subunit）
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
简介：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.
ERCC2突变与药物：
K751Q
药物：
卡铂 顺铂 紫杉醇 疾病：
非小细胞肺癌 骨肉瘤
