ERCC2

Excision repair cross-complementing rodent repair deficiency, complementation group 2
标识
代号 ERCC2; COFS2; EM9; TTD; XPD
扩展标识 遗传学126340 鼠基因95413 同源基因344 GeneCards: ERCC2 Gene
EC編號 3.6.4.12
RNA表达模式
更多表达数据
直系同源体
物种 人类 小鼠
Entrez 2068 13871
Ensembl ENSG00000104884 ENSMUSG00000030400
UniProt P18074 O08811
mRNA序列 NM_000400 NM_007949
蛋白序列 NP_000391 NP_031975
基因位置 Chr 19:
45.85 – 45.87 Mb
Chr 7:
19.38 – 19.4 Mb
PubMed查询 [1] [2]

ERCC2XPD是一种涉及转录偶联核苷酸切除修复的蛋白质。

参考文献

延伸阅读

  • Broughton BC, Thompson AF, Harcourt SA; et al. Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome.. Am. J. Hum. Genet. 1995, 56 (1): 167–74. PMC 1801309可免费查阅. PMID 7825573. 
  • Jeang KT. Tat, Tat-associated kinase, and transcription.. J. Biomed. Sci. 1998, 5 (1): 24–7. PMID 9570510. doi:10.1007/BF02253352. 
  • Yankulov K, Bentley D. Transcriptional control: Tat cofactors and transcriptional elongation.. Curr. Biol. 1998, 8 (13): R447–9. PMID 9651670. doi:10.1016/S0960-9822(98)70289-1. 
  • Cleaver JE, Thompson LH, Richardson AS, States JC. A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.. Hum. Mutat. 1999, 14 (1): 9–22. PMID 10447254. doi:10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6. 
  • Lehmann AR. The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases.. Genes Dev. 2001, 15 (1): 15–23. PMID 11156600. doi:10.1101/gad.859501. 
  • Benhamou S, Sarasin A. ERCC2/XPD gene polymorphisms and cancer risk.. Mutagenesis. 2003, 17 (6): 463–9. PMID 12435843. doi:10.1093/mutage/17.6.463. 
  • Clarkson SG, Wood RD. Polymorphisms in the human XPD (ERCC2) gene, DNA repair capacity and cancer susceptibility: an appraisal.. DNA Repair (Amst.). 2006, 4 (10): 1068–74. PMID 16054878. doi:10.1016/j.dnarep.2005.07.001. 

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