ERCC2
Excision repair cross-complementing rodent repair deficiency, complementation group 2 | |||||||||||||
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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 | ||||||||||||
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RNA表达模式 | |||||||||||||
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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] | |||||||||||
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ERCC2 或 XPD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
. PMID 7825573. 引文格式1维护:显式使用等标签 (link)
- 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.
外部链接
- GeneReviews/NIH/NCBI/UW entry on Xeroderma Pigmentosum(页面存档备份,存于互联网档案馆)
- 醫學主題詞表(MeSH):ERCC2+Protein
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