ERCC2

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List of terms related to ERCC2

ERCC2, or XPD is a protein involved in transcription-coupled nucleotide excision repair.

The XPD (ERCC2) gene encodes for a 2.3-kb mRNA containing 22 exons and 21 introns. The XPD protein is a 760 amino acids polypeptide with a size of 87kDa. Defects in this gene can result in three different disorders: the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome.

Just like XPB, XPD is also a part of human transcriptional initiation factor TFIIH and has ATP-dependent helicase activity. It belongs to the RAD3/XPD subfamily of helicases.

XPD is essential for the viability of cells. Deletion of XPD in mice is embryonic lethal.

See also

• Excision repair cross-complementing

Further reading

• Broughton BC, Thompson AF, Harcourt SA; et al. (1995). "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. 56 (1): 167–74. PMID 7825573.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Jeang KT (1998). "Tat, Tat-associated kinase, and transcription". J. Biomed. Sci. 5 (1): 24–7. PMID 9570510.
• Yankulov K, Bentley D (1998). "Transcriptional control: Tat cofactors and transcriptional elongation". Curr. Biol. 8 (13): R447–9. PMID 9651670.
• Cleaver JE, Thompson LH, Richardson AS, States JC (1999). "A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy". Hum. Mutat. 14 (1): 9–22. doi:10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6. PMID 10447254. CS1 maint: Multiple names: authors list (link)
• Lehmann AR (2001). "The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases". Genes Dev. 15 (1): 15–23. PMID 11156600.
• Benhamou S, Sarasin A (2003). "ERCC2/XPD gene polymorphisms and cancer risk". Mutagenesis. 17 (6): 463–9. PMID 12435843.
• Clarkson SG, Wood RD (2006). "Polymorphisms in the human XPD (ERCC2) gene, DNA repair capacity and cancer susceptibility: an appraisal". DNA Repair (Amst.). 4 (10): 1068–74. doi:10.1016/j.dnarep.2005.07.001. PMID 16054878.

External links

• ERCC2+Protein at the US National Library of Medicine Medical Subject Headings (MeSH)