__NOTOC__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. [cite web | title = Entrez Gene: ERCC2 excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2068| accessdate = ]
Just like XPB, XPD is also a part of human transcriptional initiation factor TFIIH and has ATP-dependent helicase activity.[cite journal | author = Lee TI, Young RA | title = Transcription of eukaryotic protein-coding genes | journal = Annu. Rev. Genet. | volume = 34 | issue = | pages = 77–137 | year = 2000 | pmid = 11092823 | doi = 10.1146/annurev.genet.34.1.77] 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.
ee also
*Excision repair cross-complementing
References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Broughton BC, Thompson AF, Harcourt SA, "et al." |title=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. |journal=Am. J. Hum. Genet. |volume=56 |issue= 1 |pages= 167–74 |year= 1995 |pmid= 7825573 |doi=
*cite journal | author=Jeang KT |title=Tat, Tat-associated kinase, and transcription. |journal=J. Biomed. Sci. |volume=5 |issue= 1 |pages= 24–7 |year= 1998 |pmid= 9570510 |doi=
*cite journal | author=Yankulov K, Bentley D |title=Transcriptional control: Tat cofactors and transcriptional elongation. |journal=Curr. Biol. |volume=8 |issue= 13 |pages= R447–9 |year= 1998 |pmid= 9651670 |doi=
*cite journal | author=Cleaver JE, Thompson LH, Richardson AS, States JC |title=A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. |journal=Hum. Mutat. |volume=14 |issue= 1 |pages= 9–22 |year= 1999 |pmid= 10447254 |doi= 10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6 |doilabel=10.1002/(SICI)1098-1004(1999)14:19::AID-HUMU23.0.CO;2-6
*cite journal | author=Lehmann AR |title=The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases. |journal=Genes Dev. |volume=15 |issue= 1 |pages= 15–23 |year= 2001 |pmid= 11156600 |doi=
*cite journal | author=Benhamou S, Sarasin A |title=ERCC2/XPD gene polymorphisms and cancer risk. |journal=Mutagenesis |volume=17 |issue= 6 |pages= 463–9 |year= 2003 |pmid= 12435843 |doi=
*cite journal | author=Clarkson SG, Wood RD |title=Polymorphisms in the human XPD (ERCC2) gene, DNA repair capacity and cancer susceptibility: an appraisal. |journal=DNA Repair (Amst.) |volume=4 |issue= 10 |pages= 1068–74 |year= 2006 |pmid= 16054878 |doi= 10.1016/j.dnarep.2005.07.001
External links
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