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ERCC2

excision repair cross-complementing rodent repair deficiency, complementation group 2

On chromosome: 19q13.3
Known also as: EM9; TTD; XPD; COFS2; MGC102762; MGC126218; MGC126219;


NCBI Gene ID: 2068
NCBI Ensembl Id: ENSG00000104884
MIM Id: (from NCBI OMIM database) 126340
Species: Homo sapiens

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. [provided by RefSeq]


Gene sequence:
[Download sequence]

Proteins coded by this gene:
Diseases related to this gene:
References:

Authors Title Journal
Hwang JR, Moncollin V, Vermeulen W, Seroz T, van Vuuren H, Hoeijmakers JH, Egly JM A 3' --> 5' XPB helicase defect in repair/transcription factor TFIIH of xeroderma pigmentosum group B affects both DNA repair and transcription. J Biol Chem July 5, 1996
Kershnar E, Wu SY, Chiang CM Immunoaffinity purification and functional characterization of human transcription factor IIH and RNA polymerase II from clonal cell lines that conditionally express epitope-tagged subunits of the multiprotein complexes. J Biol Chem Dec. 18, 1998
Busso D, Keriel A, Sandrock B, Poterszman A, Gileadi O, Egly JM Distinct regions of MAT1 regulate cdk7 kinase and TFIIH transcription activities. J Biol Chem July 28, 2000
Sandrock B, Egly JM A yeast four-hybrid system identifies Cdk-activating kinase as a regulator of the XPD helicase, a subunit of transcription factor IIH. J Biol Chem Sept. 21, 2001

Last modification of this entry: Oct. 6, 2010.

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