ERCC2

The TFIIH - XPD helicase is an enzyme in the nucleus of fungi and animals, which as part of the transcription factor IIH ( TFIIH ) the opening of the DNA duplex catalyzed after the pre-initiation complex was assembled. This reaction step is part of the initiation of transcription of all eukaryotic genes. In addition, XPD plays a similar role in DNA repair. Mutations in the human ERCC2 gene coding for XPD, can contribute to the rare genetic disorder xeroderma pigmentosum type D lead, in which the risk for skin cancer is greatly increased, or Tay syndrome, a rare ichthyosis, or Cockayne syndrome type 2

The opening of the double strand consumes one molecule of ATP and spans the bases from -10 to 2 relative to the Genanfangs. She is supported by untwisting of the DNA ( referred to as negative supercoiling ) using TFIIE. At the DNA repair also takes part in the XPB helicase. Open the DNA is referred to in both cases as a DNA bubble.

XPB and XPD after make a part of the defense of the cell against retroviral infection, a laboratory study. A Chinese study found that a combination of certain XPB and XPD - variants increased the risk of lung cancer.

Human Genome Organisation Adenosine triphosphate Transcription factor II E Digital Object Identifier PubMed Central
766834
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