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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

GTF2H5  -  general transcription factor IIH,...

Homo sapiens

Synonyms: C6orf175, FLJ30544, General transcription factor IIH polypeptide 5, General transcription factor IIH subunit 5, TFB5, ...
 
 
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High impact information on GTF2H5

  • The identification of a new evolutionarily conserved subunit of TFIIH implicated in TTD-A provides insight into TFIIH function in transcription, DNA repair and human disease [1].
  • Thus, the phenotype of TTD-A appears to result from sublimiting amounts of TFIIH, probably due to a mutation in a gene determining the complex stability [2].
  • Rarely, mutated XPB gene or an unidentified TTD-A gene may result in TTD [3].
  • The gene responsible for the TTD-A group of the DNA repair deficient disease trichothiodystrophy has been identified as a small, 8 kDa, component of the transcription factor TFIIH which contributes to the stability and concentration of TFIIH in vivo [4].

References

  1. A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A. Giglia-Mari, G., Coin, F., Ranish, J.A., Hoogstraten, D., Theil, A., Wijgers, N., Jaspers, N.G., Raams, A., Argentini, M., van der Spek, P.J., Botta, E., Stefanini, M., Egly, J.M., Aebersold, R., Hoeijmakers, J.H., Vermeulen, W. Nat. Genet. (2004) [Pubmed]
  2. Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder. Vermeulen, W., Bergmann, E., Auriol, J., Rademakers, S., Frit, P., Appeldoorn, E., Hoeijmakers, J.H., Egly, J.M. Nat. Genet. (2000) [Pubmed]
  3. Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes. Itin, P.H., Sarasin, A., Pittelkow, M.R. J. Am. Acad. Dermatol. (2001) [Pubmed]
  4. Splitting hairs--discovery of a new DNA repair and transcription factor for the human disease trichothiodystrophy. Cleaver, J.E. DNA Repair (Amst.) (2005) [Pubmed]
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