Novel tfiih subunit

Details Novel tfiih subunit Novel tfiih subunit

C - Chemistry, Metallurgy

12

N

C12N 15/12 (2006.01) A01K 67/027 (2006.01) A61K 31/7088 (2006.01) A61K 48/00 (2006.01) C07H 21/00 (2006.01) C07K 14/47 (2006.01) C07K 16/18 (2006.01) C12N 15/63 (2006.01) C12P 21/02 (2006.01) C12Q 1/68 (2006.01) G01N 33/53 (2006.01)

Patent

CA 2471063

The present invention pertains to a nucleic acid sequence encoding a human TFIIH 8kDa subunit and related sequences. The nucleic acids may be used in methods for producing a TFIIH subunit, as well as in methods for diagnosing or treating transcription and NER deficiencies, in particular in some forms of trichothiodystrophy (TTD). The hTFB5 / TTDA gene and encoded protein may be used for therapy or genetherapy products, aimed at treating congenital NER disorders and may also be used in methods of diagnosis of disorders in basal transcription, NER and TCR activity in mammals, using molecular probes or antibodies specific for TTDA.

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