NOVEL TFIIH SUBUNIT

摘要

The present invention pertains to a nucleic acid sequence encoding a humanTFIIH 8kDasubunit and related sequences. The nucleic acids may be used in methods forproducing a TFIIHsubunit, as well as in methods for diagnosing or treating transcription andNER deficiencies, inparticular in some forms of trichothiodystrophy (TTD). The hTFB5 / TTDA geneand encodedprotein may be used for therapy or genetherapy products, aimed at treatingcongenital NERdisorders and may also be used in methods of diagnosis of disorders in basaltranscription, NERand TCR activity in mammals, using molecular probes or antibodies specific forTTDA.