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GTF2H5 general transcription factor IIH subunit 5

Also known as: TTD; TFB5; TTD3; TTDA; TFIIH; TTD-A; TGF2H5; C6orf175; bA120J8.2


This gene encodes a subunit of transcription/repair factor TFIIH, which functions in gene transcription and DNA repair. This protein stimulates ERCC3/XPB ATPase activity to trigger DNA opening during DNA repair, and is implicated in regulating cellular levels of TFIIH. Mutations in this gene result in trichothiodystrophy, complementation group A. [provided by RefSeq, Mar 2009]

Associated conditions

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Trichothiodystrophy 3, photosensitive
MedGen: C4017171OMIM: 616395GeneReviews: Not available
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Genomic context

Chromosome: 6; NC_000006.12 (158168316..158199344)
Total number of exons:


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