Component of the TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. Necessary for the stability of the TFIIH complex and for the presence of normal levels of TFIIH in the cell. Defects in GTF2H5 are a cause of trichothiodystrophy photosensitive (TTDP). TTDP is an autosomal recessive disease characterized by sulfur-deficient brittle hair and nails, ichthyosis, mental retardation, impaired sexual development, abnormal facies and cutaneous photosensitivity correlated with a nucleotide excision repair (NER) defect. Neonates with trichothiodystrophy and ichthyosis are usually born with a collodion membrane. The severity of the ichthyosis after the membrane is shed is variable, ranging from a mild to severe lamellar ichthyotic phenotype. There are no reports of skin cancer associated with TTDP. Belongs to the TFB5 family. Note: This description may include information from UniProtKB.
Biological Process: transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; viral reproduction; positive regulation of viral transcription; transcription from RNA polymerase I promoter; RNA elongation from RNA polymerase I promoter; DNA repair; termination of RNA polymerase I transcription; regulation of gene expression, epigenetic; nucleotide-excision repair, preincision complex assembly; mRNA capping; regulation of transcription, DNA-dependent; negative regulation of gene expression, epigenetic; nucleotide-excision repair; transcription-coupled nucleotide-excision repair; RNA elongation from RNA polymerase II promoter; nucleotide-excision repair, DNA damage removal; gene expression; transcription initiation from RNA polymerase I promoter; rRNA processing
LTP: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.