Aliases for GTF2H5 Gene
External Ids for GTF2H5 Gene
Previous HGNC Symbols for GTF2H5 Gene
Previous GeneCards Identifiers for GTF2H5 Gene
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]
GeneCards Summary for GTF2H5 Gene
GTF2H5 (General Transcription Factor IIH Subunit 5) is a Protein Coding gene. Diseases associated with GTF2H5 include Trichothiodystrophy 3, Photosensitive and Trichothiodystrophy. Among its related pathways are Transcription-Coupled Nucleotide Excision Repair (TC-NER) and RNA Polymerase I Promoter Escape. Gene Ontology (GO) annotations related to this gene include rDNA binding.
UniProtKB/Swiss-Prot Summary for GTF2H5 Gene
Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription. Necessary for the stability of the TFIIH complex and for the presence of normal levels of TFIIH in the cell.