Aliases for GTF2H3 Gene
External Ids for GTF2H3 Gene
Previous GeneCards Identifiers for GTF2H3 Gene
This gene encodes a member of the TFB4 family. The encoded protein is a subunit of the core-TFIIH basal transcription factor and localizes to the nucleus. The encoded protein is involved in RNA transcription by RNA polymerase II and nucleotide excision repair and associates with the Cdk-activating kinase complex. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 14. [provided by RefSeq, Dec 2012]
GeneCards Summary for GTF2H3 Gene
GTF2H3 (General Transcription Factor IIH Subunit 3) is a Protein Coding gene. Diseases associated with GTF2H3 include Leukoencephalopathy With Vanishing White Matter and Xeroderma Pigmentosum, Complementation Group B. Among its related pathways are RNA Polymerase II Transcription Initiation And Promoter Clearance and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein N-terminus binding.
UniProtKB/Swiss-Prot Summary for GTF2H3 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.