GTF2H5

GTF2H5, also known as general transcription factor IIH subunit 5, is a protein-coding gene. The protein encoded by this gene is a component of the general transcription factor IIH (TFIIH) complex, a crucial multi-subunit factor involved in both DNA repair and transcription initiation. TFIIH plays a vital role in the transcription of genes by RNA polymerase II. Specifically, the GTF2H5 protein is part of the XPB/XPD helicase/ATPase core of TFIIH, which is essential for unwinding DNA during transcription initiation and nucleotide excision repair. Mutations in the GTF2H5 gene have been associated with certain genetic disorders, including trichothiodystrophy, a rare autosomal recessive condition characterized by brittle hair, intellectual disability, and developmental abnormalities. The precise mechanisms by which GTF2H5 dysfunction leads to these phenotypes are still under investigation, but they are thought to be linked to impaired DNA repair pathways. Research into GTF2H5 and its role in TFIIH continues to shed light on fundamental cellular processes and the genetic basis of disease.