GTF2H1

GTF2H1, also known as Transcription Factor II H subunit 1, is a protein-coding gene found in humans. This gene is part of the general transcription factor II H (TFIIH) complex, which is essential for the initiation and elongation of transcription in RNA polymerase II. TFIIH plays a critical role in both DNA repair and transcription. Specifically, GTF2H1 is one of the core subunits of this complex. The protein it encodes is involved in nucleotide excision repair, a process that removes damaged DNA. Furthermore, GTF2H1 contributes to the helicase activity of the TFIIH complex, which is necessary for unwinding DNA during transcription. Mutations in GTF2H1 have been associated with certain genetic disorders, including trichothiodystrophy, a rare inherited condition characterized by defects in hair, nails, teeth, and intellectual disability. Research into GTF2H1 continues to explore its precise mechanisms of action within the TFIIH complex and its implications in human health and disease.