GTF2H3

GTF2H3, also known as Transcription Factor II H subunit 3, is a protein-coding gene. This gene encodes a subunit of the transcription factor II H (TFIIH), a multi-subunit complex essential for gene transcription by RNA polymerase II. TFIIH plays a crucial role in both the initiation and elongation phases of transcription, as well as in DNA repair. Specifically, GTF2H3 is one of the subunits that contributes to the helicase activity of the TFIIH complex. Mutations in GTF2H3 have been linked to certain human genetic disorders. For instance, mutations in this gene are a cause of trichothiodystrophy, a rare autosomal recessive disorder characterized by brittle hair, intellectual disability, and developmental abnormalities. The protein product of GTF2H3 interacts with other subunits of TFIIH, and its proper function is vital for the overall integrity and activity of the transcription machinery. Research continues to explore the precise mechanisms by which GTF2H3 contributes to transcription and DNA repair, as well as its role in disease pathogenesis.