GTF2H1

GTF2H1 is a gene that encodes a subunit of the general transcription factor IIH (TFIIH) complex in humans. The TFIIH complex is involved in nucleotide excision repair and transcription by RNA polymerase II. Mutations in this gene have been associated with trichothiodystrophy, a rare autosomal recessive disorder characterized by brittle hair, intellectual impairment, and decreased fertility.

Structure

The GTF2H1 gene is located on the short (p) arm of chromosome 7 at position 11.23. The gene spans approximately 31 kilobases and consists of 13 exons. The encoded protein, p62, is a component of the core TFIIH complex and interacts with other subunits of the complex.

Function

The TFIIH complex is a multi-subunit complex involved in transcription and DNA repair. In transcription, the complex is involved in the initiation of transcription by RNA polymerase II by unwinding the DNA around the transcription start site. In DNA repair, the complex is involved in nucleotide excision repair, a process that removes a wide range of DNA damage.

Clinical significance

Mutations in the GTF2H1 gene have been associated with trichothiodystrophy, a rare autosomal recessive disorder. Symptoms of trichothiodystrophy include brittle hair, intellectual impairment, decreased fertility, and photosensitivity. The disorder is caused by defects in nucleotide excision repair.

See also

• General transcription factor IIH
• Nucleotide excision repair
• Trichothiodystrophy

References

<references />

   This article is a medical stub. You can help WikiMD by expanding it!