GTF2H2

GTF2H2 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 and intellectual impairment.

Structure

The GTF2H2 gene is located on the q arm of chromosome 5 at position 12.3 and spans 23,484 base pairs. The gene produces a 2.2 kb mRNA which encodes a protein of 439 amino acids. The protein is a component of the core-TFIIH basal transcription factor and has a molecular weight of approximately 51 kDa.

Function

The GTF2H2 protein is a part of the TFIIH core complex, which is a multiprotein complex crucial for both nucleotide excision repair (NER) and transcription by RNA polymerase II. The TFIIH complex is composed of ten subunits, and the GTF2H2 protein is one of them. This protein, along with other subunits, plays a significant role in DNA repair and transcription initiation.

Clinical Significance

Mutations in the GTF2H2 gene have been associated with trichothiodystrophy (TTD), a rare autosomal recessive disorder. TTD is characterized by brittle hair, intellectual impairment, decreased fertility, and short stature. The disorder is caused by defects in the NER pathway, which is responsible for repairing DNA damage caused by ultraviolet (UV) light.

See Also

• General transcription factor IIH
• Nucleotide excision repair
• Trichothiodystrophy