GTF2H2

GTF2H2, also known as general transcription factor IIH subunit 2, is a protein that plays a crucial role in the regulation of gene expression. It is a component of the general transcription factor IIH (TFIIH), a complex that is essential for the initiation of RNA polymerase II-dependent transcription. TFIIH is responsible for unwinding the DNA double helix, recruiting other transcription factors, and providing the energy for the initiation of transcription.

GTF2H2 is encoded by the GTF2H2 gene, which is located on chromosome 19 in humans. The protein is composed of 750 amino acids and has a molecular weight of approximately 85 kDa. It contains several conserved domains, including a DNA-binding domain, a helicase domain, and a kinase domain. The DNA-binding domain is responsible for recognizing and binding to specific DNA sequences, while the helicase domain unwinds the DNA double helix. The kinase domain is involved in the phosphorylation of other proteins, which is essential for the regulation of transcription.

GTF2H2 is expressed in a wide range of tissues and cell types, including the brain, liver, and kidney. It is involved in the regulation of various genes, including those involved in cell cycle regulation, DNA repair, and apoptosis. Mutations in the GTF2H2 gene have been associated with several genetic disorders, including Xeroderma pigmentosum group C (XPC), Cockayne syndrome, and trichothiodystrophy. These disorders are characterized by defects in DNA repair and increased susceptibility to cancer and other genetic diseases.

In summary, GTF2H2 is a critical component of the TFIIH complex, which is essential for the initiation of RNA polymerase II-dependent transcription. It plays a crucial role in the regulation of gene expression and is involved in the repair of DNA damage. Mutations in the GTF2H2 gene can lead to several genetic disorders, highlighting the importance of this protein in maintaining genomic stability and cellular homeostasis.