GTF2E2 Human

General Transcription Factor IIE (TFIIE) is a crucial component of the transcription initiation complex in eukaryotic cells. It plays a significant role in the regulation of gene expression by facilitating the recruitment of other essential transcription factors and enzymes to the promoter regions of genes. The polypeptide 2 subunit of TFIIE, also known as GTF2E2, is a vital part of this complex.

TFIIE is a heterodimer composed of two subunits: alpha (GTF2E1) and beta (GTF2E2). The beta subunit, encoded by the GTF2E2 gene, has a molecular weight of approximately 34 kDa . The structure of TFIIE is sometimes described as a heterotetramer, consisting of two alpha and two beta subunits .

The primary function of TFIIE is to recruit the transcription factor TFIIH to the transcription initiation complex. TFIIH is essential for promoter clearance by RNA polymerase II, which is a critical step in the transcription process . TFIIE also stimulates the RNA polymerase II C-terminal domain kinase and DNA-dependent ATPase activities of TFIIH, further facilitating the transcription process .

Mutations in the GTF2E2 gene have been associated with certain genetic disorders. For example, trichothiodystrophy 6 (TTD6), a nonphotosensitive form of trichothiodystrophy, has been linked to mutations in this gene . Patients with TTD6 exhibit symptoms such as brittle hair, intellectual disability, and developmental delays .

The study of TFIIE and its subunits, including GTF2E2, is crucial for understanding the mechanisms of transcription regulation. Recombinant forms of these proteins are often used in research to investigate their functions and interactions with other transcription factors and enzymes. Human recombinant GTF2E2 is particularly valuable for in vitro studies, as it allows researchers to analyze the protein’s properties and its role in the transcription initiation complex without the variability introduced by other cellular components.