COUP-TFI
COUP-TFI (Chicken Ovalbumin Upstream Promoter-Transcription Factor I), also known as NR2F1, is a nuclear receptor that plays a crucial role in the regulation of gene expression during development and cell differentiation.
Function
COUP-TFI is a member of the nuclear receptor family of intracellular transcription factors. It is involved in the regulation of several biological processes, including neurogenesis, organogenesis, and metabolism. COUP-TFI functions by binding to specific DNA sequences known as response elements, thereby modulating the transcription of target genes.
Role in Development
During embryonic development, COUP-TFI is essential for the proper formation of the central nervous system and the peripheral nervous system. It regulates the expression of genes involved in neuronal differentiation and axon guidance. COUP-TFI is also implicated in the development of the cardiovascular system and the limbs.
Clinical Significance
Mutations or dysregulation of COUP-TFI have been associated with various developmental disorders and diseases. For instance, alterations in COUP-TFI expression have been linked to congenital heart defects, intellectual disability, and autism spectrum disorders.
Interactions
COUP-TFI interacts with other transcription factors and co-regulators to exert its effects on gene expression. It can form heterodimers with other nuclear receptors, such as RXR (Retinoid X Receptor), to enhance or repress the transcription of target genes.
Research
Ongoing research is focused on understanding the precise mechanisms by which COUP-TFI regulates gene expression and its role in disease pathogenesis. Studies are also exploring the potential of targeting COUP-TFI for therapeutic interventions in diseases where its function is disrupted.
See Also
References
External Links
- [COUP-TFI at the US National Library of Medicine Medical Subject Headings (MeSH)]
- [NR2F1 gene information at NCBI]
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Contributors: Prab R. Tumpati, MD