COUP-TFI

COUP-TFI

File:COUP-TFI.png

COUP-TFI protein structure

COUP-TFI, also known as Chicken Ovalbumin Upstream Promoter Transcription Factor I, is a member of the steroid receptor superfamily of nuclear receptors. It is encoded by the NR2F1 gene in humans. COUP-TFI plays a crucial role in the development and differentiation of various tissues and organs in the body.

Function

COUP-TFI is a transcription factor that binds to direct repeats of the sequence 5'-AGGTCA-3'. It is involved in the regulation of several genes, including those involved in the development of the central nervous system, retina, inner ear, and adrenal gland. It also plays a role in the regulation of metabolism and circadian rhythm.

Clinical Significance

Mutations in the NR2F1 gene can lead to Bosch-Boonstra-Schaaf optic atrophy syndrome, a rare neurological disorder characterized by optic atrophy, intellectual disability, hypotonia, and seizures.

Research

Research on COUP-TFI has been focused on its role in the development of various tissues and organs, as well as its potential involvement in various diseases, including cancer, neurological disorders, and metabolic disorders.

See Also

• Nuclear receptor
• Transcription factor
• Bosch-Boonstra-Schaaf optic atrophy syndrome

References

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