COUP-TFI
Template:Short description Template:Infobox gene COUP-TF1 (COUP Transcription Factor 1) also known as NR2F1 (Nuclear Receptor subfamily 2, group F, member 1) is a protein that in humans is encoded by the NR2F1 gene.[1][2] This protein is a member of nuclear hormone receptor family of steroid hormone receptors.
Function
Coup (chicken ovalbumin upstream promoter) transcription factor binds to the ovalbumin promoter and, in conjunction with another protein (S300-II) stimulates initiation of transcription.[3][4] COUP-TF1 binds to both direct repeats and palindromes of the 5'-AGGTCA-3' motif.[5]
Interactions
COUP-TFI has been shown to interact with:
Clinical
Mutations in this gene have been associated with Bosch-Boonstra-Schaaf optic atrophy syndrome.[9]
References
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- ↑ Hobbs MM, Wolters WC, Rayapati AO (2020) Bosch-Boonstra-Schaaf optic atrophy syndrome presenting as new-onset psychosis in a 32-year-old man: A case report and literature review. J Psychiatr Pract 26(1):58-62
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External links
Further reading
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.