NR2F1

Coup (chicken ovalbumin upstream promoter) transcription factor binds to the ovalbumin promoter and, in conjunction with another protein (S300-II) stimulates initiation of transcription. Binds to both direct repeats and palindromes of the 5'-AGGTCA-3' motif. Represses transcriptional activity of LHCG.

Bosch-Boonstra-Schaaf optic atrophy syndrome

BBSOAS

An autosomal dominant disorder characterized by optic atrophy associated with developmental delay and intellectual disability. Most patients also have evidence of cerebral visual impairment.

None

The disease is caused by variants affecting the gene represented in this entry.

Belongs to the nuclear hormone receptor family. NR2 subfamily.

• Nucleus

EAR3, ERBAL3, TFCOUP1, NR2F1, COUP transcription factor 1, COUP-TF1, COUP transcription factor I, Nuclear receptor subfamily 2 group F member 1, V-erbA-related protein 3, COUP-TF I, EAR-3

• entrezGene:7025
• omim:132890
• swissprot:P10589

Proteins

Oncology

46156Da