Gene: NR2F1

Alternate names for this Gene: BBOAS|BBSOAS|COUP-TFI|COUPTF1|EAR-3|EAR3|ERBAL3|SVP44|TCFCOUP1|TFCOUP1

Gene Summary: The protein encoded by this gene is a nuclear hormone receptor and transcriptional regulator. The encoded protein acts as a homodimer and binds to 5'-AGGTCA-3' repeats. Defects in this gene are a cause of Bosch-Boonstra optic atrophy syndrome (BBOAS).

Gene is located in Chromosome: 5

Location in Chromosome : 5q15

Description of this Gene: nuclear receptor subfamily 2 group F member 1

Type of Gene: protein-coding

rs587777276 in NR2F1 gene and Optic atrophy, intellectual disability syndrome PMID 24462372 2014 NR2F1 mutations cause optic atrophy with intellectual disability.