Gene Symbol | NR2F1 |
Entrez Gene ID | 7025 |
Full Name | nuclear receptor subfamily 2 group F member 1 |
Synonyms | BBOAS,BBSOAS,COUP-TFI,EAR-3,EAR3,ERBAL3,NR2F2,SVP44,TCFCOUP1,TFCOUP1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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). [provided by RefSeq, Apr 2014]. |
Disorder MIM: | |
Disorder Html: | Bosch-Boonstra-Schaaf optic atrophy syndrome, 615722 (3) |