# Bestrophin 1

> mammalian protein found in Homo sapiens

**Wikidata**: [Q21112809](https://www.wikidata.org/wiki/Q21112809)  
**Source**: https://4ort.xyz/entity/bestrophin-1-q21112809


## References

1. UniProt
2. [InterPro Release 71.0](http://www.ebi.ac.uk/interpro/protein/O76090)
3. Q20641742
4. [GOA](http://www.ebi.ac.uk/QuickGO/annotations?protein=O76090&geneProductId=UniProtKB:O76090)
5. [Bestrophin-1 enables Ca2+-activated Cl- conductance in epithelia](http://www.ebi.ac.uk/QuickGO/annotations?protein=O76090&geneProductId=UniProtKB:O76090)
6. [Human disease-causing mutations disrupt an N-C-terminal interaction and channel function of bestrophin 1](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O76090)
7. [GOA](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O76090)
8. [Bestrophin-1 enables Ca2+-activated Cl- conductance in epithelia](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O76090)
9. [Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O76090)
10. [VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O76090)
11. [Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O76090)
12. [Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O76090)
13. [Identification of the gene responsible for Best macular dystrophy](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O76090)
14. Ensembl Release 99
15. Transporter Classification database