Gene
best1
- ID
- ZDB-GENE-110411-214
- Name
- bestrophin 1
- Symbol
- best1 Nomenclature History
- Previous Names
-
- si:ch1073-296i8.4
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Predicted to have chloride channel activity. Predicted to be involved in chloride transmembrane transport. Predicted to localize to chloride channel complex and plasma membrane. Human ortholog(s) of this gene implicated in autosomal dominant vitreoretinochoroidopathy; bestrophinopathy; macular degeneration; retinitis pigmentosa 50; and vitelliform macular dystrophy. Orthologous to human BEST1 (bestrophin 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Jiang et al., 2016
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant vitreoretinochoroidopathy | Alliance | Vitreoretinochoroidopathy | 193220 |
| autosomal dominant vitreoretinochoroidopathy | Alliance | ?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2 | 193220 |
| bestrophinopathy | Alliance | Bestrophinopathy, autosomal recessive | 611809 |
| retinitis pigmentosa 50 | Alliance | Retinitis pigmentosa, concentric | 613194 |
| retinitis pigmentosa 50 | Alliance | Retinitis pigmentosa-50 | 613194 |
| vitelliform macular dystrophy | Alliance | Macular dystrophy, vitelliform, 2 | 153700 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Bestrophin | Bestrophin-like |
|---|---|---|---|
|
UniProtKB:A0A2R8Q9T0
|
672 | ||
|
UniProtKB:A0A8M3ANU8
|
454 |
Interactions and Pathways
No data available
Plasmids
No data available