Gene
rpe65a
- ID
- ZDB-GENE-040426-1717
- Name
- retinoid isomerohydrolase RPE65 a
- Symbol
- rpe65a Nomenclature History
- Previous Names
-
- rpepa (1)
- zgc:73213
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to have all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity; retinal isomerase activity; and retinol isomerase activity. Predicted to be involved in retinal metabolic process and zeaxanthin biosynthetic process. Predicted to localize to endoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 2; retinitis pigmentosa; and retinitis pigmentosa 20. Is expressed in head and visual system. Orthologous to human RPE65 (retinoid isomerohydrolase RPE65).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 17 figures from 9 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:73213 (5 images)
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 |
|---|---|---|---|
| Leber congenital amaurosis 2 | Alliance | Leber congenital amaurosis 2 | 204100 |
| retinitis pigmentosa 20 | Alliance | Retinitis pigmentosa 20 | 613794 |
| retinitis pigmentosa 87 | Alliance | Retinitis pigmentosa 87 with choroidal involvement | 618697 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR004294 | Carotenoid oxygenase |
Domain Details Per Protein
| Protein | Length | Carotenoid oxygenase |
|---|---|---|
|
UniProtKB:Q6PBW5
|
531 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
rpe65a-201
(1)
|
Havana | 1744 nt |
Interactions and Pathways
No data available
Plasmids
No data available