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 enable all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity; beta-carotene 15,15'-dioxygenase activity; and retinol isomerase activity. Predicted to be involved in retinal metabolic process and zeaxanthin biosynthetic process. Predicted to act upstream of or within visual perception. Predicted to be located in endoplasmic reticulum membrane. Is expressed in head and visual system. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 2; retinitis pigmentosa; retinitis pigmentosa 20; and retinitis pigmentosa 87. Orthologous to human RPE65 (retinoid isomerohydrolase RPE65).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 21 figures from 13 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 | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
rpe65a-201
(1)
|
Ensembl | 1,910 nt |
Interactions and Pathways
No data available
Plasmids
No data available