Gene
opa3
- ID
- ZDB-GENE-050210-1
- Name
- outer mitochondrial membrane lipid metabolism regulator OPA3
- Symbol
- opa3 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Involved in locomotory behavior; musculoskeletal movement; and regulation of buoyancy. Localizes to mitochondrion. Human ortholog(s) of this gene implicated in 3-methylglutaconic aciduria type 3 and optic atrophy 3. Is expressed in heart; liver; nervous system; and pleuroperitoneal region. Orthologous to human OPA3 (outer mitochondrial membrane lipid metabolism regulator OPA3).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 1 figure from Pei et al., 2010
- 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 |
---|---|---|---|
3-methylglutaconic aciduria type 3 | Alliance | 3-methylglutaconic aciduria, type III | 258501 |
optic atrophy 3 | Alliance | Optic atrophy 3 with cataract | 165300 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Family | IPR010754 | Optic atrophy 3-like |
Domain Details Per Protein
Protein | Length | Optic atrophy 3-like |
---|---|---|
UniProtKB:Q1L9A2
|
157 |
Interactions and Pathways
No data available
Plasmids
No data available