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OPA3 - outer mitochondrial membrane lipid metabolism regulator OPA3
- Synonym(s) : 3-methylglutaconic aciduria type III, FLJ22187, MGA3
- Previous symbols and names : OPA3, outer mitochondrial membrane lipid metabolism regulator, optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
- Type : gene with protein product
- Chromosomal location : 19q13.32
- OMIM: 606580
- HGNC: 8142
- UniProtKB: Q9H6K4
- Genatlas: OPA3
- GenCC: OPA3
- Ensembl: ENSG00000125741
- IUPHAR-DB: -
- Reactome: -
- LOVD: OPA3
Diseases list
- Disease-causing germline mutation(s) in 3-methylglutaconic aciduria type 3
ORPHA:67047 
- Disease-causing germline mutation(s) in Autosomal dominant optic atrophy and cataract
ORPHA:67036
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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