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OPA1 - OPA1 mitochondrial dynamin like GTPase
- Synonym(s) : Dynamin-like 120 kDa protein, mitochondrial, dynamin-like guanosine triphosphatase, FLJ12460, KIAA0567, MGM1, mitochondrial dynamin-like GTPase, NPG, NTG
- Previous symbols and names : OPA1, mitochondrial dynamin like GTPase, optic atrophy 1 (autosomal dominant)
- Type : gene with protein product
- Chromosomal location : 3q29
- OMIM: 605290
- HGNC: 8140
- UniProtKB: O60313
- Genatlas: OPA1
- Ensembl: ENSG00000198836
- IUPHAR-DB: -
- Reactome: O60313
- LOVD: OPA1
Diseases list
- Disease-causing germline mutation(s) in Autosomal dominant optic atrophy, classic form
ORPHA:98673 - Disease-causing germline mutation(s) in Autosomal dominant optic atrophy plus syndrome
ORPHA:1215

Additional information
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