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The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene.
Gene Name: | optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) |
Synonyms: | OPA3, MGA3, Optic atrophy 3 protein |
Target Sequences: | NM_025136 NP_079412.1 Q9H6K4 |
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