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.
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Protein Aliases: MGA3; OPA3; optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia); Optic atrophy 3 (Iraqi-Jewish 'optic atrophy plus'); Optic atrophy 3 protein; Optic atrophy 3 protein homolog
Gene Aliases: D630048P19Rik; Gm1425; Gm472; MGA3; OPA3