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opa3

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Official Full Name
optic atrophy 3
Background
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.
Synonyms
OPA3; optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia); optic atrophy 3 protein; FLJ22187; MGA3; FLJ25932; Iraqi Jewish optic atrophy plus (3 methylglutaconicaciduria type 3); MGC75494; OPA 3; OPA3 protein; Optic atrophy 3 (Iraqi Jewish optic atrophy plus); Optic atrophy 3; Optic atrophy 3 (Iraqi-Jewish optic atrophy plus); optic atrophy 3 protein homolog