{"symbol":"OPA3","synonyms":["MGA3"],"name":"optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)","description":"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. [provided by RefSeq, Oct 2009]","ncbiEntrezGeneId":80207,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/80207","proteins":[{"symbol":"OPA3_HUMAN","href":"/api/1.0/protein/OPA3_HUMAN"}],"hgncRootFamilies":[]}