(Optic Atrophy 3 (Autosomal Recessive, with Chorea and Spastic Paraplegia) (OPA3))
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].
Powell, Davies, Taylor, Wride, Votruba: "Mitochondrial localization and ocular expression of mutant Opa3 in a mouse model of 3-methylglutaconicaciduria type III." in: Investigative ophthalmology & visual science, Vol. 52, Issue 7, pp. 4369-80, (2011) (PubMed).