Outer mitochondrial membrane lipid metabolism regulator OPA3 (OPA3)

Outer mitochondrial membrane lipid metabolism regulator OPA3 (OPA3) is an integral mitochondrial outer membrane protein implicated in the regulation of mitochondrial morphology, specifically by promoting mitochondrial fragmentation (fission)[1]. Loss-of-function or mutations in the OPA3 gene result in abnormal mitochondrial structure and reduced energy production, with cells becoming more prone to apoptosis, especially those with high metabolic demand such as retinal ganglion cells and neurons[6][4]. Mutations in OPA3 cause autosomal dominant optic atrophy and cataract as well as Costeff syndrome (a form of 3-methylglutaconic aciduria with optic atrophy, ataxia, and movement disorders)[4][3][6]. OPA3’s normal physiological roles include mitochondrial shape maintenance, participation in lipid metabolism, and mediation of programmed cell death (apoptosis)[1][2]. It is not directly targeted by clinical drugs, but is of significant interest for research into mitochondrial diseases and neurodegeneration.

Other names

Optic atrophy 3 proteinFLJ22187MGA33-methylglutaconic aciduria type III proteinOptic atrophy 3 (Iraqi-Jewish 'optic atrophy plus')OPA3 outer mitochondrial membrane lipid metabolism regulatorOptic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)