靶标:
OPA3
产品别名:
MGA3; OPA3; outer mitochondrial membrane lipid metabolism regulator OPA3; outer mitochondrial membrane lipid metabolism regulator OPA3; optic atrophy 3 protein; 3-methylglutaconic aciduria type III; OPA3 outer mitochondrial membrane lipid metabolism regulator; Optic atrophy 3 (Iraqi-Jewish 'optic atrophy plus'); optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia); 视神经萎缩蛋白3; 视神经萎缩蛋白3(OPA3);
背景信息:
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.