Gene Symbol | OPA3 |
Entrez Gene ID | 80207 |
Full Name | OPA3, outer mitochondrial membrane lipid metabolism regulator |
Synonyms | MGA3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | 3-methylglutaconic aciduria, type III, 258501 (3); Optic atrophy 3 with cataract, 165300 (3) |