OPA3

Also known as MGA3, optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia), OPA3, outer mitochondrial membrane lipid metabolism regulator, OPA3 outer mitochondrial membrane lipid metabolism regulator, outer mitochondrial membrane lipid metabolism regulator OPA3

Optic atrophy 3 protein is a protein that in humans is encoded by the OPA3 gene.

Gene data

OPA3

Name: outer mitochondrial membrane lipid metabolism regulator OPA3
Type: protein-coding
Position: 45,527,767–45,602,212 (−)
Aliases: MGA3
Ensembl: ENSG00000125741
RefSeq RNA: NM_001017989.3, NM_025136.4, XM_006723403.5, XM_054322228.1
RefSeq protein: NP_001017989.2, NP_079412.1, XP_006723466.1, XP_054178203.1

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].