Peptide sequence: SCLMLEYWRH QLQQRRKEKE RRVAREALRG EVGHLGLALE ELQAQVQATS
Sequence homology: Human: 100%; Pig: 82%
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.
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Protein Aliases: FLJ22187; FLJ25932; MGA3; MGC75494; Optic atrophy 3 (autosomal recessive; Optic atrophy 3 (Iraqi-Jewish 'optic atrophy plus'); Optic atrophy 3 protein; with chorea and spastic paraplegia)
Gene Aliases: MGA3; OPA3
UniProt ID: (Human) Q9H6K4
Entrez Gene ID: (Human) 80207