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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: FLJ22187; FLJ25932; MGC75494; Optic atrophy 3 (Iraqi-Jewish 'optic atrophy plus'); Optic atrophy 3 protein
基因别名: MGA3; OPA3
UniProt ID: (Human) Q9H6K4
Entrez Gene ID: (Human) 80207