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Immunogen sequence: NRIKEAARRS EFFKTYICLP PAQLYHWVEM RTKMRIMGFR GTVIKPLNEE AAAELGAELL GEATIFIVGG GCLVLEYWRH QAQQRHKEEE QRAAWNALRD EVGHLALALE ALQAQVQAAP PQGALEELRT ELQEVRAQLC NPGRSASHAV PASKK; Positive Samples: Mouse eye, Rat eye; Cellular Location: Mitochondrion
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 (autosomal recessive, with chorea and spastic paraplegia); Optic atrophy 3 (Iraqi-Jewish 'optic atrophy plus'); Optic atrophy 3 protein; Optic atrophy 3 protein homolog
基因别名: D630048P19Rik; Gm1425; Gm472; MGA3; OPA3
UniProt ID: (Human) Q9H6K4, (Mouse) Q505D7
Entrez Gene ID: (Human) 80207, (Mouse) 403187, (Rat) 308409