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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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: 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
Gene Aliases: D630048P19Rik; Gm1425; Gm472; MGA3; OPA3
UniProt ID: (Human) Q9H6K4, (Mouse) Q505D7
Entrez Gene ID: (Human) 80207, (Mouse) 403187, (Rat) 308409
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