OPA3 Products

Description

The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have beenshown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multipletranscript variants encoding different isoforms have been found for this gene. (provided by RefSeq)

Bioinformatics

Uniprot	NM_025136 Human NP_079412 Human NP_079412.1 Human Q9H6K4 Human
Product By Gene ID	80207
Alternate Names	FLJ22187 FLJ25932 MGA3Optic atrophy 3 (Iraqi-Jewish 'optic atrophy plus') MGC75494 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) optic atrophy 3 protein

Research Areas for OPA3

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Vision