Optic Atrophy 3 (OPA3)

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.

OPA3 cDNA encodes a deduced 179-amino acid protein. Northern blot analysis demonstrated a primary transcript of approximately 5.0 kb that was ubiquitously expressed, most prominently in skeletal muscle and kidney. Compared to other parts of the brain, the cerebral cortex, the medulla, the cerebellum, and the frontal lobe had slightly increased expression.