CD Accession:
cl06196
CD Definition:
Optic atrophy 3 protein (OPA3); This family consists of several optic atrophy 3 (OPA3) proteins. OPA3 deficiency causes type III 3-methylglutaconic aciduria (MGA) in humans. This disease manifests with early bilateral optic atrophy, spasticity, extrapyramidal dysfunction, ataxia, and cognitive deficits, but normal longevity.
CD Name:
CD Superfamily: