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.

Full Name

OPA3, Outer Mitochondrial Membrane Lipid Metabolism Regulator

Function

May play some role in mitochondrial processes.

Biological Process

Regulation of lipid metabolic processManual Assertion Based On ExperimentIBA:GO_Central
Response to stimulusIEA:UniProtKB-KW
Visual perceptionManual Assertion Based On ExperimentIMP:UniProtKB

Cellular Location

Mitochondrion

Involvement in disease

3-methylglutaconic aciduria 3 (MGCA3):
An autosomal recessive metabolic disorder that causes a neuro-ophthalmologic syndrome consisting of early-onset bilateral optic atrophy, spasticity, extrapyramidal dysfunction and cognitive deficit. Urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid is increased. MGCA3 can be distinguished from MGCA1 by the absence of increase of 3-hydroxyisovaleric acid levels.
Optic atrophy 3 (OPA3):
A condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA3 is associated with cataract and a neurologic disorder characterized by extrapyramidal signs and ataxia.