OPA3
Function
May play some role in mitochondrial processes.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the OPA3 family.
Tissue Specificity
Ubiquitous. Most prominent expression in skeletal muscle and kidney.
Cellular localization
- Mitochondrion
Alternative names
Optic atrophy 3 protein, OPA3