Also known as MGA3, optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia), OPA3, outer mitochondrial membrane lipid metabolism regulator, OPA3 outer mitochondrial membrane lipid metabolism regulator, outer mitochondrial membrane lipid metabolism regulator OPA3
Optic atrophy 3 protein is a protein that in humans is encoded by the OPA3 gene.
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. [provided by RefSeq, Oct 2009].
Biological process
Optic atrophy 3 protein is a protein that in humans is encoded by the OPA3 gene.
==Clinical significance== Costeff syndrome, or 3-methylglutaconic aciduria type III, is a genetic disorder caused by mutations in the OPA3 gene. In addition these mutations disrupt the production of non-shivering heat, as indicated by the dramatic decrease in surface body temperature. == See also == 3-Methylglutaconic aciduria
Cellular component
via MyGene.info
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).