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
References
Further reading
External links GeneReviews/NCBI/NIH/UW entry on 3-Methylglutaconic Aciduria Type 3 OMIM entries on 3-Methylglutaconic Aciduria Type 3






