OPA3
Protein-coding gene in the species Homo sapiens
01Clinical 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.
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This article is adapted from the Wikipedia article “OPA3”, written by its contributors and licensed under CC BY-SA 4.0. Fathomly has changed the layout, removed citation markers, navigation and maintenance notices, and adjusted punctuation. This adapted version is shared under the same license. For references, see the original article.
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- Ideogram human chromosome 19.svg by National Center for Biotechnology Information, U.S. National Library of Medicine, Public domain
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