OPA3
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Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). Optic atrophy 3 protein is a protein that in humans is encoded by the OPA3 gene.[1][2][3]
Clinical significance
[edit | edit source]Costeff syndrome, or 3-methylglutaconic aciduria type III, is a genetic disorder caused by mutations in the OPA3 gene.[4] In addition these mutations disrupt the production of non-shivering heat, as indicated by the dramatic decrease in surface body temperature.[5]
See also
[edit | edit source]References
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Further reading
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- Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
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External links
[edit | edit source]- GeneReviews/NCBI/NIH/UW entry on 3-Methylglutaconic Aciduria Type 3
- OMIM entries on 3-Methylglutaconic Aciduria Type 3
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