OPA3

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Template:Short description Template:Cs1 config Template:Infobox gene Optic atrophy 3 protein is a protein that in humans is encoded by the OPA3 gene.[1][2][3]

Clinical significance

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

References

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Further reading

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External links

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