Optic atrophy 3 protein is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''OPA3''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
Clinical significance
Costeff syndrome, or
3-methylglutaconic aciduria type III, is a
genetic disorder
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders ...
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
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3-Methylglutaconic aciduria
3-Methylglutaconic aciduria (MGA) is any of at least five metabolic disorders that impair the body's ability to make energy in the mitochondria. As a result of this impairment, 3-methylglutaconic acid and 3-methylglutaric acid build up and can be ...
References
Further reading
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External links
GeneReviews/NCBI/NIH/UW entry on 3-Methylglutaconic Aciduria Type 3 OMIM entries on 3-Methylglutaconic Aciduria Type 3
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