Optic atrophy 3 protein is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...
that in humans is encoded by the ''OPA3''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
.
Clinical significance
Costeff syndrome
Costeff syndrome, or 3-methylglutaconic aciduria type III, is a genetic disorder caused by mutations in the ''OPA3'' gene. It is typically associated with the onset of visual deterioration (optic atrophy) in early childhood followed by the develop ...
, 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 chromosomal 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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