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cytochrome-c oxidase deficiency disease
Summary
- Synonym
-
- MITOCHONDRIAL COMPLEX IV DEFICIENCY
- Definition
- A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation.
- Super Class
- mitochondrial metabolism disease
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1120 | CHKB | choline kinase beta | |
| 1962 | EHHADH | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | |
| 2548 | GAA | alpha glucosidase | |
| 2632 | GBE1 | 1,4-alpha-glucan branching enzyme 1 | |
| 3030 | HADHA | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | |
| 5742 | PTGS1 | prostaglandin-endoperoxide synthase 1 | |
| 5743 | PTGS2 | prostaglandin-endoperoxide synthase 2 | |
| 23409 | SIRT4 | sirtuin 4 | |
| 51196 | PLCE1 | phospholipase C epsilon 1 | |
| 146183 | OTOA | otoancorin |
Related Glycoprotein
