Entity Details
| Primary name |
COA5_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q86WW8 |
| EntryName | COA5_HUMAN |
| FullName | Cytochrome c oxidase assembly factor 5 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 74 |
| SequenceStatus | complete |
| DateCreated | 2008-03-18 |
| DateModified | 2021-04-07 |
Subcellular Location
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Domains
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| Domain | Name | Category | Type |
| IPR018793 | Cytochrome c oxidase assembly protein PET191 | Family | Family |
Diseases
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| Disease ID | Source | Name | Description |
| 616500 | OMIM | Mitochondrial complex IV deficiency, nuclear type 9 (MC4DN9) | An autosomal recessive, infantile disorder with a fatal course in the first weeks of life, and characterized by hypertrophic cardiomyopathy and mitochondrial complex IV deficiency. Postmortem microscopic investigations show accumulation of lipid droplets in cardiomyocytes and mitochondrial proliferation. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
5 interactions