COX20 Gene Summary [Human]
This gene encodes a protein that plays a role in the assembly of cytochrome C oxidase, an important component of the respiratory pathway. It contains two transmembrane helices and localizes to the mitochondrial membrane. Mutations in this gene can cause mitochondrial complex IV deficiency, which results in ataxia and muscle hypotonia. There are multiple pseudogenes for this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
Details
| Type | Protein Coding |
| Official Symbol | COX20 |
| Official Name | cytochrome c oxidase assembly factor COX20 [Source:HGNC Symbol;Acc:HGNC:26970] |
| Ensembl ID | ENSG00000203667 |
| Bio databases IDs | |
| Aliases | cytochrome c oxidase assembly factor COX20 |
| Synonyms | 2310005N03Rik, cytochrome c oxidase assembly factor COX20, cytochrome c oxidase assembly protein 20, FAM36A, MC4DN11, RGD1309105 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human COX20 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Cytochrome c oxidase assembly protein COX20
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hereditary disorder
- nuclear type 11 mitochondrial complex IV deficiency
- Huntington disease
- mitochondrial disorder
role in cell
- growth
- tubulation
- tubulation in
- fragmentation in
- fragmentation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human COX20 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- mitochondrial respiratory chain complex IV assembly
Cellular Component
Where in the cell the gene product is active
- mitochondrion
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- protein binding