COA8 Gene Summary [Human]
This gene encodes a protein that localizes to the mitochondria, where it stimulates the release of cytochrome c, thereby promoting programmed cell death. Mutations in this gene have been found in individuals with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
Details
| Type | Protein Coding |
| Official Symbol | COA8 |
| Official Name | cytochrome c oxidase assembly factor 8 [Source:HGNC Symbol;Acc:HGNC:20492] |
| Ensembl ID | ENSG00000256053 |
| Bio databases IDs | |
| Aliases | cytochrome c oxidase assembly factor 8, apoptogenic protein 1 |
| Synonyms | 1700081D05Rik, 2810002N01Rik, APOP, APOP-1, APOPT1, C14orf153, cytochrome c oxidase assembly factor 8, MC4DN17, RGD1304719 |
| 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 COA8 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 factor 8
- 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
- nuclear type 17 mitochondrial complex IV deficiency
- schizophrenia
- nuclear type 1 mitochondrial complex iv deficiency
- insomnia
- bipolar disorder
- global developmental delay with intellectual disability
- pervasive developmental disorder
- mitochondrial disorder
role in cell
- apoptosis
- cell death
- response
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
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human COA8 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
- intrinsic apoptotic signaling pathway
- response to reactive oxygen species
- protein stabilization
Cellular Component
Where in the cell the gene product is active
- mitochondrion