COQ4 Gene Summary [Human]
This gene encodes a component of the coenzyme Q biosynthesis pathway. Coenzyme Q, an essential component of the electron transport chain, shuttles electrons between complexes I or II to complex III of the mitochondrial transport chain. This protein appears to play a structural role in stabilizing a complex that contains most of the coenzyme Q biosynthesis enzymes. Mutations in this gene are associated with mitochondrial disorders linked to coenzyme Q deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Details
| Type | Protein Coding |
| Official Symbol | COQ4 |
| Official Name | coenzyme Q4 [Source:HGNC Symbol;Acc:HGNC:19693] |
| Ensembl ID | ENSG00000167113 |
| Bio databases IDs | |
| Aliases | coenzyme Q4 |
| Synonyms | CGI-92, coenzyme Q4, COQ10D7, D2ERTD97E, SPAX10, Ubiqinone biosynthase |
| 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 COQ4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- carboxy-lyase
- enzyme
- protein binding
- Coenzyme Q (ubiquinone) biosynthesis protein Coq4
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal recessive spastic ataxia type 10
- hereditary spastic ataxia
- primary coenzyme Q10 deficiency type 7
- developmental disorder
- mitochondrial disorder
- COQ4-related disorder
- hereditary disorder
- breast cancer
regulates
- ubiquinone
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 matrix
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human COQ4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- ubiquinone biosynthetic process
Cellular Component
Where in the cell the gene product is active
- mitochondrion
- macromolecular complex
- extrinsic to mitochondrial inner membrane
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- protein binding