COQ9 Gene Summary [Human]
This locus represents a mitochondrial ubiquinone biosynthesis gene. The encoded protein is likely necessary for biosynthesis of coenzyme Q10, as mutations at this locus have been associated with autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency.[provided by RefSeq, Sep 2010]
Details
| Type | Retained Intron |
| Official Symbol | COQ9 |
| Official Name | coenzyme Q9 [Source:HGNC Symbol;Acc:HGNC:25302] |
| Ensembl ID | ENSG00000088682 |
| Bio databases IDs | |
| Aliases | coenzyme Q9 |
| Synonyms | 2310005O14Rik, C16orf49, coenzyme Q9, COQ10D5 |
| 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 COQ9 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- lipid binding
- rpsU-divergently transcribed protein
- protein homodimerization
- COQ9
- protein binding
- enzyme activator activity
- isoprenoid binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- insulin resistance
- hereditary disorder
- encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
- weight loss
- demyelination
- astrocytosis
- myopathy
- primary coenzyme Q10 deficiency type 5
- paralysis
- gait disturbance
regulates
- ubiquinone
role in cell
- apoptosis
- formation
- abnormal morphology
- function
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 COQ9 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- mitochondrial electron transport, NADH to ubiquinone
- ubiquinone biosynthetic process
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 homodimerization activity
- protein binding
- lipid binding