COX18
Cytochrome c oxidase assembly factor 18
Gene Information Card
| Symbol | COX18 |
|---|---|
| Full Name | cytochrome c oxidase assembly factor 18 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q13.3 |
| NCBI Gene ID | 285521 ncbi.nlm.nih.gov/gene/285521 |
| Ensembl ID | ENSG00000163694 |
| UniProt ID | Q8N8Q8 |
| OMIM ID | 610428 |
| HGNC ID | 26896 |
| Aliases | COX18, COX18 cytochrome c oxidase assembly factor, COX18 mitochondrial, COX18 (yeast) homolog |
Description
The COX18 gene encodes a protein involved in the assembly of cytochrome c oxidase (complex IV), the terminal enzyme of the mitochondrial electron transport chain. COX18 is required for the membrane insertion of the Cox2 subunit, a critical step in complex IV biogenesis. Mutations in COX18 are associated with mitochondrial complex IV deficiency and related disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex IV deficiency | Loss-of-function mutations impair COX18-mediated insertion of Cox2, leading to defective cytochrome c oxidase assembly and reduced ATP production. | ClinVar, OMIM |
| Leigh syndrome | Biallelic pathogenic variants in COX18 cause Leigh syndrome, a severe neurodegenerative disorder characterized by bilateral brain lesions. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.8 | Medium |
| Liver | 6.2 | Low |
| Brain | 5.1 | Low |
| Kidney | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 8.3 | Medium |
| HEK293 | 7.1 | Low |
| HepG2 | 6.5 | Low |
| K562 | 4.9 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.226C>T (p.Arg76*) | Nonsense | Rare | Premature stop, loss of function |
| c.404G>A (p.Arg135Gln) | Missense | Rare | Impaired protein function |
Mutation functional classification
Loss of Function (LOF)
Pathogenic variants in COX18 typically result in loss of function, leading to mitochondrial complex IV deficiency.
Gain of Function (GOF)
No evidence of gain-of-function mutations in COX18.
Dominant Negative (DN)
No evidence of dominant-negative effects; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial inner membrane (GO:0005743) | • mitochondrial intermembrane space (GO:0005758) |
| • cytochrome c oxidase assembly (GO:0008535) | • integral component of membrane (GO:0016021) |
| • mitochondrial respiratory chain complex IV assembly (GO:0033615) |
Pathways
• Mitochondrial complex IV assembly (Reactome: R-HSA-611105)
• Respiratory electron transport (Reactome: R-HSA-611105)
Protein Summary
COX18 is a mitochondrial inner membrane protein that functions as an assembly factor for cytochrome c oxidase. It facilitates the insertion of the Cox2 subunit into the membrane, a key step in complex IV biogenesis. The protein contains a conserved domain and is essential for proper mitochondrial function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COX18 Knockout HEK293 Cell Line | EDJ-KQ12986 | Human | 285521 | Details Get a Quote |
| COX18 Knockout A-549 Cell Line | EDJ-KQ42222 | Human | 285521 | Details Get a Quote |
| COX18 Knockout HCT 116 Cell Line | EDJ-KQ42223 | Human | 285521 | Details Get a Quote |
| COX18 Knockout HeLa Cell Line | EDJ-KQ42224 | Human | 285521 | Details Get a Quote |
