COX15
Cytochrome c oxidase assembly factor 15
Gene Information Card
| Symbol | COX15 |
|---|---|
| Full Name | cytochrome c oxidase assembly factor 15 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q24.2 |
| NCBI Gene ID | 1355 ncbi.nlm.nih.gov/gene/1355 |
| Ensembl ID | ENSG00000138160 |
| UniProt ID | Q7KZN9 |
| OMIM ID | 603646 |
| HGNC ID | 2263 |
| Aliases | COX15 homolog, CEMCOX2 |
Description
COX15 encodes a protein essential for the assembly of cytochrome c oxidase (complex IV), the terminal enzyme of the mitochondrial respiratory chain. The protein is involved in the synthesis of heme A, a prosthetic group required for complex IV activity. Mutations in COX15 cause mitochondrial complex IV deficiency, often presenting as fatal infantile hypertrophic cardiomyopathy or Leigh syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex IV deficiency, nuclear type 6 (MC4DN6) | Loss-of-function mutations impair heme A synthesis, disrupting complex IV assembly and oxidative phosphorylation. | OMIM #619053 |
| Leigh syndrome | COX15 mutations reduce complex IV activity, leading to neurodegeneration. | ClinVar, PubMed |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency | Severe COX15 deficiency causes early-onset hypertrophic cardiomyopathy and encephalopathy. | OMIM #603646 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.2 | Medium |
| Liver | 8.1 | Medium |
| Brain | 6.3 | Low |
| Kidney | 7.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.8 | Moderate expression |
| HEK293 | 8.5 | Moderate expression |
| K562 | 6.2 | Low expression |
| HepG2 | 7.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.700C>T (p.Arg234Trp) | Missense | Rare | Reduced protein stability and complex IV activity |
| c.1000C>T (p.Arg334*) | Nonsense | Rare | Premature truncation, loss of function |
| c.437G>A (p.Arg146Gln) | Missense | Rare | Impaired heme A synthesis |
Mutation functional classification
Loss of Function (LOF)
Most COX15 mutations are loss-of-function, leading to reduced or absent heme A synthesis and complex IV deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial inner membrane (GO:0005743) | • heme A biosynthetic process (GO:0006783) |
| • cytochrome c oxidase assembly (GO:0008535) | • cytochrome-c oxidase activity (GO:0004129) |
Pathways
• Mitochondrial complex IV assembly (Reactome: R-HSA-611105)
• Respiratory electron transport (Reactome: R-HSA-611105)
Protein Summary
COX15 is a mitochondrial inner membrane protein that catalyzes the conversion of heme O to heme A, a critical step in the maturation of cytochrome c oxidase. It forms a complex with other assembly factors to ensure proper incorporation of heme A into the enzyme. Defects in COX15 lead to severe mitochondrial disorders.
Related Services
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