COX19
Cytochrome c oxidase assembly factor 19
Gene Information Card
| Symbol | COX19 |
|---|---|
| Full Name | cytochrome c oxidase assembly factor 19 |
| Gene Type | protein-coding |
| Chromosomal Location | 7p22.3 |
| NCBI Gene ID | 90639 ncbi.nlm.nih.gov/gene/90639 |
| Ensembl ID | ENSG00000146701 |
| UniProt ID | Q49B96 |
| OMIM ID | 610429 |
| HGNC ID | 24259 |
| Aliases | COX19, COX19P, COX19L |
Description
COX19 encodes a protein involved in the assembly of cytochrome c oxidase (complex IV), the terminal enzyme of the mitochondrial respiratory chain. The protein is localized to the mitochondrial intermembrane space and is essential for copper delivery to the COX2 subunit during complex IV assembly.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex IV deficiency | Impaired COX19 function disrupts COX assembly, reducing respiratory chain activity | OMIM #220110; ClinVar: pathogenic variants in COX19 associated with complex IV deficiency |
| Leigh syndrome | COX19 mutations may contribute to mitochondrial dysfunction in Leigh syndrome | Case reports in ClinVar; limited evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Liver | 8.3 | Low |
| Brain | 6.7 | Low |
| Skeletal muscle | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 8.9 | Moderate expression |
| HepG2 | 7.4 | Low expression |
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.100C>T (p.Arg34Trp) | missense | Rare | Impaired protein stability and COX assembly |
Mutation functional classification
Loss of Function (LOF)
Mutations disrupting start codon or protein stability reduce COX19 function, leading to 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)
| • mitochondrion (GO:0005739) | • mitochondrial intermembrane space (GO:0005758) |
| • respiratory chain complex IV assembly (GO:0008535) | • copper ion binding (GO:0005507) |
Pathways
• Mitochondrial complex IV assembly (Reactome: R-HSA-611105)
• Respiratory electron transport (Reactome: R-HSA-611105)
Protein Summary
COX19 is a small mitochondrial protein (approx. 11 kDa) that resides in the intermembrane space. It functions as a copper chaperone, delivering copper ions to the COX2 subunit during cytochrome c oxidase assembly. Loss of COX19 leads to defective complex IV activity and mitochondrial dysfunction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COX19 Knockout HEK293 Cell Line | EDJ-KQ10625 | Human | 90639 | Details Get a Quote |
| COX19 Knockout A-549 Cell Line | EDJ-KQ38121 | Human | 90639 | Details Get a Quote |
| COX19 Knockout HCT 116 Cell Line | EDJ-KQ38122 | Human | 90639 | Details Get a Quote |
| COX19 Knockout HeLa Cell Line | EDJ-KQ36820 | Human | 90639 | Details Get a Quote |
