COX17
Cytochrome c oxidase copper chaperone COX17
Gene Information Card
| Symbol | COX17 |
|---|---|
| Full Name | cytochrome c oxidase copper chaperone COX17 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q25.33 |
| NCBI Gene ID | 10063 ncbi.nlm.nih.gov/gene/10063 |
| Ensembl ID | ENSG00000138477 |
| UniProt ID | Q14061 |
| OMIM ID | 604813 |
| HGNC ID | 2263 |
| Aliases | COX17, COX17P1, COX17P2, COX17P3, COX17P4 |
Description
COX17 encodes a copper chaperone that delivers copper ions to the mitochondrial cytochrome c oxidase (complex IV) for proper assembly and function. It is critical for mitochondrial respiration and energy production.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex IV deficiency, nuclear type 1 (MC4DN1) | Impaired copper delivery to COX leads to reduced cytochrome c oxidase activity | OMIM #604813; ClinVar pathogenic variants |
| Copper metabolism disorder | Disruption of copper homeostasis affecting COX assembly | NCBI Gene; UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | High |
| Liver | 8.2 | Medium |
| Brain | 6.1 | Medium |
| Skeletal muscle | 10.3 | High |
| Kidney | 7.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.4 | Ubiquitous expression |
| HEK293 | 8.7 | Ubiquitous expression |
| K562 | 6.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.241C>T (p.Arg81Trp) | Missense | Rare | Loss of copper chaperone function; associated with MC4DN1 |
| c.1A>G (p.Met1Val) | Start loss | Rare | Complete loss of protein; severe COX deficiency |
Mutation functional classification
Loss of Function (LOF)
Pathogenic missense and start-loss mutations impair copper delivery, reducing COX activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Mitochondrial complex IV assembly (Reactome: R-HSA-611105)
• Copper homeostasis (Reactome: R-HSA-936837)
Protein Summary
COX17 is a small, cysteine-rich protein localized to the mitochondrial intermembrane space. It binds copper ions and transfers them to the COX assembly machinery, enabling the maturation of cytochrome c oxidase. Defects in COX17 lead to mitochondrial complex IV deficiency, a severe multisystem disorder.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COX17 Knockout HEK293 Cell Line | EDJ-KQ50927 | Human | 10063 | Details Get a Quote |
| COX17 Knockout HeLa Cell Line | EDJ-KQ55310 | Human | 10063 | Details Get a Quote |
| COX17 Knockout A-549 Cell Line | EDJ-KQ63793 | Human | 10063 | Details Get a Quote |
| COX17 Knockout HCT 116 Cell Line | EDJ-KQ72250 | Human | 10063 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
