COX16
Cytochrome c Oxidase Assembly Factor 16
Gene Information Card
| Symbol | COX16 |
|---|---|
| Full Name | Cytochrome c Oxidase Assembly Factor 16 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q22.1 |
| NCBI Gene ID | 51241 ncbi.nlm.nih.gov/gene/51241 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q9P0J0 |
| OMIM ID | 618365 |
| HGNC ID | 24213 |
| Aliases | COX16, COX16 homolog, C14orf100 |
Description
COX16 encodes a mitochondrial inner membrane protein essential for the assembly of cytochrome c oxidase (Complex IV) of the electron transport chain. It facilitates the incorporation of copper ions into the catalytic core of the enzyme, critical for mitochondrial respiration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex IV deficiency | Impaired COX assembly due to loss of COX16 function | OMIM #220110; ClinVar pathogenic variants |
| Leigh syndrome | COX deficiency leads to neurodegeneration | Case reports with biallelic COX16 variants |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Skeletal muscle | 8.7 | Medium |
| Liver | 5.1 | Low |
| Brain | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 10.1 | Moderate expression |
| K562 | 6.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense/start loss | Rare | Loss of protein expression |
| c.155T>C (p.Leu52Pro) | Missense | Rare | Impaired COX assembly |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function variants cause mitochondrial complex IV deficiency.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • mitochondrial inner membrane (GO:0005743) |
| • mitochondrial respiratory chain complex IV (GO:0005751) | • 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
COX16 is a 12 kDa mitochondrial inner membrane protein with a single transmembrane domain. It interacts with COX2 and COX17 to facilitate copper transfer during cytochrome c oxidase assembly. Defects in COX16 lead to impaired complex IV activity and mitochondrial dysfunction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COX16 Knockout HEK293 Cell Line | EDJ-KQ10994 | Human | 51241 | Details Get a Quote |
| COX16 Knockout A-549 Cell Line | EDJ-KQ38839 | Human | 51241 | Details Get a Quote |
| COX16 Knockout HCT 116 Cell Line | EDJ-KQ38840 | Human | 51241 | Details Get a Quote |
| COX16 Knockout HeLa Cell Line | EDJ-KQ38841 | Human | 51241 | Details Get a Quote |
| SYNJ2BP-COX16 Knockout HEK293 Cell Line | EDJ-KQ52499 | Human | 100529257 | Details Get a Quote |
| SYNJ2BP-COX16 Knockout HeLa Cell Line | EDJ-KQ60962 | Human | 100529257 | Details Get a Quote |
| SYNJ2BP-COX16 Knockout A-549 Cell Line | EDJ-KQ69437 | Human | 100529257 | Details Get a Quote |
| SYNJ2BP-COX16 Knockout HCT 116 Cell Line | EDJ-KQ77788 | Human | 100529257 | Details Get a Quote |
