COX14
Cytochrome c Oxidase Assembly Factor COX14
Gene Information Card
| Symbol | COX14 |
|---|---|
| Full Name | Cytochrome c oxidase assembly factor COX14 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.12 |
| NCBI Gene ID | 84987 ncbi.nlm.nih.gov/gene/84987 |
| Ensembl ID | ENSG00000174483 |
| UniProt ID | Q96I81 |
| OMIM ID | 614478 |
| HGNC ID | 24216 |
| Aliases | C12orf62, COX14, COXIV, MC4DN10 |
Description
COX14 encodes a small protein localized to the mitochondrial inner membrane, where it functions as an assembly factor for cytochrome c oxidase (complex IV of the mitochondrial respiratory chain). It is required for the early steps of COX assembly, particularly the incorporation of heme a and copper ions into the catalytic core. Mutations in COX14 cause mitochondrial complex IV deficiency, nuclear type 10 (MC4DN10), a severe multisystem disorder often presenting with Leigh syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex IV deficiency, nuclear type 10 (MC4DN10) | Loss-of-function mutations impair COX assembly, reducing complex IV activity and ATP production. | OMIM #614478; ClinVar; PMID: 22833457 |
| Leigh syndrome | COX14 deficiency leads to mitochondrial dysfunction in the brain, causing neurodegeneration. | OMIM #256000; PMID: 22833457 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 14.2 | Medium |
| Skeletal muscle | 11.8 | Medium |
| Liver | 8.5 | Low |
| Brain | 7.3 | Low |
| Kidney | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.5 | Cervical cancer cell line |
| HEK293 | 10.1 | Embryonic kidney cell line |
| HepG2 | 8.9 | Hepatocellular carcinoma cell line |
| K562 | 7.4 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.209G>A (p.Trp70*) | Nonsense | Rare | Loss of function; premature stop codon leads to truncated protein |
| c.1A>G (p.Met1?) | Missense (start loss) | Rare | Loss of function; translation initiation failure |
| c.155_156delAG (p.Glu52Valfs*2) | Frameshift | Rare | Loss of function; frameshift and premature termination |
Mutation functional classification
Loss of Function (LOF)
All reported pathogenic mutations in COX14 are loss-of-function, leading to reduced or absent COX14 protein and impaired cytochrome c oxidase assembly.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial inner membrane (GO:0005743) | • mitochondrial respiratory chain complex IV (GO:0005751) |
| • mitochondrial electron transport (GO:0006123) | • cytochrome c oxidase assembly (GO:0017004) |
| • enzyme regulator activity (GO:0030234) |
Pathways
• Mitochondrial complex IV assembly (Reactome: R-HSA-611105)
• Respiratory electron transport (Reactome: R-HSA-611105)
• Oxidative phosphorylation (KEGG: hsa00190)
Protein Summary
COX14 is a 56-amino acid mitochondrial inner membrane protein that acts as a chaperone during the assembly of cytochrome c oxidase. It stabilizes early assembly intermediates and facilitates the insertion of heme a and copper cofactors. Without functional COX14, complex IV fails to assemble, leading to respiratory chain deficiency and mitochondrial disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COX14 Knockout HEK293 Cell Line | EDJ-KQ10295 | Human | 84987 | Details Get a Quote |
| COX14 Knockout A-549 Cell Line | EDJ-KQ37566 | Human | 84987 | Details Get a Quote |
| COX14 Knockout HCT 116 Cell Line | EDJ-KQ37567 | Human | 84987 | Details Get a Quote |
| COX14 Knockout HeLa Cell Line | EDJ-KQ37568 | Human | 84987 | Details Get a Quote |
