COX7C: Cytochrome c Oxidase Subunit 7C
Mitochondrial Complex IV Nuclear-Encoded Subunit
Gene Information Card
| Symbol | COX7C |
|---|---|
| Full Name | cytochrome c oxidase subunit 7C |
| Gene Type | protein-coding |
| Chromosomal Location | 5q14.3 |
| NCBI Gene ID | 1350 ncbi.nlm.nih.gov/gene/1350 |
| Ensembl ID | ENSG00000127184 |
| UniProt ID | P15954 |
| OMIM ID | 603774 |
| HGNC ID | 2289 |
| Aliases | COX7C_HUMAN, cytochrome c oxidase polypeptide VIIc |
Description
COX7C encodes a nuclear-encoded subunit of cytochrome c oxidase (Complex IV), the terminal enzyme of the mitochondrial respiratory chain. This subunit is part of the catalytic core and is essential for electron transfer from cytochrome c to oxygen, contributing to ATP production via oxidative phosphorylation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial Complex IV Deficiency | Loss of COX7C function impairs complex IV assembly or activity, reducing ATP synthesis and causing mitochondrial dysfunction. | ClinVar, OMIM |
| Leigh Syndrome | Mutations in COX7C may contribute to complex IV deficiency, leading to neurodegeneration and metabolic failure. | ClinVar, OMIM |
| Cardiomyopathy | Reduced COX7C expression in cardiac tissue is associated with impaired oxidative phosphorylation and heart failure. | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 28.5 | High |
| Skeletal Muscle | 22.3 | High |
| Liver | 12.1 | Medium |
| Brain | 9.8 | Medium |
| Kidney | 8.4 | Medium |
| Lung | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.7 | Cervical cancer cell line |
| HEK293 | 15.4 | Embryonic kidney cells |
| HepG2 | 12.9 | Hepatocellular carcinoma |
| K562 | 10.1 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2T>C (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.154C>T (p.Arg52Trp) | Missense | <0.01% | Reduced complex IV activity in vitro |
| c.205_206del (p.Glu69fs) | Frameshift | <0.01% | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and start-loss mutations lead to truncated or absent protein, impairing complex IV assembly and activity.
Gain of Function (GOF)
No gain-of-function mutations reported for COX7C.
Dominant Negative (DN)
No dominant-negative mutations reported; COX7C is recessively inherited.
View complete mutation data：
Gene Ontology (GO)
| • cytochrome-c oxidase activity (GO:0004129) | • mitochondrial inner membrane (GO:0005743) |
| • integral component of membrane (GO:0016021) | • oxidative phosphorylation (GO:0006119) |
| • respiratory electron transport chain (GO:0022904) |
Pathways
• KEGG: hsa00190 - Oxidative phosphorylation
• Reactome: R-HSA-611105 - Respiratory electron transport
• Reactome: R-HSA-163200 - Formation of ATP by chemiosmotic coupling
Protein Summary
COX7C is a small (63 amino acids) nuclear-encoded subunit of cytochrome c oxidase (Complex IV). It is localized to the mitochondrial inner membrane and is required for proper assembly and catalytic activity of the holoenzyme. The protein contains a single transmembrane domain and interacts with other subunits to stabilize the complex. Defects in COX7C are associated with mitochondrial disorders, particularly those affecting tissues with high energy demand such as heart and skeletal muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COX7C Knockout HEK293 Cell Line | EDJ-KQ4324 | Human | 1350 | Details Get a Quote |
| COX7C Knockout HCT 116 Cell Line | EDJ-KQ26816 | Human | 1350 | Details Get a Quote |
| COX7C Knockout HeLa Cell Line | EDJ-KQ26817 | Human | 1350 | Details Get a Quote |
| COX7C Knockout A-549 Cell Line | EDJ-KQ61433 | Human | 1350 | Details Get a Quote |
