COX8C: Cytochrome c Oxidase Subunit 8C
Mitochondrial respiratory chain component with tissue-specific expression
Gene Information Card
| Symbol | COX8C |
|---|---|
| Full Name | Cytochrome c oxidase subunit 8C |
| Gene Type | Protein coding |
| Chromosomal Location | 14q32.12 |
| NCBI Gene ID | 341947 ncbi.nlm.nih.gov/gene/341947 |
| Ensembl ID | ENSG00000196352 |
| UniProt ID | Q7Z4W1 |
| OMIM ID | 619422 |
| HGNC ID | 33822 |
| Aliases | COX8-3, COX8L |
Description
COX8C encodes a subunit of cytochrome c oxidase (Complex IV), the terminal enzyme of the mitochondrial electron transport chain. This subunit is one of three tissue-specific isoforms of subunit 8, with COX8C being predominantly expressed in heart and skeletal muscle. It plays a role in the assembly and regulation of the holoenzyme complex.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex IV deficiency | Impaired oxidative phosphorylation due to defective COX assembly | ClinVar: pathogenic variants in COX assembly factors; direct COX8C variants not yet reported in OMIM |
| Cardiomyopathy | Potential link via reduced cardiac ATP production | Hypothetical based on expression pattern; no direct evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 8.3 | Medium |
| Liver | 0.2 | Not detected |
| Brain | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| H9c2 (rat cardiomyoblasts) | - | Model for cardiac expression |
| HeLa | 0.0 | Not expressed |
| HEK293 | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown significance; not reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Predicted for start-loss or nonsense variants; no confirmed pathogenic loss-of-function variants in ClinVar
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
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) |
Pathways
• ['Reactome:R-HSA-611105'
• 'Respiratory electron transport']
• ['Reactome:R-HSA-163200'
• 'Formation of ATP by chemiosmotic coupling']
Protein Summary
COX8C is a small (8.5 kDa) integral membrane protein localized to the mitochondrial inner membrane. It is a structural subunit of cytochrome c oxidase, contributing to the stability and regulation of the complex. The protein contains a single transmembrane domain and is expressed in a tissue-specific manner, primarily in heart and skeletal muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COX8C Knockout HEK293 Cell Line | EDJ-KQ12985 | Human | 341947 | Details Get a Quote |
| COX8C Knockout HeLa Cell Line | EDJ-KQ59719 | Human | 341947 | Details Get a Quote |
| COX8C Knockout A-549 Cell Line | EDJ-KQ68192 | Human | 341947 | Details Get a Quote |
| COX8C Knockout HCT 116 Cell Line | EDJ-KQ76566 | Human | 341947 | Details Get a Quote |
