COX8A: Cytochrome c Oxidase Subunit 8A
Mitochondrial respiratory chain complex IV component
Gene Information Card
| Symbol | COX8A |
|---|---|
| Full Name | cytochrome c oxidase subunit 8A |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 1351 ncbi.nlm.nih.gov/gene/1351 |
| Ensembl ID | ENSG00000176340 |
| UniProt ID | P10176 |
| OMIM ID | 123870 |
| HGNC ID | 2288 |
| Aliases | COX8, COX8L, MC4DN20 |
Description
COX8A encodes subunit 8A of cytochrome c oxidase (complex IV), the terminal enzyme of the mitochondrial electron transport chain. This nuclear-encoded subunit is essential for the assembly and function of complex IV, which catalyzes the reduction of oxygen to water and contributes to the proton gradient driving ATP synthesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex IV deficiency, nuclear type 20 (MC4DN20) | Loss-of-function mutations in COX8A impair complex IV assembly and activity, leading to reduced ATP production and mitochondrial dysfunction. | ClinVar, OMIM |
| Leigh syndrome | COX8A mutations cause complex IV deficiency, a common biochemical hallmark of Leigh syndrome, resulting in neurodegeneration. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 15.2 | High |
| Skeletal muscle | 12.8 | High |
| Liver | 8.5 | Medium |
| Brain | 7.1 | Medium |
| Kidney | 6.9 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.3 | High expression |
| HEK293 | 12.1 | High expression |
| HepG2 | 9.8 | Medium expression |
| K562 | 7.5 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2T>C (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.157C>T (p.Arg53Trp) | Missense | Rare | Impaired complex IV assembly |
| c.206G>A (p.Gly69Asp) | Missense | Rare | Reduced enzyme activity |
Mutation functional classification
Loss of Function (LOF)
COX8A mutations typically cause loss of function by disrupting protein stability or complex IV assembly, leading to enzyme deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported for COX8A.
Dominant Negative (DN)
No dominant-negative mutations reported; COX8A deficiency is recessive.
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
COX8A is a small, nuclear-encoded subunit of mitochondrial cytochrome c oxidase (complex IV). It is located in the mitochondrial inner membrane and is required for the structural integrity and catalytic activity of the enzyme. The protein contains a single transmembrane domain and interacts with other subunits to facilitate electron transfer from cytochrome c to oxygen.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COX8A Knockout HEK293 Cell Line | EDJ-KQ3609 | Human | 1351 | Details Get a Quote |
| COX8A Knockout A-549 Cell Line | EDJ-KQ26818 | Human | 1351 | Details Get a Quote |
| COX8A Knockout HCT 116 Cell Line | EDJ-KQ26820 | Human | 1351 | Details Get a Quote |
| COX8A Knockout HeLa Cell Line | EDJ-KQ26821 | Human | 1351 | Details Get a Quote |
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