COA7: Cytochrome c Oxidase Assembly Factor 7
A key mitochondrial assembly factor linked to neurological and metabolic disorders
Gene Information Card
| Symbol | COA7 |
|---|---|
| Full Name | Cytochrome c Oxidase Assembly Factor 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p32.3 |
| NCBI Gene ID | 152189 ncbi.nlm.nih.gov/gene/152189 |
| Ensembl ID | ENSG00000162521 |
| UniProt ID | Q96BR5 |
| OMIM ID | 615623 |
| HGNC ID | 26716 |
| Aliases | C1orf163, MC1DN14, RESA-1 |
Description
COA7 encodes a mitochondrial protein involved in the assembly of cytochrome c oxidase (complex IV) of the electron transport chain. It contains a leucine zipper-like motif and is essential for proper mitochondrial function. Mutations in COA7 are associated with mitochondrial complex IV deficiency and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex IV deficiency, nuclear type 14 (MC1DN14) | Loss-of-function mutations impair complex IV assembly, reducing ATP production | OMIM #615623; ClinVar |
| Leigh syndrome | Defective mitochondrial respiration leads to neurodegeneration | PubMed; ClinVar |
| Peripheral neuropathy | Mitochondrial dysfunction affects peripheral nerve function | OMIM; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 15.3 | Medium |
| Liver | 8.2 | Low |
| Skeletal muscle | 10.1 | Medium |
| Kidney | 9.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | High expression |
| HeLa | 11.5 | Moderate expression |
| SH-SY5Y | 13.2 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.430C>T (p.Arg144*) | Nonsense | Rare | Loss of function; premature stop codon |
| c.238G>A (p.Gly80Arg) | Missense | Rare | Impaired protein stability and assembly function |
| c.1A>G (p.Met1?) | Start loss | Rare | Complete loss of translation initiation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, causing complex IV deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial cytochrome c oxidase assembly | • mitochondrion |
| • protein binding | • metal ion binding |
Pathways
• Mitochondrial complex IV assembly
• Oxidative phosphorylation
Protein Summary
COA7 is a 221-amino acid mitochondrial protein that facilitates the assembly of cytochrome c oxidase. It localizes to the mitochondrial intermembrane space and interacts with other assembly factors. Defects in COA7 lead to impaired respiration and energy metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COA7 Knockout HEK293 Cell Line | EDJ-KQ12971 | Human | 65260 | Details Get a Quote |
| COA7 Knockout A-549 Cell Line | EDJ-KQ42195 | Human | 65260 | Details Get a Quote |
| COA7 Knockout HCT 116 Cell Line | EDJ-KQ42196 | Human | 65260 | Details Get a Quote |
| COA7 Knockout HeLa Cell Line | EDJ-KQ42197 | Human | 65260 | Details Get a Quote |
