COX7A2L: Cytochrome c Oxidase Subunit 7A2 Like
A key regulator of mitochondrial supercomplex assembly and respiratory chain efficiency
Gene Information Card
| Symbol | COX7A2L |
|---|---|
| Full Name | Cytochrome c Oxidase Subunit 7A2 Like |
| Gene Type | Protein coding |
| Chromosomal Location | 2p21 |
| NCBI Gene ID | 9167 ncbi.nlm.nih.gov/gene/9167 |
| Ensembl ID | ENSG00000115944 |
| UniProt ID | O14548 |
| OMIM ID | 609058 |
| HGNC ID | 2297 |
| Aliases | SCAFI, COX7AR, COX7A2L1, COX7A2L2 |
Description
COX7A2L (cytochrome c oxidase subunit 7A2 like) encodes a protein that is a component of the mitochondrial respiratory chain. It is essential for the assembly of supercomplexes (respirasomes) containing complexes I, III, and IV, thereby optimizing electron transfer and reducing reactive oxygen species production. The protein is also known as SCAFI (supercomplex assembly factor I).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial respiratory chain deficiencies | Impaired supercomplex assembly leads to reduced OXPHOS efficiency | PMID: 22982048 |
| Cardiomyopathy | Disrupted mitochondrial energetics in heart tissue | PMID: 25609768 |
| Neurodegenerative disorders | Altered mitochondrial dynamics and energy metabolism | PMID: 27799064 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 28.5 | High |
| Skeletal Muscle | 22.1 | High |
| Liver | 12.3 | Medium |
| Brain | 8.7 | Medium |
| Kidney | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Moderate expression |
| HEK293 | 18.9 | Moderate expression |
| SH-SY5Y | 10.5 | Low expression |
| HepG2 | 20.1 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287G>A (p.Arg96His) | Missense | <0.01% | Unknown functional effect |
| c.421C>T (p.Arg141Trp) | Missense | <0.01% | Potential loss of supercomplex assembly |
Mutation functional classification
Loss of Function (LOF)
Mutations impairing supercomplex assembly reduce OXPHOS efficiency.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Oxidative phosphorylation (KEGG: hsa00190)
• Respiratory electron transport (Reactome: R-HSA-611105)
• Mitochondrial supercomplex assembly (Reactome: R-HSA-8949215)
Protein Summary
COX7A2L is a 111-amino acid protein localized to the mitochondrial inner membrane. It acts as a supercomplex assembly factor, stabilizing interactions between complexes I, III, and IV. The protein contains a transmembrane domain and a coiled-coil region critical for its scaffolding function. Its expression is highest in tissues with high energy demand, such as heart and skeletal muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COX7A2L Knockout HEK293 Cell Line | EDJ-KQ5824 | Human | 9167 | Details Get a Quote |
| COX7A2L Knockout A-549 Cell Line | EDJ-KQ30603 | Human | 9167 | Details Get a Quote |
| COX7A2L Knockout HCT 116 Cell Line | EDJ-KQ30605 | Human | 9167 | Details Get a Quote |
| COX7A2L Knockout HeLa Cell Line | EDJ-KQ30606 | Human | 9167 | Details Get a Quote |
