COX6A1: Cytochrome c Oxidase Subunit 6A1
Mitochondrial Complex IV Nuclear-Encoded Subunit
Gene Information Card
| Symbol | COX6A1 |
|---|---|
| Full Name | Cytochrome c Oxidase Subunit 6A1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 1337 ncbi.nlm.nih.gov/gene/1337 |
| Ensembl ID | ENSG00000111775 |
| UniProt ID | P12074 |
| OMIM ID | 602072 |
| HGNC ID | 2280 |
| Aliases | COX6A, COX6A1, cytochrome c oxidase subunit VIa polypeptide 1 |
Description
COX6A1 encodes a nuclear-encoded subunit of cytochrome c oxidase (Complex IV), the terminal enzyme of the mitochondrial electron transport chain. This subunit is essential for the assembly and catalytic activity of the holoenzyme, which transfers electrons from cytochrome c to molecular oxygen, contributing to ATP production. Mutations in COX6A1 are associated with mitochondrial complex IV deficiency and Leigh syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex IV deficiency | Loss-of-function mutations impair cytochrome c oxidase activity, reducing ATP synthesis and causing oxidative stress. | ClinVar, OMIM |
| Leigh syndrome | Biallelic pathogenic variants in COX6A1 disrupt mitochondrial respiration, leading to neurodegeneration. | OMIM #602072, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 15.2 | High |
| Skeletal muscle | 12.8 | High |
| Liver | 8.5 | Medium |
| Brain | 6.3 | Medium |
| Kidney | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.4 | Cervical cancer cell line |
| HEK293 | 9.7 | Embryonic kidney cells |
| SH-SY5Y | 7.2 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.184C>T (p.Arg62Trp) | Missense | Rare | Reduced COX activity; associated with Leigh syndrome |
| c.238G>A (p.Gly80Ser) | Missense | Rare | Impaired complex IV assembly |
| c.1A>G (p.Met1?) | Start loss | Very rare | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss variants reduce or abolish COX6A1 protein function, leading to complex IV deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative effects documented.
View complete mutation data：
Gene Ontology (GO)
| • Cytochrome-c oxidase activity | • Mitochondrial electron transport |
| • cytochrome c to oxygen | • Mitochondrial inner membrane |
| • Respiratory chain complex IV assembly |
Pathways
• Oxidative phosphorylation (KEGG: hsa00190)
• Respiratory electron transport (Reactome: R-HSA-611105)
Protein Summary
COX6A1 is a 12 kDa subunit of cytochrome c oxidase, localized to the mitochondrial inner membrane. It contains a transmembrane domain and is required for the structural integrity and catalytic efficiency of Complex IV. The protein interacts with other nuclear- and mitochondrial-encoded subunits to form the functional holoenzyme.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COX6A1 Knockout HEK293 Cell Line | EDJ-KQ50203 | Human | 1337 | Details Get a Quote |
| COX6A1 Knockout HeLa Cell Line | EDJ-KQ52961 | Human | 1337 | Details Get a Quote |
| COX6A1 Knockout A-549 Cell Line | EDJ-KQ61428 | Human | 1337 | Details Get a Quote |
| COX6A1 Knockout HCT 116 Cell Line | EDJ-KQ69925 | Human | 1337 | Details Get a Quote |
