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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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COX6A1
cytochrome c oxidase subunit 6A1
Chromosome 12 · 12q24.31|12q24.2
NCBI Gene: 1337Ensembl: ENSG00000111775.4HGNC: HGNC:2277UniProt: H6SG15
43PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionmitochondrial membraneprotein bindingenzyme regulator activityCharcot-Marie-Tooth disease recessive intermediate Dneurodegenerative diseasemitochondrial diseaseperipheral neuropathy
✦AI Summary

COX6A1 encodes cytochrome c oxidase subunit VIa, a component of mitochondrial respiratory complex IV that catalyzes the final step of the electron transport chain by reducing molecular oxygen to water 1. This ubiquitous isoform is synthesized as a preprotein and its expression is regulated by conserved promoter elements including binding sites for nuclear respiratory factors 1. Beyond its canonical respiratory function, COX6A1 exhibits cytoprotective properties by suppressing Bax-induced apoptosis and reducing reactive oxygen species generation, suggesting roles in cellular stress response 2. COX6A1 mutations cause autosomal-recessive Charcot-Marie-Tooth disease (CMT), with a reported 5 bp splicing defect leading to reduced COX6A1 expression and diminished respiratory complex IV activity 3. Cox6a1-null mice demonstrated neurogenic muscular atrophy and walking difficulties, confirming the neurological importance of this subunit 3. Recent proteomic studies implicate COX6A1 in broader disease contexts: repetitive traumatic brain injury upregulates Cox6a1 as a deregulated protein linked to neurodegenerative pathways 4, while COX6A1 upregulation in lung adenocarcinoma correlates with immune escape and tumor progression 5. COX6A1 also emerged as a biomarker for oral leukoplakia malignant transformation 6. These findings indicate COX6A1 functions beyond oxidative phosphorylation, participating in apoptosis regulation and immune modulation relevant to cancer and neurodegeneration.

Sources cited
1
COX6A1 encodes the ubiquitous isoform of cytochrome c oxidase subunit VIa, synthesized as a preprotein with expression regulated by NRF-1, NRF-2/GABP, and YY1 binding sites
PMID: 10773445
2
A 5 bp splicing deletion in COX6A1 intron 2 causes autosomal-recessive axonal or mixed CMT, with reduced COX6A1 expression and COX activity; Cox6a1-null mice show reduced COX activity and neurogenic muscular atrophy
PMID: 25152455
3
COX6A1 suppresses Bax-induced apoptosis and inhibits reactive oxygen species generation, protecting cells from 4-HPR-induced cell death through mitochondrial mechanisms
PMID: 18549809
4
Cox6a1 is deregulated in repetitive traumatic brain injury and linked to neurodegenerative disease pathways in brain proteomic analysis
PMID: 40545497
5
COX6A1 upregulation in lung adenocarcinoma correlates with immune cell infiltration, immune escape, and promotes cancer cell migration and proliferation
PMID: 40331946
6
COX6A1 is a key biomarker for oral leukoplakia malignant transformation with high diagnostic accuracy
PMID: 37454941
Disease Associationsⓘ21
Charcot-Marie-Tooth disease recessive intermediate DOpen Targets
0.72Strong
neurodegenerative diseaseOpen Targets
0.46Moderate
mitochondrial diseaseOpen Targets
0.37Weak
peripheral neuropathyOpen Targets
0.26Weak
Distal hereditary motor neuropathy type 5Open Targets
0.06Suggestive
X-linked Charcot-Marie-Tooth disease type 2Open Targets
0.06Suggestive
Charcot-Marie-Tooth disease type 2YOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
Charcot-Marie-Tooth disease type 1AOpen Targets
0.05Suggestive
type 2 diabetes mellitusOpen Targets
0.05Suggestive
Charcot-Marie-Tooth disease type 2B2Open Targets
0.05Suggestive
Charcot-Marie-Tooth disease, axonal, type 2FFOpen Targets
0.05Suggestive
Autosomal dominant spastic paraplegia type 17Open Targets
0.05Suggestive
Charcot-Marie-Tooth disease type 1COpen Targets
0.05Suggestive
Charcot-Marie-Tooth disease X-linked recessive 2Open Targets
0.05Suggestive
X-linked Charcot-Marie-Tooth disease type 3Open Targets
0.04Suggestive
amyotrophic lateral sclerosis type 11Open Targets
0.04Suggestive
familial amyotrophic lateral sclerosisOpen Targets
0.04Suggestive
neuronopathy, distal hereditary motor, autosomal recessive 8Open Targets
0.04Suggestive
lung adenocarcinomaOpen Targets
0.04Suggestive
Charcot-Marie-Tooth disease, recessive intermediate DUniProt
Pathogenic Variants1
NM_004373.4(COX6A1):c.247-7_247-3delPathogenic
Charcot-Marie-Tooth disease recessive intermediate D|not provided
★★☆☆2024
View on ClinVar ↗
Related Genes
NDUFS5Protein interaction100%UQCRHProtein interaction100%ATP5MGProtein interaction100%NDUFB9Protein interaction100%NDUFA8Protein interaction99%NDUFA5Protein interaction99%
Tissue Expression6 tissues
Liver
100%
Brain
90%
Lung
33%
Bone Marrow
31%
Ovary
29%
Heart
28%
Gene Interaction Network
Click a node to explore
COX6A1NDUFS5UQCRHATP5MGNDUFB9NDUFA8NDUFA5
PROTEIN STRUCTURE
Preparing viewer…
PDB5Z62 · 3.60 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.35LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF0.69 [0.38–1.35]
RankingsWhere COX6A1 stands among ~20K protein-coding genes
  • #9,712of 20,598
    Most Researched43
  • #5,140of 5,498
    Most Pathogenic Variants1
  • #14,164of 17,882
    Most Constrained (LOEUF)1.35
Genes detectedCOX6A1
Sources retrieved10 papers
Response time—
📄 Sources
10â–¼
1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis · 2022
1.00
2
Human COX6A1 gene: promoter analysis, cDNA isolation and expression in the monkey brain.
PMID: 10773445
Gene · 2000
0.90
3
Development and Validation of a Prognostic Model for Lung Adenocarcinoma Based on CAF-Related Genes: Unveiling the Role of COX6A1 in Cancer Progression and CAF Infiltration.
PMID: 40331946
Int J Mol Sci · 2025
0.80
4
Uncovering injury-specific proteomic signatures and neurodegenerative risks in single and repetitive traumatic brain injury.
PMID: 40545497
Signal Transduct Target Ther · 2025
0.70
5
Proteomic Analysis Reveals Oxidative Phosphorylation and JAK-STAT Pathways Mediated Pathogenesis of Pemphigus Vulgaris.
PMID: 39373252
Exp Dermatol · 2024
0.60