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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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COX8A
cytochrome c oxidase subunit 8A
Chromosome 11 · 11q13.1
NCBI Gene: 1351Ensembl: ENSG00000176340.4HGNC: HGNC:2294UniProt: P10176
24PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmitochondrionmitochondrial membranerespiratory chain complex IVIsolated cytochrome C oxidase deficiencyleigh syndrome due to mitochondrial complex iv deficiencyneurodegenerative diseaseneuroinflammatory disorder
✦AI Summary

COX8A encodes cytochrome c oxidase subunit 8A, the smallest nuclear-encoded structural subunit of cytochrome c oxidase (complex IV), which is essential for mitochondrial oxidative phosphorylation 1. COX8A is required for the structural stability of complex IV monomers and dimers, with its loss resulting in 20-30% residual enzymatic activity and rapid degradation of unstable monomers while preserving supercomplexes with complexes I and III 2. Mutations in COX8A cause severe mitochondrial disease, including Leigh-like syndrome with leukodystrophy and epilepsy, demonstrating its indispensable role in human complex IV function 1. The protein serves as a biomarker for mitochondrial dysfunction in various pathological conditions, including sepsis where COX8A downregulation accompanies metabolic dysregulation 3, and cancer where it acts as a downstream target mediating oncogenic effects through mitochondrial respiratory function regulation 4. COX8A has been utilized as a mitochondrial marker for studying cristae dynamics using super-resolution microscopy, enabling visualization of mitochondrial inner membrane architecture in living cells 5. The gene's expression is also identified as a potential therapeutic target in drug resistance prediction models across different cancer types 6.

Sources cited
1
COX8A encodes the smallest nuclear-encoded subunit of complex IV and mutations cause Leigh-like syndrome
PMID: 26685157
2
COX8A is required for structural stability of complex IV monomers and dimers, with loss resulting in 20-30% residual activity
PMID: 33705280
3
COX8A downregulation occurs in sepsis and is associated with metabolic dysregulation
PMID: 40411399
4
COX8A serves as a downstream target mediating oncogenic effects through mitochondrial function regulation
PMID: 41422086
5
COX8A is used as a mitochondrial marker for studying cristae dynamics with super-resolution microscopy
PMID: 31455826
6
COX8A is identified as a potential therapeutic target in drug resistance prediction models
PMID: 39206872
Disease Associationsⓘ21
Isolated cytochrome C oxidase deficiencyOpen Targets
0.46Moderate
leigh syndrome due to mitochondrial complex iv deficiencyOpen Targets
0.36Weak
neurodegenerative diseaseOpen Targets
0.35Weak
neuroinflammatory disorderOpen Targets
0.27Weak
mitochondrial complex IV deficiency, nuclear type 15Open Targets
0.19Weak
neoplasmOpen Targets
0.11Weak
colorectal carcinomaOpen Targets
0.09Suggestive
ovarian cancerOpen Targets
0.09Suggestive
Alzheimer diseaseOpen Targets
0.09Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.08Suggestive
inclusion body myositisOpen Targets
0.08Suggestive
type 1 diabetes mellitusOpen Targets
0.07Suggestive
colitisOpen Targets
0.06Suggestive
SepsisOpen Targets
0.05Suggestive
meningiomaOpen Targets
0.05Suggestive
cancerOpen Targets
0.05Suggestive
melanomaOpen Targets
0.04Suggestive
chronic kidney diseaseOpen Targets
0.04Suggestive
breast cancerOpen Targets
0.04Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.04Suggestive
Mitochondrial complex IV deficiency, nuclear type 15UniProt
Pathogenic Variants1
NM_004074.3(COX8A):c.115-1G>CPathogenic
Mitochondrial complex IV deficiency, nuclear type 1
☆☆☆☆2020
View on ClinVar ↗
Related Genes
UQCR10Protein interaction100%UQCR11Protein interaction100%UQCRFS1Protein interaction100%UQCRC2Protein interaction100%UQCRBProtein interaction100%UQCRQProtein interaction100%
Tissue Expression6 tissues
Heart
100%
Brain
65%
Liver
65%
Lung
53%
Ovary
39%
Bone Marrow
29%
Gene Interaction Network
Click a node to explore
COX8AUQCR10UQCR11UQCRFS1UQCRC2UQCRBUQCRQ
PROTEIN STRUCTURE
Preparing viewer…
PDB8D4T · 3.10 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.92LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.42 [0.77–1.92]
RankingsWhere COX8A stands among ~20K protein-coding genes
  • #13,162of 20,598
    Most Researched24
  • #5,326of 5,498
    Most Pathogenic Variants1
  • #17,417of 17,882
    Most Constrained (LOEUF)1.92
Genes detectedCOX8A
Sources retrieved10 papers
Response time—
📄 Sources
10â–¼
1
Multi-Omics and -Organ Insights into Energy Metabolic Adaptations in Early Sepsis Onset.
PMID: 40411399
Adv Sci (Weinh) · 2025
1.00
2
DrugFormer: Graph-Enhanced Language Model to Predict Drug Sensitivity.
PMID: 39206872
Adv Sci (Weinh) · 2024
0.90
3
Transcription- and phosphorylation-dependent control of a functional interplay between XBP1s and PINK1 governs mitophagy and potentially impacts Parkinson disease pathophysiology.
PMID: 34030589
Autophagy · 2021
0.80
4
MRPL17 is a critical regulator of mitochondrial function and a novel therapeutic target in non-small cell lung cancer.
PMID: 41422086
Cell Death Dis · 2025
0.70
5
Molecular and Functional Effects of Loss of Cytochrome c Oxidase Subunit 8A.
PMID: 33705280
Biochemistry (Mosc) · 2021
0.60