COA8 Gene

Name cytochrome c oxidase assembly factor 8
Description This gene encodes a protein that localizes to the mitochondria, where it stimulates the release of cytochrome c, thereby promoting programmed cell death. Mutations in this gene have been found in individuals with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n COA8 (also known as APOPT1) is a mitochondrial protein that plays a crucial role in the assembly and stability of cytochrome c oxidase (COX), a key enzyme complex of the respiratory chain. Studies have shown that loss‐of‐function mutations in APOPT1/COA8 result in impaired COX assembly and activity, leading to severe mitochondrial dysfunction that manifests as early‐onset neurodegenerative disease marked by cavitating leukodystrophy and COX deficiency."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Moreover, reduced APOPT1 function appears to compromise the mitochondrial response to oxidative stress, thereby predisposing cells to increased reactive oxygen species and apoptosis. Genetic analyses have further implicated APOPT1/COA8 in neurological conditions, underscoring its role not only in bioenergetics but also in maintaining mitochondrial integrity in the nervous system."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Collectively, these findings identify COA8/APOPT1 as a key factor in COX biogenesis whose dysfunction can precipitate a spectrum of mitochondrial and neurodevelopmental disorders.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Laura Melchionda, Tobias B Haack, Steven Hardy, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2014.08.003"}], "href": "https://doi.org/10.1016/j.ajhg.2014.08.003"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25175347"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25175347"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Suvasini Sharma, Preeti Singh, Erika Fernandez-Vizarra, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cavitating Leukoencephalopathy With Posterior Predominance Caused by a Deletion in the APOPT1 Gene in an Indian Boy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Child Neurol (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1177/0883073818760875"}], "href": "https://doi.org/10.1177/0883073818760875"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29577824"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29577824"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Liang Ma, Anna Shcherbina, Sundari Chetty "}, {"type": "b", "children": [{"type": "t", "text": "Variations and expression features of CYP2D6 contribute to schizophrenia risk."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Psychiatry (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41380-020-0675-y"}], "href": "https://doi.org/10.1038/s41380-020-0675-y"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32047265"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32047265"}]}]}]}
NCBI Gene ID 84334
API
Download Associations
Predicted Functions View COA8's ARCHS4 Predicted Functions.
Co-expressed Genes View COA8's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View COA8's ARCHS4 Predicted Functions.

Functional Associations

COA8 has 799 functional associations with biological entities spanning 6 categories (disease, phenotype or trait, functional term, phrase or reference, chemical, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 28 datasets.

Click the + buttons to view associations for COA8 from the datasets below.

If available, associations are ranked by standardized value

Dataset Summary
Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles tissue samples with high or low expression of COA8 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
CellMarker Gene-Cell Type Associations cell types associated with COA8 gene from the CellMarker Gene-Cell Type Associations dataset.
ClinVar Gene-Phenotype Associations 2025 phenotypes associated with COA8 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
CM4AI KOLF21J CRISPRi Gene Perturbation Atlas gene perturbations changing expression of COA8 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores 2025 cellular components containing COA8 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 cellular components co-occuring with COA8 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
DISEASES Curated Gene-Disease Association Evidence Scores 2025 diseases involving COA8 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
DISEASES Experimental Gene-Disease Association Evidence Scores 2025 diseases associated with COA8 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 diseases co-occuring with COA8 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
GO Biological Process Annotations 2025 biological processes involving COA8 gene from the curated GO Biological Process Annotations2025 dataset.
GO Cellular Component Annotations 2025 cellular components containing COA8 protein from the curated GO Cellular Component Annotations 2025 dataset.
GTEx eQTL 2025 SNPs regulating expression of COA8 gene from the GTEx eQTL 2025 dataset.
GTEx Tissue Gene Expression Profiles 2023 tissues with high or low expression of COA8 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset.
GTEx Tissue-Specific Aging Signatures tissue samples with high or low expression of COA8 gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset.
GWAS Catalog SNP-Phenotype Associations 2025 phenotypes associated with COA8 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
IMPC Knockout Mouse Phenotypes phenotypes of mice caused by COA8 gene knockout from the IMPC Knockout Mouse Phenotypes dataset.
JASPAR Predicted Human Transcription Factor Targets 2025 transcription factors regulating expression of COA8 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset.
JASPAR Predicted Mouse Transcription Factor Targets 2025 transcription factors regulating expression of COA8 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset.
NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles drug perturbations changing expression of COA8 gene from the NIBR DRUG-seq U2OS MoA Box dataset.
Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures gene perturbations changing expression of COA8 gene from the Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures dataset.
Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures gene perturbations changing expression of COA8 gene from the Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures dataset.
Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures gene perturbations changing expression of COA8 gene from the Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures dataset.
Rummagene Transcription Factor Associations 2026 transcription factors regulating expression of COA8 gene from the Rummagene Transcription Factor Associations 2026 dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of COA8 gene from the RummaGEO Drug Perturbation Signatures dataset.
RummaGEO Gene Perturbation Signatures gene perturbations changing expression of COA8 gene from the RummaGEO Gene Perturbation Signatures dataset.
Sci-Plex Drug Perturbation Signatures drug perturbations changing expression of COA8 gene from the Sci-Plex Drug Perturbation Signatures dataset.
TISSUES Curated Tissue Protein Expression Evidence Scores 2025 tissues with high expression of COA8 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset.
TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 tissues co-occuring with COA8 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.