COQ8A Gene

Name coenzyme Q8A
Description This gene encodes a mitochondrial protein similar to yeast ABC1, which functions in an electron-transferring membrane protein complex in the respiratory chain. It is not related to the family of ABC transporter proteins. Expression of this gene is induced by the tumor suppressor p53 and in response to DNA damage, and inhibiting its expression partially suppresses p53-induced apoptosis. Alternatively spliced transcript variants have been found; however, their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nCOQ8A (also known as ADCK3 or CABC1) is a mitochondrial protein that plays a critical role in the biosynthesis of ubiquinone (CoQ10), an essential lipid-soluble electron carrier in the mitochondrial respiratory chain. Multiple genetic studies have identified autosomal recessive mutations in COQ8A that result in reduced endogenous CoQ10 levels, leading to impaired electron transport and clinical features such as childhood-onset cerebellar ataxia, elevated lactate levels, and other multisystemic manifestations. These investigations have established a direct link between defective COQ8A function and primary CoQ10 deficiency, underscoring its importance in cellular energy homeostasis and neurodegeneration."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "5"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBiochemical and structural studies have refined our understanding of COQ8A’s molecular function. Although annotated as an atypical protein kinase, COQ8A lacks canonical protein kinase activity in trans and instead exhibits Mg²⁺-dependent ATPase activity. Structural analyses have revealed unique UbiB-specific motifs—including an N-terminal domain that occludes the conventional substrate-binding pocket and an A-rich loop that restricts ATP binding—thereby modulating its enzymatic properties. Moreover, COQ8A interacts with key CoQ biosynthetic components and oligomerizes via its transmembrane helix through extended Gly-zipper motifs, suggesting that its primary function may be to stabilize and potentially regulate the biosynthetic complex through non-canonical kinase activities."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "6", "end_ref": "9"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition to its enzymatic role, COQ8A is emerging as a multifunctional regulator of mitochondrial homeostasis. Alterations in its function not only compromise ubiquinone biosynthesis and mitochondrial respiratory chain activity but also lead to oxidative stress and perturbations in mitochondrial cristae integrity. These cellular disturbances are reflected in a broad clinical spectrum that includes not only ataxia and exercise intolerance but also features such as seizures and, in some studies, p53-dependent apoptotic responses. Early clinical and progression data suggest that exogenous CoQ10 supplementation may partially ameliorate the biochemical deficiencies associated with COQ8A mutations, highlighting its therapeutic potential."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "10", "end_ref": "12"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Clotilde Lagier-Tourenne, Meriem Tazir, Luis Carlos López, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2007.12.024"}], "href": "https://doi.org/10.1016/j.ajhg.2007.12.024"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18319074"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18319074"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Julie Mollet, Agnès Delahodde, Valérie Serre, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2007.12.022"}], "href": "https://doi.org/10.1016/j.ajhg.2007.12.022"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18319072"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18319072"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Jason K Cullen, Norazian Abdul Murad, Abrey Yeo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "AarF Domain Containing Kinase 3 (ADCK3) Mutant Cells Display Signs of Oxidative Stress, Defects in Mitochondrial Homeostasis and Lysosomal Accumulation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0148213"}], "href": "https://doi.org/10.1371/journal.pone.0148213"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26866375"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26866375"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Adel Shalata, Michael Edery, Clair Habib, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurochem Res (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s11064-019-02786-5"}], "href": "https://doi.org/10.1007/s11064-019-02786-5"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30968303"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30968303"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Sara Uccella, Livia Pisciotta, Mariasavina Severino, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Photoparoxysmal response in ADCK3 autosomal recessive ataxia: a case report and literature review."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Epileptic Disord (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1684/epd.2021.1243"}], "href": "https://doi.org/10.1684/epd.2021.1243"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33622667"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33622667"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Jonathan A Stefely, Floriana Licitra, Leila Laredj, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cerebellar Ataxia and Coenzyme Q Deficiency through Loss of Unorthodox Kinase Activity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.molcel.2016.06.030"}], "href": "https://doi.org/10.1016/j.molcel.2016.06.030"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27499294"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27499294"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Jonathan A Stefely, Andrew G Reidenbach, Arne Ulbrich, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.molcel.2014.11.002"}], "href": "https://doi.org/10.1016/j.molcel.2014.11.002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25498144"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25498144"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Ambalika S Khadria, Benjamin K Mueller, Jonathan A Stefely, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A Gly-zipper motif mediates homodimerization of the transmembrane domain of the mitochondrial kinase ADCK3."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Am Chem Soc (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1021/ja505017f"}], "href": "https://doi.org/10.1021/ja505017f"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25216398"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25216398"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Brody Wheeler, Zongchao Jia "}, {"type": "b", "children": [{"type": "t", "text": "Preparation and characterization of human ADCK3, a putative atypical kinase."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Protein Expr Purif (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.pep.2014.12.008"}], "href": "https://doi.org/10.1016/j.pep.2014.12.008"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25540914"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25540914"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Rita Horvath, Birgit Czermin, Sweena Gulati, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurol Neurosurg Psychiatry (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/jnnp-2011-301258"}], "href": "https://doi.org/10.1136/jnnp-2011-301258"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22036850"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22036850"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Andreas Traschütz, Tommaso Schirinzi, Lucia Laugwitz, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Neurol (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ana.25751"}], "href": "https://doi.org/10.1002/ana.25751"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32337771"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32337771"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Megumi Iiizumi, Hirofumi Arakawa, Toshiki Mori, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Isolation of a novel gene, CABC1, encoding a mitochondrial protein that is highly homologous to yeast activity of bc1 complex."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Res (2002)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11888884"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11888884"}]}]}]}
NCBI Gene ID 56997
API
Download Associations
Predicted Functions View COQ8A's ARCHS4 Predicted Functions.
Co-expressed Genes View COQ8A's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View COQ8A's ARCHS4 Predicted Functions.

Functional Associations

COQ8A has 3,779 functional associations with biological entities spanning 6 categories (chemical, disease, phenotype or trait, functional term, phrase or reference, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 39 datasets.

Click the + buttons to view associations for COQ8A 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 COQ8A gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
Carcinogenome Chemical Perturbation Carcinogenicity Signatures small molecule perturbations changing expression of COQ8A gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
CCLE Cell Line Proteomics Cell lines associated with COQ8A protein from the CCLE Cell Line Proteomics dataset.
CellMarker Gene-Cell Type Associations cell types associated with COQ8A gene from the CellMarker Gene-Cell Type Associations dataset.
ChEA Transcription Factor Targets 2022 transcription factors binding the promoter of COQ8A gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
ClinVar Gene-Phenotype Associations 2025 phenotypes associated with COQ8A gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores 2025 cellular components containing COQ8A protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 cellular components co-occuring with COQ8A protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
DeepCoverMOA Drug Mechanisms of Action small molecule perturbations with high or low expression of COQ8A protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
DepMap CRISPR Gene Dependency cell lines with fitness changed by COQ8A gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
DISEASES Curated Gene-Disease Association Evidence Scores 2025 diseases involving COQ8A gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 diseases co-occuring with COQ8A gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
DisGeNET Gene-Disease Associations diseases associated with COQ8A gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
DisGeNET Gene-Phenotype Associations phenotypes associated with COQ8A gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
GO Biological Process Annotations 2023 biological processes involving COQ8A gene from the curated GO Biological Process Annotations 2023 dataset.
GO Biological Process Annotations 2025 biological processes involving COQ8A gene from the curated GO Biological Process Annotations2025 dataset.
GO Molecular Function Annotations 2023 molecular functions performed by COQ8A gene from the curated GO Molecular Function Annotations 2023 dataset.
GO Molecular Function Annotations 2025 molecular functions performed by COQ8A gene from the curated GO Molecular Function Annotations 2025 dataset.
GTEx eQTL 2025 SNPs regulating expression of COQ8A gene from the GTEx eQTL 2025 dataset.
GTEx Tissue Gene Expression Profiles 2023 tissues with high or low expression of COQ8A gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset.
GWAS Catalog SNP-Phenotype Associations 2025 phenotypes associated with COQ8A gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
JASPAR Predicted Human Transcription Factor Targets 2025 transcription factors regulating expression of COQ8A 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 COQ8A gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset.
LINCS L1000 CMAP Chemical Perturbation Consensus Signatures small molecule perturbations changing expression of COQ8A gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset.
LINCS L1000 CMAP CRISPR Knockout Consensus Signatures gene perturbations changing expression of COQ8A gene from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset.
MGI Mouse Phenotype Associations 2023 phenotypes of transgenic mice caused by COQ8A gene mutations from the MGI Mouse Phenotype Associations 2023 dataset.
MoTrPAC Rat Endurance Exercise Training tissue samples with high or low expression of COQ8A gene relative to other tissue samples from the MoTrPAC Rat Endurance Exercise Training dataset.
NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles drug perturbations changing expression of COQ8A gene from the NIBR DRUG-seq U2OS MoA Box dataset.
PFOCR Pathway Figure Associations 2024 pathways involving COQ8A protein from the Wikipathways PFOCR 2024 dataset.
Reactome Pathways 2024 pathways involving COQ8A protein from the Reactome Pathways 2024 dataset.
Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures gene perturbations changing expression of COQ8A 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 COQ8A gene from the Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of COQ8A gene from the RummaGEO Drug Perturbation Signatures dataset.
RummaGEO Gene Perturbation Signatures gene perturbations changing expression of COQ8A gene from the RummaGEO Gene Perturbation Signatures dataset.
Sci-Plex Drug Perturbation Signatures drug perturbations changing expression of COQ8A gene from the Sci-Plex Drug Perturbation Signatures dataset.
TISSUES Curated Tissue Protein Expression Evidence Scores 2025 tissues with high expression of COQ8A protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset.
TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 tissues with high expression of COQ8A protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset.
TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 tissues co-occuring with COQ8A protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.
WikiPathways Pathways 2024 pathways involving COQ8A protein from the WikiPathways Pathways 2024 dataset.