COX10 Gene

HGNC Family	Mitochondrial respiratory chain complex assembly factors
Name	COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
Description	Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes heme A:farnesyltransferase, which is not a structural subunit but required for the expression of functional COX and functions in the maturation of the heme A prosthetic group of COX. This protein is predicted to contain 7-9 transmembrane domains localized in the mitochondrial inner membrane. A gene mutation, which results in the substitution of a lysine for an asparagine (N204K), is identified to be responsible for cytochrome c oxidase deficiency. In addition, this gene is disrupted in patients with CMT1A (Charcot-Marie-Tooth type 1A) duplication and with HNPP (hereditary neuropathy with liability to pressure palsies) deletion. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Cytochrome c oxidase assembly protein 10 (COX10) is a mitochondrial inner membrane enzyme that plays a pivotal role in the biogenesis of cytochrome c oxidase (complex IV) by catalyzing the first step of heme A biosynthesis. Specifically, COX10 mediates the farnesylation of protoheme (heme B) to form heme O, a precursor required for the subsequent conversion to heme A, which is ultimately incorporated into the catalytic core of complex IV. This function is essential not only for proper assembly and activity of complex IV but also for maintaining overall mitochondrial oxidative phosphorylation efficiency. Mutations in COX10 disrupt heme A production and impair the assembly of complex IV, resulting in decreased holoenzyme formation, compromised cellular respiration, and reduced ATP production. Such deficiencies are associated with a spectrum of clinical phenotypes, including Leigh syndrome, hypertrophic cardiomyopathy, anemia, and other mitochondrial disorders."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition, COX10 expression is subject to regulation in various pathological contexts. For example, under hypoxic conditions, microRNA-210 is induced and targets COX10, among other mitochondrial factors, thereby contributing to a reduction in complex IV activity and altered mitochondrial metabolism."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}, {"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " Moreover, studies in cellular and animal models have demonstrated that reintroduction or complementation of wild-type COX10 can rescue COX deficiency and normalize heme A levels, underscoring its essential role in mitochondrial function."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "6", "end_ref": "8"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Furthermore, experimental ablation of COX10 in mouse models not only abolishes complex IV activity but can also indirectly affect the assembly or stability of other respiratory chain complexes, illustrating the interdependence of mitochondrial complexes for optimal electron transport. Collectively, these findings highlight the critical function of COX10 in mitochondrial heme metabolism and cytochrome c oxidase assembly, with perturbations in its activity leading to severe bioenergetic defects and diverse clinical manifestations.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Z Chen, Y Li, H Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Hypoxia-regulated microRNA-210 modulates mitochondrial function and decreases ISCU and COX10 expression."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncogene (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/onc.2010.193"}], "href": "https://doi.org/10.1038/onc.2010.193"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20498629"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20498629"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Hana Antonicka, Scot C Leary, Guy-Hellen Guercin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddg284"}], "href": "https://doi.org/10.1093/hmg/ddg284"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12928484"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12928484"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Francisca Diaz, Hirokazu Fukui, Sofia Garcia, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cytochrome c oxidase is required for the assembly/stability of respiratory complex I in mouse fibroblasts."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Biol (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1128/MCB.01767-05"}], "href": "https://doi.org/10.1128/MCB.01767-05"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16782876"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16782876"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Siôn L Williams, Isabelle Valnot, Pierre Rustin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M309232200"}], "href": "https://doi.org/10.1074/jbc.M309232200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14607829"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14607829"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Francesca Colleoni, Nisha Padmanabhan, Hong-Wa Yung, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Suppression of mitochondrial electron transport chain function in the hypoxic human placenta: a role for miRNA-210 and protein synthesis inhibition."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0055194"}], "href": "https://doi.org/10.1371/journal.pone.0055194"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23383105"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23383105"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Vincent Paupe, Julien Prudent, Emmanuel P Dassa, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CCDC90A (MCUR1) is a cytochrome c oxidase assembly factor and not a regulator of the mitochondrial calcium uniporter."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Metab (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cmet.2014.12.004"}], "href": "https://doi.org/10.1016/j.cmet.2014.12.004"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25565209"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25565209"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Sabrina Sacconi, Leonardo Salviati, Carolyn M Sue, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutation screening in patients with isolated cytochrome c oxidase deficiency."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pediatr Res (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1203/01.PDR.0000048100.91730.6A"}], "href": "https://doi.org/10.1203/01.PDR.0000048100.91730.6A"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12538779"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12538779"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Marieke J H Coenen, Lambert P van den Heuvel, Cristina Ugalde, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Neurol (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ana.20229"}], "href": "https://doi.org/10.1002/ana.20229"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15455402"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15455402"}]}]}]}
Proteins	COX10_HUMAN
NCBI Gene ID	1352
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

COX10 has 5,516 functional associations with biological entities spanning 9 categories (molecular profile, organism, disease, phenotype or trait, chemical, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 117 datasets.

Click the + buttons to view associations for COX10 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

COX10 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by COX10 gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of COX10 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of COX10 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of COX10 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of COX10 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of COX10 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of COX10 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of COX10 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of COX10 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of COX10 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of COX10 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with COX10 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of COX10 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of COX10 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of COX10 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with COX10 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of COX10 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing COX10 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing COX10 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing COX10 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing COX10 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with COX10 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with COX10 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of COX10 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with COX10 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with COX10 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with COX10 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with COX10 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of COX10 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 COX10 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving COX10 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving COX10 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with COX10 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with COX10 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with COX10 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 COX10 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with COX10 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at COX10 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of COX10 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of COX10 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.