ACAD9 Gene

HGNC Family	Mitochondrial respiratory chain complex assembly factors
Name	acyl-CoA dehydrogenase family, member 9
Description	This gene encodes a member of the acyl-CoA dehydrogenase family. Members of this family of proteins localize to the mitochondria and catalyze the rate-limiting step in the beta-oxidation of fatty acyl-CoA. The encoded protein is specifically active toward palmitoyl-CoA and long-chain unsaturated substrates. Mutations in this gene cause acyl-CoA dehydrogenase family member type 9 deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Acyl‐CoA dehydrogenase 9 (ACAD9) is a mitochondrial enzyme that plays a dual role in cellular energy metabolism. On one hand, as a member of the acyl‐CoA dehydrogenase family, ACAD9 exhibits enzymatic activity toward long‐chain unsaturated acyl‐CoA substrates and thereby contributes to mitochondrial β‐oxidation processes in tissues with high expression such as the brain and liver (3,6,12). On the other hand, ACAD9 functions as an essential assembly factor for respiratory chain complex I (NADH:ubiquinone oxidoreductase). In this role it interacts with other assembly factors—including NDUFAF1 and ECSIT—to facilitate proper complex I assembly and stability, a process vital for effective oxidative phosphorylation (1,2,4,5)."}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Genetic mutations in ACAD9 have been linked to complex I deficiency, resulting in clinical manifestations such as cardiomyopathy, encephalomyopathy, and exercise intolerance. Notably, the severity of these disorders appears to correlate inversely with the residual ACAD enzymatic activity, emphasizing the importance of its catalytic function in tissues where fatty acid oxidation is critical (3,4,9,10,11). In addition, experimental evidence suggests that while the dehydrogenase activity of ACAD9 is physiologically significant for long‐chain fatty acid oxidation, it may be dispensable for its role in complex I assembly, implying a functional divergence following gene duplication from its evolutionary relative, very‐long‐chain acyl‐CoA dehydrogenase (7,8).\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Collectively, these findings underscore the multifaceted functions of ACAD9 in maintaining mitochondrial bioenergetics and metabolic homeostasis by bridging fatty acid oxidation with the biogenesis of respiratory complex I (5,8).\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n (1)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ", \n (2)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ", \n (3)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": ", \n (4)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": ", \n (5)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": ", \n (6)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": ", \n (7)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": ", \n (8)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": ", \n (9)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": ", \n (10)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "10"}]}, {"type": "t", "text": ", \n (11)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "11"}]}, {"type": "t", "text": ", \n (12)."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "12"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Tobias B Haack, Katharina Danhauser, Birgit Haberberger, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.706"}], "href": "https://doi.org/10.1038/ng.706"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21057504"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21057504"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Jessica Nouws, Leo Nijtmans, Sander M Houten, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Metab (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cmet.2010.08.002"}], "href": "https://doi.org/10.1016/j.cmet.2010.08.002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20816094"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20816094"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "M He, S L Rutledge, D R Kelly, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1086/519219"}], "href": "https://doi.org/10.1086/519219"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17564966"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17564966"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Mike Gerards, Bianca J C van den Bosch, Katharina Danhauser, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/brain/awq273"}], "href": "https://doi.org/10.1093/brain/awq273"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20929961"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20929961"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Miao He, Zhengtong Pei, Al-Walid Mohsen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification and characterization of new long chain acyl-CoA dehydrogenases."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Genet Metab (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ymgme.2010.12.005"}], "href": "https://doi.org/10.1016/j.ymgme.2010.12.005"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21237683"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21237683"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Regina Ensenauer, Miao He, Jan-Marie Willard, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Human acyl-CoA dehydrogenase-9 plays a novel role in the mitochondrial beta-oxidation of unsaturated fatty acids."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M504460200"}], "href": "https://doi.org/10.1074/jbc.M504460200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16020546"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16020546"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Jessica Nouws, Heleen Te Brinke, Leo G Nijtmans, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddt521"}], "href": "https://doi.org/10.1093/hmg/ddt521"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24158852"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24158852"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Xiaolin Lin, Junshuang Jia, Tao Du, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Overexpression of miR-155 in the liver of transgenic mice alters the expression profiling of hepatic genes associated with lipid metabolism."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0118417"}], "href": "https://doi.org/10.1371/journal.pone.0118417"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25799309"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25799309"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Nancy Leslie, Xinjian Wang, Yanyan Peng, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Pathol (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.humpath.2015.09.039"}], "href": "https://doi.org/10.1016/j.humpath.2015.09.039"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26826406"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26826406"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Marie Collet, Zahra Assouline, Damien Bonnet, et al. "}, {"type": "b", "children": [{"type": "t", "text": "High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Hum Genet (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ejhg.2015.264"}], "href": "https://doi.org/10.1038/ejhg.2015.264"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26669660"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26669660"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Joseph P Dewulf, Catherine Barrea, Marie-Françoise Vincent, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Genet Metab (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ymgme.2016.05.005"}], "href": "https://doi.org/10.1016/j.ymgme.2016.05.005"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27233227"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27233227"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "N A Oey, J P N Ruiter, L Ijlst, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Acyl-CoA dehydrogenase 9 (ACAD 9) is the long-chain acyl-CoA dehydrogenase in human embryonic and fetal brain."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2006.05.088"}], "href": "https://doi.org/10.1016/j.bbrc.2006.05.088"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16750164"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16750164"}]}]}]}
Synonyms	NPD002
Proteins	ACAD9_HUMAN
NCBI Gene ID	28976
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

ACAD9 has 5,694 functional associations with biological entities spanning 9 categories (molecular profile, organism, disease, phenotype or trait, functional term, phrase or reference, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 115 datasets.

Click the + buttons to view associations for ACAD9 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

ACAD9 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 ACAD9 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 ACAD9 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 ACAD9 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of ACAD9 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of ACAD9 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 ACAD9 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 ACAD9 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of ACAD9 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 ACAD9 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 ACAD9 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 ACAD9 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with ACAD9 protein from the CCLE Cell Line Proteomics dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of ACAD9 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of ACAD9 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 ACAD9 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 ACAD9 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with ACAD9 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing ACAD9 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing ACAD9 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing ACAD9 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing ACAD9 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 ACAD9 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 ACAD9 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 ACAD9 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 ACAD9 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with ACAD9 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with ACAD9 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with ACAD9 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by ACAD9 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving ACAD9 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with ACAD9 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 ACAD9 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 ACAD9 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with ACAD9 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 ACAD9 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 ACAD9 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of ACAD9 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing ACAD9 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD High Level Gene-Disease Associations	diseases associated with ACAD9 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with ACAD9 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.