SLC25A20 Gene

HGNC Family	Solute carriers (SLC)
Name	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
Description	This gene product is one of several closely related mitochondrial-membrane carrier proteins that shuttle substrates between cytosol and the intramitochondrial matrix space. This protein mediates the transport of acylcarnitines into mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway. Mutations in this gene are associated with carnitine-acylcarnitine translocase deficiency, which can cause a variety of pathological conditions such as hypoglycemia, cardiac arrest, hepatomegaly, hepatic dysfunction and muscle weakness, and is usually lethal in new born and infants. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nThe gene SLC25A20 encodes the mitochondrial carnitine‐acylcarnitine translocase (CACT), a critical transporter responsible for exchanging acylcarnitine esters with free carnitine across the inner mitochondrial membrane. This transport is essential for delivering long‐chain fatty acids into the mitochondrial matrix where β‐oxidation takes place, making CACT pivotal for energy production during fasting and other catabolic conditions. Defects in SLC25A20—whether due to splicing errors or amino acid substitutions in evolutionarily conserved regions—give rise to CACT deficiency, a recessively inherited disorder that clinically presents with hypoketotic hypoglycemia, cardiomyopathy, liver failure, muscle weakness, and other life‐threatening metabolic emergencies."}, {"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": "\nBeyond its fundamental transport role, detailed molecular and structural analyses have elucidated key residues and domains that govern the conformational changes and substrate binding necessary for efficient acylcarnitine/carnitine exchange. Site‐directed mutagenesis and kinetic studies have pinpointed specific amino acids whose alteration can diminish antiport activity, emphasizing their functional significance. Moreover, the regulation of SLC25A20 expression is intricately controlled at the transcriptional level—by nuclear receptors such as PPARα as well as transcription factors including FOXA and Sp1—and is further modulated by microRNAs, all of which contribute to both normal metabolic flexibility and the metabolic reprogramming observed in diseases such as prostate cancer."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "6", "end_ref": "12"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn light of the severe clinical outcomes associated with CACT deficiency, therapeutic strategies have focused on bypassing the block in long‐chain fatty acid oxidation. Treatments such as carnitine supplementation and diets enriched in medium‐chain triglycerides (MCT) have been shown to mitigate the build‐up of toxic acylcarnitine species and improve metabolic profiles. Parallel experimental models have further delineated how altered expression of SLC25A20 affects the balance between acylcarnitines and acyl‐CoAs, providing insights into novel intervention points aimed at restoring metabolic homeostasis in affected patients."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "13", "end_ref": "17"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Vito Iacobazzi, Marzia Pasquali, Rani Singh, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.20573"}], "href": "https://doi.org/10.1002/ajmg.a.20573"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15057979"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15057979"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Vito Iacobazzi, Federica Invernizzi, Silvia Baratta, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.20085"}], "href": "https://doi.org/10.1002/humu.20085"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15365988"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15365988"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "G Pierre, A Macdonald, G Gray, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Prospective treatment in carnitine-acylcarnitine translocase deficiency."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Inherit Metab Dis (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10545-007-0518-x"}], "href": "https://doi.org/10.1007/s10545-007-0518-x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17508264"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17508264"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "J Ramon De Lucas, Cesare Indiveri, Annamaria Tonazzi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Functional characterization of residues within the carnitine/acylcarnitine translocase RX2PANAAXF distinct motif."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Membr Biol (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1080/09687680701697476"}], "href": "https://doi.org/10.1080/09687680701697476"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18307102"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18307102"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Paulo Gaspar, Gabriela Moura, Manuel A S Santos, et al. "}, {"type": "b", "children": [{"type": "t", "text": "mRNA secondary structure optimization using a correlated stem-loop prediction."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nucleic Acids Res (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/nar/gks1473"}], "href": "https://doi.org/10.1093/nar/gks1473"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23325845"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23325845"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Gianfranco Peluso, Orsolina Petillo, Sabrina Margarucci, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Differential carnitine/acylcarnitine translocase expression defines distinct metabolic signatures in skeletal muscle cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Physiol (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/jcp.20239"}], "href": "https://doi.org/10.1002/jcp.20239"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15515015"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15515015"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Keisuke Tachibana, Kentaro Takeuchi, Hirohiko Inada, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Regulation of the human SLC25A20 expression by peroxisome proliferator-activated receptor alpha in human hepatoblastoma cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2009.09.018"}], "href": "https://doi.org/10.1016/j.bbrc.2009.09.018"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19748481"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19748481"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Paolo Convertini, Vittoria Infantino, Faustino Bisaccia, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Role of FOXA and Sp1 in mitochondrial acylcarnitine carrier gene expression in different cell lines."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2010.11.126"}], "href": "https://doi.org/10.1016/j.bbrc.2010.11.126"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21130740"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21130740"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Brian York, Erin L Reineke, Jørn V Sagen, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Inhibition of the Mitochondrial Carnitine/Acylcarnitine Carrier by Itaconate through Irreversible Binding to Cysteine 136: Possible Pathophysiological Implications."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biomolecules (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/biom13060993"}], "href": "https://doi.org/10.3390/biom13060993"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "37371573"}], "href": "https://pubmed.ncbi.nlm.nih.gov/37371573"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Qinghua Zhang, Xuan Feng, Xing Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "[Clinical and genetic analysis of two pedigrees affected with Carnitine-acylcarnitine translocase deficiency due to variant of SLC25A20 gene]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Zhonghua Yi Xue Yi Chuan Xue Za Zhi (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3760/cma.j.cn511374-20220721-00482"}], "href": "https://doi.org/10.3760/cma.j.cn511374-20220721-00482"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "38565514"}], "href": "https://pubmed.ncbi.nlm.nih.gov/38565514"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Nicola Giangregorio, Lara Console, Annamaria Tonazzi, et al. 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Synonyms	CACT
Proteins	MCAT_HUMAN
NCBI Gene ID	788
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

SLC25A20 has 6,152 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 126 datasets.

Click the + buttons to view associations for SLC25A20 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

SLC25A20 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 SLC25A20 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 SLC25A20 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 SLC25A20 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 SLC25A20 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 SLC25A20 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 SLC25A20 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 SLC25A20 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 SLC25A20 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 SLC25A20 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 SLC25A20 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of SLC25A20 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of SLC25A20 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 SLC25A20 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with SLC25A20 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with SLC25A20 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 SLC25A20 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of SLC25A20 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 SLC25A20 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 SLC25A20 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with SLC25A20 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of SLC25A20 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing SLC25A20 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing SLC25A20 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing SLC25A20 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 SLC25A20 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 SLC25A20 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 SLC25A20 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with SLC25A20 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with SLC25A20 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with SLC25A20 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of SLC25A20 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 SLC25A20 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving SLC25A20 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with SLC25A20 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 SLC25A20 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 SLC25A20 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 SLC25A20 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with SLC25A20 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	DrugBank Drug Targets	interacting drugs for SLC25A20 protein from the curated DrugBank Drug Targets dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at SLC25A20 gene from the ENCODE Histone Modification Site Profiles dataset.