ABCD1 Gene

HGNC Family	ATP binding cassette transporters (ABC)
Name	ATP-binding cassette, sub-family D (ALD), member 1
Description	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n The ATP-binding cassette subfamily D member 1 (ABCD1) gene encodes a peroxisomal half‐transporter, commonly known as the adrenoleukodystrophy protein (ALDP). ALDP is essential for the import of very long‐chain fatty acid (VLCFA) CoA‐esters from the cytosol into peroxisomes where they undergo β‐oxidation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Functionally, ALDP operates as a homodimer and, in some contexts, also forms heterodimeric complexes with related peroxisomal half‐transporters such as ALDRP and PMP70, a feature that ensures proper substrate specificity and efficient transport of diverse fatty acyl‐CoA molecules."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Additionally, ALDP interacts with key peroxisomal targeting factors – for example, binding to PEX19 via a conserved motifs that is crucial for its correct membrane localization."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Beyond its canonical role in VLCFA import, emerging evidence indicates that ABCD1 also participates in broader lipid homeostasis. ALDP has been implicated in forming functional contacts between peroxisomes and other organelles; for instance, it forms part of a tethering complex with M1 Spastin that promotes fatty acid transfer from lipid droplets to peroxisomes to limit lipid peroxidation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " In addition, studies using yeast‐based models have highlighted that ALDP exhibits distinct substrate preferences when compared to its homologues, further underscoring its specialized role in cellular lipid metabolism."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Disruption of ABCD1 function – by mutations that compromise protein stability, dimerization, or peroxisomal targeting – impairs the import and subsequent β‐oxidation of VLCFA, resulting in their accumulation. This metabolic defect is central to the pathogenesis of X‐linked adrenoleukodystrophy (X‐ALD), a neurodegenerative disorder that is clinically heterogeneous and characterized by inflammatory demyelination in the nervous system and adrenal insufficiency."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "9", "end_ref": "11"}]}, {"type": "t", "text": " \n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In summary, ABCD1/ALDP is pivotal for VLCFA metabolism by mediating their transport into peroxisomes, thereby safeguarding cellular lipid homeostasis and preventing the toxic accumulation of VLCFAs. Its interactions—ranging from dimerization and complex formation with other half‐transporters to binding with peroxisomal targeting proteins—underscore a multifaceted role that, when disrupted, precipitates the metabolic and neurological manifestations of X‐ALD."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}, {"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Rob Ofman, Inge M E Dijkstra, Carlo W T van Roermund, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "EMBO Mol Med (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/emmm.201000061"}], "href": "https://doi.org/10.1002/emmm.201000061"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20166112"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20166112"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Christoph Wiesinger, Markus Kunze, Günther Regelsberger, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Impaired very long-chain acyl-CoA β-oxidation in human X-linked adrenoleukodystrophy fibroblasts is a direct consequence of ABCD1 transporter dysfunction."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M112.445445"}], "href": "https://doi.org/10.1074/jbc.M112.445445"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23671276"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23671276"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "L X Liu, K Janvier, V Berteaux-Lecellier, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (1999)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.274.46.32738"}], "href": "https://doi.org/10.1074/jbc.274.46.32738"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "10551832"}], "href": "https://pubmed.ncbi.nlm.nih.gov/10551832"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Carlo W T van Roermund, Lodewijk Ijlst, Tom Wagemans, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A role for the human peroxisomal half-transporter ABCD3 in the oxidation of dicarboxylic acids."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochim Biophys Acta (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbalip.2013.12.001"}], "href": "https://doi.org/10.1016/j.bbalip.2013.12.001"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24333844"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24333844"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "André Halbach, Stephan Lorenzen, Christiane Landgraf, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Function of the PEX19-binding site of human adrenoleukodystrophy protein as targeting motif in man and yeast. PMP targeting is evolutionarily conserved."}]}, {"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.M501750200"}], "href": "https://doi.org/10.1074/jbc.M501750200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15781447"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15781447"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "C J Gloeckner, P U Mayerhofer, P Landgraf, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2000)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1006/bbrc.2000.2572"}], "href": "https://doi.org/10.1006/bbrc.2000.2572"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "10777694"}], "href": "https://pubmed.ncbi.nlm.nih.gov/10777694"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Chi-Lun Chang, Aubrey V Weigel, Maria S Ioannou, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Spastin tethers lipid droplets to peroxisomes and directs fatty acid trafficking through ESCRT-III."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biol (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1083/jcb.201902061"}], "href": "https://doi.org/10.1083/jcb.201902061"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31227594"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31227594"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Carlo W T van Roermund, Wouter F Visser, Lodewijk Ijlst, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Differential substrate specificities of human ABCD1 and ABCD2 in peroxisomal fatty acid β-oxidation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochim Biophys Acta (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbalip.2010.11.010"}], "href": "https://doi.org/10.1016/j.bbalip.2010.11.010"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21145416"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21145416"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "M C McGuinness, J-F Lu, H-P Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Role of ALDP (ABCD1) and mitochondria in X-linked adrenoleukodystrophy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Biol (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1128/MCB.23.2.744-753.2003"}], "href": "https://doi.org/10.1128/MCB.23.2.744-753.2003"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12509471"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12509471"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Romana Höftberger, Markus Kunze, Isabelle Weinhofer, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Distribution and cellular localization of adrenoleukodystrophy protein in human tissues: implications for X-linked adrenoleukodystrophy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurobiol Dis (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.nbd.2007.07.007"}], "href": "https://doi.org/10.1016/j.nbd.2007.07.007"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17761426"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17761426"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Ali Tawbeh, Catherine Gondcaille, Doriane Trompier, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Peroxisomal ABC Transporters: An Update."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Mol Sci (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/ijms22116093"}], "href": "https://doi.org/10.3390/ijms22116093"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34198763"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34198763"}]}]}]}
Synonyms	ALD, ABC42, ALDP, AMN
Proteins	ABCD1_HUMAN
NCBI Gene ID	215
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

ABCD1 has 6,975 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 114 datasets.

Click the + buttons to view associations for ABCD1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

ABCD1 Gene

Functional Associations

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

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of ABCD1 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 ABCD1 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 ABCD1 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 ABCD1 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 ABCD1 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 ABCD1 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 ABCD1 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 ABCD1 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 ABCD1 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 ABCD1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with ABCD1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with ABCD1 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 ABCD1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of ABCD1 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 ABCD1 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 ABCD1 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of ABCD1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing ABCD1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing ABCD1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing ABCD1 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 ABCD1 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 ABCD1 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 ABCD1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with ABCD1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with ABCD1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of ABCD1 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 ABCD1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving ABCD1 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving ABCD1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with ABCD1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with ABCD1 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 ABCD1 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 ABCD1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with ABCD1 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 ABCD1 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 ABCD1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of ABCD1 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 ABCD1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with ABCD1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GAD High Level Gene-Disease Associations	diseases associated with ABCD1 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.