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Aliases for ABCD1 Gene

Aliases for ABCD1 Gene

  • ATP Binding Cassette Subfamily D Member 1 2 3 5
  • ATP-Binding Cassette, Sub-Family D (ALD), Member 1 2 3
  • Adrenoleukodystrophy Protein 3 4
  • ALDP 3 4
  • ALD 3 4
  • ATP-Binding Cassette Sub-Family D Member 1 3
  • ABC42 3
  • AMN 3

External Ids for ABCD1 Gene

Previous HGNC Symbols for ABCD1 Gene

  • ALD

Previous GeneCards Identifiers for ABCD1 Gene

  • GC0XP147127
  • GC0XP149445
  • GC0XP150576
  • GC0XP151458
  • GC0XP152511
  • GC0XP152643
  • GC0XP152990
  • GC0XP141647

Summaries for ABCD1 Gene

Entrez Gene Summary for ABCD1 Gene

  • 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]

GeneCards Summary for ABCD1 Gene

ABCD1 (ATP Binding Cassette Subfamily D Member 1) is a Protein Coding gene. Diseases associated with ABCD1 include Adrenoleukodystrophy and Hypoadrenocorticism, Familial. Among its related pathways are Peroxisomal lipid metabolism and alpha-linolenic (omega3) and linoleic (omega6) acid metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and enzyme binding. An important paralog of this gene is ABCD2.

UniProtKB/Swiss-Prot for ABCD1 Gene

  • Probable transporter. The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity.

Gene Wiki entry for ABCD1 Gene

Additional gene information for ABCD1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCD1 Gene

Genomics for ABCD1 Gene

GeneHancer (GH) Regulatory Elements for ABCD1 Gene

Promoters and enhancers for ABCD1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ153721 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +0.7 742 7.2 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 IRF4 POLR2B KLF13 SP3 SP5 ABCD1 BCAP31 PNCK SLC6A8 KRT18P48 PDZD4 PLXNB3
GH0XJ153683 Promoter/Enhancer 1.6 Ensembl ENCODE 16.7 -37.9 -37936 6.5 HDGF ATF1 ZNF2 TCF12 GLIS2 CBX5 ATF7 ZNF263 SP3 REST SLC6A8 PNCK ABCD1 HCFC1 SNORA70 PLXNA3 LOC102723591 PDZD4 RN7SL687P
GH0XJ153884 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE 12.1 +161.3 161254 3 CTCF KLF1 MAX KLF17 ZIC2 RAD21 HIC1 ZFHX2 GATA3 GLIS2 L1CAM RENBP TMEM187 HCFC1 SNORA70 PDZD4 IDH3G SSR4 SRPK3 PLXNB3
GH0XJ153965 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 4.1 +245.7 245665 10 HDGF PKNOX1 CLOCK FOXA2 ARNT ZFP64 SIN3A FEZF1 DMAP1 ZNF2 TMEM187 HCFC1 HCFC1-AS1 SNORA70 SLC10A3 SNORA56 LOC105373387 MAGEA1 ENSG00000234200 DKC1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ABCD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ABCD1 gene promoter:
  • AP-1
  • c-Jun
  • ATF-2
  • ISGF-3
  • SRF
  • SRF (504 AA)
  • AML1a
  • MAZR
  • NRF-2
  • p53

Genomic Locations for ABCD1 Gene

Genomic Locations for ABCD1 Gene
19,912 bases
Plus strand
19,894 bases
Plus strand

Genomic View for ABCD1 Gene

Genes around ABCD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCD1 Gene

Proteins for ABCD1 Gene

  • Protein details for ABCD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    ATP-binding cassette sub-family D member 1
    Protein Accession:
    Secondary Accessions:
    • Q6GTZ2

    Protein attributes for ABCD1 Gene

    745 amino acids
    Molecular mass:
    82937 Da
    Quaternary structure:
    • Can form homodimers and heterodimers with ABCD2/ALDR and ABCD3/PMP70. Dimerization is necessary to form an active transporter. Interacts with PEX19.

neXtProt entry for ABCD1 Gene

Post-translational modifications for ABCD1 Gene

  • Glycosylation at posLast=214214
  • Ubiquitination at posLast=708708
  • Modification sites at PhosphoSitePlus

Other Protein References for ABCD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ABCD1 Gene

Domains & Families for ABCD1 Gene

Gene Families for ABCD1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily.
  • Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily.
genes like me logo Genes that share domains with ABCD1: view

Function for ABCD1 Gene

Molecular function for ABCD1 Gene

UniProtKB/Swiss-Prot Function:
Probable transporter. The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity.
GENATLAS Biochemistry:
ATP-binding cassette superfamily,subfamily D (ALD),member 1,peroxisomal membrane protein,enhancing the association of very long chain acyl-CoA synthethase with the peroxisome

Phenotypes From GWAS Catalog for ABCD1 Gene

Gene Ontology (GO) - Molecular Function for ABCD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity NAS 8441467
GO:0005324 long-chain fatty acid transporter activity IGI,TAS --
GO:0005515 protein binding IPI 10551832
GO:0005524 ATP binding IEA,IDA 11248239
GO:0016887 ATPase activity IDA 11248239
genes like me logo Genes that share ontologies with ABCD1: view
genes like me logo Genes that share phenotypes with ABCD1: view

Human Phenotype Ontology for ABCD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ABCD1 Gene

MGI Knock Outs for ABCD1:

Animal Model Products

CRISPR Products

miRNA for ABCD1 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABCD1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ABCD1 Gene

Localization for ABCD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCD1 Gene

Peroxisome membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABCD1 gene
Compartment Confidence
peroxisome 5
cytosol 5
plasma membrane 3
mitochondrion 3
nucleus 2
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ABCD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 17761426
GO:0005739 mitochondrion IEA --
GO:0005777 peroxisome IDA 9425230
GO:0005778 peroxisomal membrane TAS,IEA --
GO:0005779 integral component of peroxisomal membrane NAS 8441467
genes like me logo Genes that share ontologies with ABCD1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ABCD1 Gene

Pathways & Interactions for ABCD1 Gene

genes like me logo Genes that share pathways with ABCD1: view

Gene Ontology (GO) - Biological Process for ABCD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006635 fatty acid beta-oxidation IGI,IEA 18757502
GO:0007031 peroxisome organization NAS 8441467
GO:0015910 peroxisomal long-chain fatty acid import IGI 18757502
GO:0015919 peroxisomal membrane transport NAS 8441467
GO:0033540 fatty acid beta-oxidation using acyl-CoA oxidase TAS --
genes like me logo Genes that share ontologies with ABCD1: view

No data available for SIGNOR curated interactions for ABCD1 Gene

Drugs & Compounds for ABCD1 Gene

(16) Drugs for ABCD1 Gene - From: ClinicalTrials and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin D3 Approved Nutra Fat-soluble secosteroids 922,916
Ergocalciferol Approved Nutra 1362
Vitamin D Approved, Vet_approved Nutra 1796
Bone Density Conservation Agents Pharma 3652
Ergocalciferols Pharma 1362

(7) Additional Compounds for ABCD1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ABCD1: view

Transcripts for ABCD1 Gene

mRNA/cDNA for ABCD1 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(167) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ABCD1 Gene

ATP-binding cassette, sub-family D (ALD), member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABCD1

Alternative Splicing Database (ASD) splice patterns (SP) for ABCD1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b
SP1: - - -
SP3: -
SP4: - -

Relevant External Links for ABCD1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ABCD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ABCD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ABCD1 Gene

This gene is overexpressed in Testis (22.2), Breast (20.3), and Adrenal (12.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ABCD1 Gene

Protein tissue co-expression partners for ABCD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ABCD1 Gene:


SOURCE GeneReport for Unigene cluster for ABCD1 Gene:


Evidence on tissue expression from TISSUES for ABCD1 Gene

  • Pancreas(4.6)
  • Nervous system(4.4)
  • Liver(4.3)
  • Adrenal gland(2.6)
  • Skin(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ABCD1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • nose
  • pituitary gland
  • skull
  • tongue
  • breast
  • adrenal gland
  • intestine
  • large intestine
  • small intestine
  • ovary
  • penis
  • prostate
  • testicle
  • urinary bladder
  • uterus
  • vagina
  • vulva
  • lower limb
  • upper limb
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with ABCD1: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ABCD1 Gene

Orthologs for ABCD1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ABCD1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ABCD1 33
  • 98.8 (n)
(Ornithorhynchus anatinus)
Mammalia ABCD1 34
  • 94 (a)
(Canis familiaris)
Mammalia ABCD1 34 33
  • 90.05 (n)
(Bos Taurus)
Mammalia ABCD1 34 33
  • 88.48 (n)
(Mus musculus)
Mammalia Abcd1 16 34 33
  • 86.61 (n)
(Rattus norvegicus)
Mammalia Abcd1 33
  • 86.48 (n)
(Monodelphis domestica)
Mammalia ABCD1 34
  • 80 (a)
(Anolis carolinensis)
Reptilia ABCD1 34
  • 72 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia abcd1 33
  • 70.39 (n)
(Danio rerio)
Actinopterygii abcd1 34 33
  • 67.36 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG2316 34 35
  • 47 (a)
(Caenorhabditis elegans)
Secernentea T02D1.5 35
  • 56 (a)
pmp-4 34
  • 51 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PXA1 34
  • 26 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 59 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU01751 33
  • 54.77 (n)
Species where no ortholog for ABCD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ABCD1 Gene

Gene Tree for ABCD1 (if available)
Gene Tree for ABCD1 (if available)
Evolutionary constrained regions (ECRs) for ABCD1: view image

Paralogs for ABCD1 Gene

Paralogs for ABCD1 Gene

(5) SIMAP similar genes for ABCD1 Gene using alignment to 5 proteins:

  • H0Y7L9_HUMAN
  • L8E9C7_HUMAN
genes like me logo Genes that share paralogs with ABCD1: view

Variants for ABCD1 Gene

Sequence variations from dbSNP and Humsavar for ABCD1 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs1055847 benign, Adrenoleukodystrophy 153,744,629(+) G/A 3_prime_UTR_variant, non_coding_transcript_variant
rs1057515814 uncertain-significance, Adrenoleukodystrophy 153,743,745(+) C/A/T 3_prime_UTR_variant, non_coding_transcript_variant
rs1057515815 uncertain-significance, Adrenoleukodystrophy 153,744,147(+) T/C 3_prime_UTR_variant, non_coding_transcript_variant
rs1057515816 uncertain-significance, Adrenoleukodystrophy 153,744,281(+) GGGAGAGGGGAGAGGG/GGGAGAGGG 3_prime_UTR_variant, non_coding_transcript_variant
rs1057515817 uncertain-significance, Adrenoleukodystrophy 153,744,530(+) C/T 3_prime_UTR_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ABCD1 Gene

Variant ID Type Subtype PubMed ID
esv21656 CNV gain+loss 19812545
esv33199 CNV gain+loss 17666407
nsv1129105 CNV duplication 24896259
nsv1141717 CNV duplication 24896259

Variation tolerance for ABCD1 Gene

Residual Variation Intolerance Score: 24.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.77; 16.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABCD1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCD1 Gene

Disorders for ABCD1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for ABCD1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
  • sudanophilic cerebral sclerosis
hypoadrenocorticism, familial
  • adrenal hypoplasia
  • adrenoleukodystrophy
chromosome xq28 deletion syndrome
  • x chromosome, monosomy xq28
deafness, dystonia, and cerebral hypomyelination
  • ddch
- elite association - COSMIC cancer census association via MalaCards
Search ABCD1 in MalaCards View complete list of genes associated with diseases


  • Adrenoleukodystrophy (ALD) [MIM:300100]: A peroxisomal metabolic disorder characterized by progressive multifocal demyelination of the central nervous system and by peripheral adrenal insufficiency (Addison disease). It results in mental deterioration, corticospinal tract dysfunction, and cortical blindness. Different clinical manifestations exist like: cerebral childhood ALD (CALD), adult cerebral ALD (ACALD), adrenomyeloneuropathy (AMN) and Addison disease only (ADO) phenotype. {ECO:0000269 PubMed:10369742, ECO:0000269 PubMed:10480364, ECO:0000269 PubMed:10551832, ECO:0000269 PubMed:10737980, ECO:0000269 PubMed:10980539, ECO:0000269 PubMed:11248239, ECO:0000269 PubMed:11438993, ECO:0000269 PubMed:11810273, ECO:0000269 PubMed:15643618, ECO:0000269 PubMed:21700483, ECO:0000269 PubMed:21889498, ECO:0000269 PubMed:23651979, ECO:0000269 PubMed:26686776, ECO:0000269 PubMed:7581394, ECO:0000269 PubMed:7717396, ECO:0000269 PubMed:7825602, ECO:0000269 PubMed:7849723, ECO:0000269 PubMed:7904210, ECO:0000269 PubMed:8040304, ECO:0000269 PubMed:8566952, ECO:0000269 PubMed:8651290, ECO:0000269 PubMed:9452087}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=The promoter region of ABCD1 is deleted in the chromosome Xq28 deletion syndrome which involves ABCD1 and the neighboring gene BCAP31. {ECO:0000269 PubMed:11992258}.

Additional Disease Information for ABCD1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ABCD1: view

No data available for Genatlas for ABCD1 Gene

Publications for ABCD1 Gene

  1. Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy. (PMID: 15643618) Montagna G … Santorelli FM (Human mutation 2005) 3 4 22 58
  2. Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. (PMID: 11992258) Corzo D … Steinberg SJ (American journal of human genetics 2002) 3 4 22 58
  3. Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters. (PMID: 11248239) Roerig P … Gärtner J (FEBS letters 2001) 3 4 22 58
  4. Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange. (PMID: 11438993) Dvoráková L … Berger J (Human mutation 2001) 3 4 22 58
  5. ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations. (PMID: 11748843) Kemp S … Moser HW (Human mutation 2001) 3 4 22 58

Products for ABCD1 Gene

Sources for ABCD1 Gene

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