ABCD1 Gene (Protein Coding)

ATP Binding Cassette Subfamily D Member 1

GC0XP153724
GIFtS:
47
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... See more...

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
  • ATP-Binding Cassette Sub-Family D Member 1 3 4
  • Adrenoleukodystrophy Protein 3 4
  • ALDP 3 4
  • ALD 3 4
  • EC 7.6.2.4 4
  • 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 Summary for ABCD1 Gene

  • Plays a role in the transport of free very-long-chain fatty acids (VLCFAs) as well as their CoA-esters across the peroxisomal membrane by acting as an ATP-specific binding subunit releasing ADP after ATP hydrolysis (PubMed:15682271, PubMed:11248239, PubMed:16946495). Thus, plays a role in regulation of VLCFAs and energy metabolism namely, in the degradation and biosynthesis of fatty acids by beta-oxidation, mitochondrial function and microsomal fatty acid elongation (PubMed:23671276). Involved in several processes; namely, controls the active myelination phase by negatively regulating the microsomal fatty acid elongation activity and may also play a role in axon and myelin maintenance. Controls also the cellular response to oxidative stress by regulating mitochondrial function like, mitochondrial oxidative phosphorylation and depolarization. And finally controls the inflammatory response by positively regulating peroxisomal beta-oxidation of VLCFAs (By similarity).

Gene Wiki entry for ABCD1 Gene

Additional gene information for ABCD1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABCD1 Gene

Genomics for ABCD1 Gene

GeneHancer (GH) Regulatory Elements for ABCD1 Gene

Promoters and enhancers for ABCD1 Gene
- 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

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ABCD1

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

Genomic Locations for ABCD1 Gene

Genomic Locations for ABCD1 Gene
chrX:153,724,851-153,744,762
(GRCh38/hg38)
Size:
19,912 bases
Orientation:
Plus strand
chrX:152,990,323-153,010,216
(GRCh37/hg19)
Size:
19,894 bases
Orientation:
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 Structure • Gene Density

RefSeq DNA sequence for ABCD1 Gene

Proteins for ABCD1 Gene

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

    Protein Symbol:
    P33897-ABCD1_HUMAN
    Recommended name:
    ATP-binding cassette sub-family D member 1
    Protein Accession:
    P33897
    Secondary Accessions:
    • Q6GTZ2

    Protein attributes for ABCD1 Gene

    Size:
    745 amino acids
    Molecular mass:
    82937 Da
    Quaternary structure:
    • Can form homooligomers, homodimers and heterodimers with ABCD2/ALDR and ABCD3/PMP70. Dimerization is necessary to form an active transporter (PubMed:17609205, PubMed:10551832). Interacts with PEX19; facilitates ABCD1 insertion into the peroxisome membrane (PubMed:10777694, PubMed:10704444).

neXtProt entry for ABCD1 Gene

Protein Expression for ABCD1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ABCD1 Gene

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

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

Protein Domains for ABCD1 Gene

Blocks:
  • ABC transporter, N-terminal
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ABCD1 Gene

GenScript: Design optimal peptide antigens:
  • Adrenoleukodystrophy protein (ABCD1_HUMAN)
  • Mutant ATP-binding cassette sub-family D member 1 (Q2PRN6_HUMAN)
  • Mutant adrenoleukodystrophy protein (Q6TGM0_HUMAN)
  • Mutant adrenoleukodystrophy protein (Q6TGM1_HUMAN)
  • Mutant adrenoleukodystrophy protein (Q6TGM2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P33897

UniProtKB/Swiss-Prot:

ABCD1_HUMAN :
  • The NH2-terminal transmembrane domaine (TMD) is involved in the recognition of substrates, and undergoes a conformational change upon ATP binding to the COOH-terminal nucleotide binding domain (NBD).
  • Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily.
Domain:
  • The NH2-terminal transmembrane domaine (TMD) is involved in the recognition of substrates, and undergoes a conformational change upon ATP binding to the COOH-terminal nucleotide binding domain (NBD).
Family:
  • 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

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Molecular function for ABCD1 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the transport of free very-long-chain fatty acids (VLCFAs) as well as their CoA-esters across the peroxisomal membrane by acting as an ATP-specific binding subunit releasing ADP after ATP hydrolysis (PubMed:15682271, PubMed:11248239, PubMed:16946495). Thus, plays a role in regulation of VLCFAs and energy metabolism namely, in the degradation and biosynthesis of fatty acids by beta-oxidation, mitochondrial function and microsomal fatty acid elongation (PubMed:23671276). Involved in several processes; namely, controls the active myelination phase by negatively regulating the microsomal fatty acid elongation activity and may also play a role in axon and myelin maintenance. Controls also the cellular response to oxidative stress by regulating mitochondrial function like, mitochondrial oxidative phosphorylation and depolarization. And finally controls the inflammatory response by positively regulating peroxisomal beta-oxidation of VLCFAs (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an acyl-CoA(out) + ATP + H2O = ADP + an acyl-CoA(in) + H(+) + phosphate; Xref=Rhea:RHEA:15181, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:58342, ChEBI:CHEBI:456216; EC=7.6.2.4; Evidence={ECO:0000269 PubMed:11248239, ECO:0000269 PubMed:15682271, ECO:0000269 PubMed:16946495};.
UniProtKB/Swiss-Prot Induction:
Up-regulated by degradation or export of cholesterol.
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

Enzyme Numbers (IUBMB) for ABCD1 Gene

Phenotypes From GWAS Catalog for ABCD1 Gene

Gene Ontology (GO) - Molecular Function for ABCD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005324 long-chain fatty acid transporter activity IGI,EXP 18757502
GO:0005515 protein binding IPI 10551832
GO:0005524 ATP binding IDA,IEA 11248239
GO:0015607 fatty-acyl-CoA transmembrane transporter activity IGI 18757502
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

miRTarBase miRNAs that target ABCD1

Inhibitory RNA Products

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

No data available for 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. Mitochondrion membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
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
mitochondrion 5
peroxisome 5
endoplasmic reticulum 5
cytosol 5
lysosome 5
plasma membrane 3
nucleus 2
extracellular 1
cytoskeleton 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:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IDA,IEA 16946495
GO:0005777 peroxisome IEA,IDA 9425230
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:0002082 regulation of oxidative phosphorylation IEA,ISS --
GO:0006635 fatty acid beta-oxidation IMP,IEA 23671276
GO:0007031 peroxisome organization NAS 8441467
GO:0015910 peroxisomal long-chain fatty acid import IGI 18757502
GO:0015916 fatty-acyl-CoA transport IEA --
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

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(19) 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 1053,1044
Calcium Approved Nutra 7884
Ergocalciferol Approved Nutra 1534
Vitamin D Approved, Vet_approved Nutra 2068
Calciferol Pharma 2163

(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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
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mRNA/cDNA for ABCD1 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

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: - - -
SP2:
SP3: -
SP4: - -
SP5:

Relevant External Links for ABCD1 Gene

GeneLoc Exon Structure for
ABCD1

Expression for ABCD1 Gene

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

mRNA expression in normal human tissues for ABCD1 Gene
mRNA expression by BioGPS for ABCD1 GenemRNA expression by GTEx 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ABCD1

SOURCE GeneReport for Unigene cluster for ABCD1 Gene:

Hs.159546

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
Systems:
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • nose
  • pituitary gland
  • skull
  • tongue
Thorax:
  • breast
Abdomen:
  • adrenal gland
  • intestine
  • large intestine
  • small intestine
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • lower limb
  • upper limb
General:
  • 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
chimpanzee
(Pan troglodytes)
 Mammalia ABCD1 30
  • 98.8 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia ABCD1 31
  • 94 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia ABCD1 31 30
  • 90.05 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia ABCD1 31 30
  • 88.48 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Abcd1 17 31 30
  • 86.61 (n)
rat
(Rattus norvegicus)
 Mammalia Abcd1 30
  • 86.48 (n)
oppossum
(Monodelphis domestica)
 Mammalia ABCD1 31
  • 80 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia ABCD1 31
  • 72 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia abcd1 30
  • 70.39 (n)
zebrafish
(Danio rerio)
 Actinopterygii abcd1 31 30
  • 67.36 (n)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta CG2316 31 32
  • 47 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea T02D1.5 32
  • 56 (a)
pmp-4 31
  • 51 (a)
 OneToMany
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes PXA1 31
  • 26 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 59 (a)
 OneToMany
bread mold
(Neurospora crassa)
 Ascomycetes NCU01751 30
  • 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

ENSEMBL:
Gene Tree for ABCD1 (if available)
TreeFam:
Gene Tree for ABCD1 (if available)
Aminode:
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:

  • ABCD1_HUMAN
  • A6NEP8_HUMAN
  • H0Y7L9_HUMAN
  • L8E9C7_HUMAN
  • Q2PRN6_HUMAN

Pseudogenes.org Pseudogenes for ABCD1 Gene

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

Variants for ABCD1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ABCD1 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
625214 Likely Pathogenic: Intellectual disability 153,726,120(+) G/A MISSENSE_VARIANT
635562 Pathogenic: Adrenoleukodystrophy 153,740,228(+) TC/T FRAMESHIFT_VARIANT
639983 Uncertain Significance: Adrenoleukodystrophy 153,725,474(+) G/A MISSENSE_VARIANT
640330 Pathogenic: Adrenoleukodystrophy 153,736,130(+) A/AGGCAGCCT FRAMESHIFT_VARIANT
640760 Uncertain Significance: Adrenoleukodystrophy 153,743,685(+) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for ABCD1 Gene

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)
ABCD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABCD1

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

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

Disorder Aliases PubMed IDs
adrenoleukodystrophy
  • sudanophilic cerebral sclerosis
hypoadrenocorticism, familial
  • adrenal hypoplasia
deafness, dystonia, and cerebral hypomyelination
  • ddch
adrenomyeloneuropathy
  • adrenoleukodystrophy
peroxisomal disease
  • peroxisomal disorder
- elite association - COSMIC cancer census association via MalaCards
Search ABCD1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ABCD1_HUMAN
  • 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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. Live cell FRET microscopy: homo- and heterodimerization of two human peroxisomal ABC transporters, the adrenoleukodystrophy protein (ALDP, ABCD1) and PMP70 (ABCD3). (PMID: 17609205) Hillebrand M … Gärtner J (The Journal of biological chemistry 2007) 3 4 23 54
  2. ATP-binding and -hydrolysis activities of ALDP (ABCD1) and ALDRP (ABCD2), human peroxisomal ABC proteins, overexpressed in Sf21 cells. (PMID: 16946495) Morita M … Imanaka T (Biological & pharmaceutical bulletin 2006) 3 4 23 54
  3. Probing substrate-induced conformational alterations in adrenoleukodystrophy protein by proteolysis. (PMID: 15682271) Guimarães CP … Azevedo JE (Journal of human genetics 2005) 3 4 23 54
  4. 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 23 54
  5. Function of the PEX19-binding site of human adrenoleukodystrophy protein as targeting motif in man and yeast. PMP targeting is evolutionarily conserved. (PMID: 15781447) Halbach A … Rottensteiner H (The Journal of biological chemistry 2005) 3 4 23 54

ExternalLinks

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