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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ABCD1 Gene

protein-coding   GIFtS: 66
GCID: GC0XP152990

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


(Previous symbol: ALD)
 Explore 33 diseases affiliated with
ABCD1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ABCD1    

Aliases
for ABCD1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
ATP-Binding Cassette, Sub-Family D (ALD), Member 11 2     Adrenoleukodystrophy Protein2 3
ALD1 2 3 5     Adrenoleukodystrophy1
ALDP1 2 3     ABC422
AMN1 2 5     ATP-Binding Cassette Sub-Family D Member 12

External Ids:    HGNC: 611   Entrez Gene: 2152   Ensembl: ENSG000001019867   OMIM: 3003715   UniProtKB: P338973   

Export aliases for ABCD1 gene to outside databases

Previous GC identifers: GC0XP147127 GC0XP149445 GC0XP150576 GC0XP151458 GC0XP152511 GC0XP152643 GC0XP141647


Summaries
for ABCD1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for ABCD1:
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)

UniProtKB/Swiss-Prot: ABCD1_HUMAN, P33897
Function: Probable transporter. The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity

Gene Wiki entry for ABCD1


Genomic Views
for ABCD1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_167198.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ABCD1 gene promoter:
         SRF   ISGF-3   p53   MAZR   AML1a   AP-1   SRF (504 AA)   ATF-2   NRF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ABCD1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ABCD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABCD1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

ABCD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABCD1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP152990:  view genomic region     (about GC identifiers)

Start:
 152,990,323 bp from pter      End:
 153,010,216 bp from pter
Size:
 19,894 bases      Orientation:
 plus strand

Proteins
for ABCD1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: ABCD1_HUMAN, P33897 (See protein sequence)
Recommended Name: ATP-binding cassette sub-family D member 1  
Size: 745 amino acids; 82937 Da
Subunit: Can form homodimers and heterodimers with ABCD2/ALDR and ABCD3/PMP70. Dimerization is necessary to form an
active transporter. Interacts with PEX19
Subcellular location: Peroxisome membrane; Multi-pass membrane protein
Secondary accessions: Q6GTZ2

Explore the universe of human proteins at neXtProt for ABCD1: NX_P33897

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P33897

    • ABCD1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000024.2  
    ENSEMBL proteins: 
     ENSP00000218104   ENSP00000359147   ENSP00000413695  
    Reactome Protein details: P33897
    Human Recombinant Protein Products: 
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    Uscn Proteins for ABCD1

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA17761426
    GO:0005739mitochondrion IEA--
    GO:0005777peroxisome IDA17542813
    GO:0005778peroxisomal membrane TAS--
    GO:0005779integral to peroxisomal membrane NAS8441467


    ABCD1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ABCD1

    Protein Domains /
    Families
    for ABCD1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ABCD1 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR010509 ABC_Ald_N
     IPR003439 ABC_transporter-like
     IPR003593 AAA+_ATPase
     IPR017940 ABC_transporter_type1
     IPR017871 ABC_transporter_CS

    Graphical View of Domain Structure for InterPro Entry P33897

    ProtoNet protein and cluster: P33897

    1 Blocks protein family: IPB010509 ABC transporter

    UniProtKB/Swiss-Prot: ABCD1_HUMAN, P33897
    Similarity: Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC
    3.A.1.203) subfamily
    Similarity: Contains 1 ABC transmembrane type-1 domain
    Similarity: Contains 1 ABC transporter domain


    Function
    for ABCD1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: ABCD1_HUMAN, P33897
    Function: Probable transporter. The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity

         Genatlas biochemistry entry for ABCD1:
    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

    miRNA
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    8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate ABCD1 (see all 16):
    hsa-miR-3607-5p hsa-miR-323b-3p hsa-miR-1271 hsa-miR-449a hsa-miR-124 hsa-miR-9 hsa-miR-558 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmid: ABCD1 3' UTR sequence
    Inhib. RNA
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ABCD1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for ABCD1

    Clone
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    Cell Line
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    In Situ Assay
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    Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity NAS8441467
    GO:0005325peroxisomal fatty-acyl-CoA transporter activity TAS--
    GO:0005515protein binding IPI10551832
    GO:0005524ATP binding IDA11248239
    GO:0016887ATPase activity IDA11248239


    ABCD1 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for ABCD1:
     Decreased Salmonella enterica   Decreased influenza A virus in 

    Animal Models:
         Mouse knock-outs for ABCD1: Abcd1tm1Ymd Abcd1tm1Kan Abcd1tm1Kds
         10 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Abcd1):
     behavior/neurological  endocrine/exocrine gland  hematopoietic system  homeostasis/metabolism  immune system 
     nervous system  normal  other  reproductive system  vision/eye 

    ABCD1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ABCD1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1alpha-linolenic (omega3) and linoleic (omega6) acid metabolism
    		alpha-linolenic (omega3) and linoleic (omega6) acid metabolism1.00
    		Linoleic acid (LA) metabolism0.55
    		alpha-linolenic acid (ALA) metabolism1.00
    		Beta-oxidation of very long chain fatty acids0.42
    2ABC-family proteins mediated transport
    		ABC-family proteins mediated transport1.00
    		ABCA transporters in lipid homeostasis0.47
    		ABC transporters0.70
    3Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    4Peroxisome
    		Peroxisome1.00
    5Peroxisomal lipid metabolism
    		Peroxisomal lipid metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/10        Reactome Pathways for ABCD1 (see all 10)
        Beta-oxidation of very long chain fatty acids
    Metabolism
    Peroxisomal lipid metabolism
    alpha-linolenic acid (ALA) metabolism
    ABC-family proteins mediated transport


    2         Kegg Pathways  (Kegg details for ABCD1):
        ABC transporters
    Peroxisome


    ABCD1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ABCD1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/10 Interacting proteins for ABCD1 (P338971, 2, 3 ENSP000002181044) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABCD3P282881, 3, ENSP000003592334EBI-81045,EBI-80992 I2D: score=5 STRING: ENSP00000359233
    PEX19P408552, 3, ENSP000003570514MINT-7995876 MINT-7995890 MINT-7995670 I2D: score=4 STRING: ENSP00000357051
    ABCD2Q9UBJ23, ENSP000003106884I2D: score=4 STRING: ENSP00000310688
    POT1Q9NUX53, ENSP000003502494I2D: score=1 STRING: ENSP00000350249
    TERF2Q155543, ENSP000002549424I2D: score=1 STRING: ENSP00000254942
    About this table

    Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006200ATP catabolic process IDA11248239
    GO:0006635fatty acid beta-oxidation IGI18757502
    GO:0006810transport ----
    GO:0007031peroxisome organization NAS8441467
    GO:0015910peroxisomal long-chain fatty acid import IGI18757502


    ABCD1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ABCD1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ABCD1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ABCD1
    10/13 Novoseek chemical compound relationships for ABCD1 gene (see all 13)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lignoceric acid 74.3 4 9007322 (2), 9799802 (1)
    fatty acid 64.2 21 2015112 (2), 18491823 (1), 9051655 (1), 16223892 (1) (see all 14)
    acyl-coa 56.9 3 9173925 (2), 10068511 (1)
    lovastatin 54.8 1 9600263 (1)
    manganese superoxide 22.3 1 16319717 (1)
    atp 17.9 18 16946495 (3), 12530690 (2), 11248239 (2), 9425230 (1) (see all 10)
    lipid 10.7 4 17973979 (1), 2015112 (1), 17881773 (1), 17532287 (1)
    palmitate 8.22 2 2015112 (2)
    cholesterol 0 2 16213491 (1), 17881773 (1)
    forskolin 0 1 9610777 (1)

    Search CenterWatch for drugs/clinical trials and news about ABCD1 

    Transcripts
    for ABCD1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for ABCD1 gene: 
    NM_000033.3  

    Unigene Cluster for ABCD1:

    ATP-binding cassette, sub-family D (ALD), member 1
    Hs.159546  [show with all ESTs]
    Unigene Representative Sequence: NM_000033
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000218104(uc004fif.2) ENST00000370129 ENST00000443684

    miRNA
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    hsa-miR-3607-5p hsa-miR-323b-3p hsa-miR-1271 hsa-miR-449a hsa-miR-124 hsa-miR-9 hsa-miR-558 hsa-miR-506
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    Inhib. RNA
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    Additional cDNA sequence: 

    AY421736.1 AY421737.1 AY421738.1 BC015541.1 BC025358.1 Z21876.1 

    9 DOTS entries:

    DT.100775286  DT.438401  DT.91751960  DT.97780533  DT.99946409  DT.100698232  DT.121309356  DT.121309416 
    DT.95174234 

    24/167 AceView cDNA sequences (see all 167):

    BQ945290 BQ051707 BQ952022 BX379103 BX281679 BQ002137 AA617973 CR599919 
    BX382184 BE280899 D31532 BE546548 BM744752 BM743389 BF111256 CA395588 
    BC015541 BQ233874 BM459113 BQ689178 NM_000033 BU188300 CR590818 BC025358 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ABCD1    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b
    SP1:                                -     -                 -                                                   
    SP2:                                                                                                            
    SP3:                                                        -                                                   
    SP4:                                      -                 -                                                   
    SP5:                                                                                                            


    ECgene alternative splicing isoforms for ABCD1

    Expression
    for ABCD1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ABCD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTCCCAGCTC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ABCD1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Definitive endoderm-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ABCD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ABCD1

    SOURCE GeneReport for Unigene cluster: Hs.159546
        SABiosciences Expression via Pathway-Focused PCR Array including ABCD1: 
              Drug Transporters in human mouse rat

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    In Situ
    Assay Products:     
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    Orthologs
    for ABCD1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for ABCD1 gene from 7/26 species (see all 26)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia ABCD16
    		 --
    		 78(a)
    		 1 ↔ 1
    		 2(86749348-86764724)
    zebrafish
    (Danio rerio)    		 Actinopterygii abcd11 ATP-binding cassette, sub-family D (ALD), member 1 67.82(n)
    69.9(a)    		   566367  NM_001111186.1  NP_001104656.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG23163 ATP-binding cassette (ABC) transporter 53(a)   102B1   --
    worm
    (Caenorhabditis elegans)    		 Secernentea T02D1.53 ABC transporters 56(a)   IV(17402732-17405778)   --
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT1G543506
    PED36
    		 ABC transporter D family member 1
    		 21(a)
    14(a)
    		 possible ortholog
    possible ortholog
    		 1(20286882-20290401)
    4(18488437-18497136)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 3)    		 ABC transporter, ATP-binding protein, putative, ex...
    ABC transporter, ATP-binding protein, putative, ex...
    (see all 3)    		 19(a)
    17(a)
    (see all 3)    		 possible ortholog
    possible ortholog
    (see all 3)    		 1(6499706-6506149)
    5(421032-431736)
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria yddA6
    		 fused predicted multidrug transporter subunits of ...
    		 18(a)
    		 1 → many
    		 Chromosome(1575681-1577366)


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

    Paralogs
    for ABCD1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ABCD1 gene
    ABCD32  ABCD42  ABCD22  
    5 SIMAP similar genes for ABCD1 using alignment to 5 protein entries:     ABCD1_HUMAN (see all proteins):
    ALD    ABCD2    ABCB4    ABCD4    ABCD3

    ABCD1 for paralogs           About GeneDecksing


    4 Pseudogenes.org Pseudogenes for ABCD1
    PGOHUM00000238740 PGOHUM00000259051 PGOHUM00000246377 PGOHUM00000240771


    Genomic Variants
    for ABCD1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/350 NCBI SNPs in ABCD1 are shown (see all 350)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs40106131,2
    		Cpathogenic153008509(+) TGGCCC/TGCATG 2 R C mis10--------
    rs111468421,2
    		C,F,Apathogenic153008510(+) GGCCCG/ACATGT 2 /H /R mis13Minor allele frequency- A:0.33NA 6
    rs743152811,2
    		Cuntested153008759(+) GACGCA/GGGCAT 2 A syn10--------
    rs1928909351,2
    		--152988424(+) TCATGA/TCGAAG 5 -- int1 us2k10--------
    rs41480291,2
    		C,F,H,--152988564(+) GCACAG/AGCACC 5 -- int1 us2k110Minor allele frequency- A:0.08NS EA NA 1414
    rs1875316641,2
    		--152988844(+) CCTGAA/CCCCCT 5 -- us2k1 int10--------
    rs1441619721,2
    		--152988898(+) TCCACG/TCGGCA 5 -- us2k1 int10--------
    rs1923889641,2
    		--152989197(+) CCAGGC/TAGGCC 5 -- ut51 us2k1 int10--------
    rs1849804061,2
    		--152989300(+) TCCAGC/TGGCCT 5 -- us2k1 int1 ut510--------
    rs1890609791,2
    		--152989346(+) GGCCCA/GCAAGA 5 -- ut51 us2k1 int10--------

    HapMap Linkage Disequilibrium report for ABCD1 (152990323 - 153010216 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for ABCD1
         2 CNVs: 74082 74084
    Human Gene Mutation Database (HGMD): ABCD1

    Locus Specific Mutation Databases (LSDB): ABCD1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ABCD1
    DNA2.0 Custom Variant and Variant Library Synthesis for ABCD1

    Disorders / Diseases
    for ABCD1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ABCD1 for disorders           About GeneDecksing

    OMIM gene information: 300371   
    OMIM disorders: 300100  
    UniProtKB/Swiss-Prot: ABCD1_HUMAN, P33897
  • Defects in ABCD1 are the cause of adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]. X-ALD is 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
  • Note=The promoter region of ABCD1 is deleted in the chromosome Xq28 deletion syndrome which involves ABCD1 and
    • the neighboring gene BCAP31

    20/33 diseases for ABCD1 (see all 33):    About MalaCards
    adrenoleukodystrophy    peroxisomal biogenesis disorder    peroxisome biogenesis disorders    adrenomyeloneuropathy
    spastic paraparesis    cortical blindness    addison's disease    metabolic disorders
    spinocerebellar degeneration    tangier disease    peroxisomal disease    zellweger syndrome
    multiple sclerosis    neurodegenerative disease    hemophilia    spasticity
    renal cell carcinoma    leukodystrophy    bipolar disorder    protein s deficiency

    2 diseases from the University of Copenhagen DISEASES database for ABCD1:
    Adrenoleukodystrophy     Peroxisomal disease

    9 Novoseek disease relationships for ABCD1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adrenoleukodystrophy 98.7 199 16087056 (3), 17662307 (3), 17609205 (3), 8892025 (2) (see all 99)
    peroxisomal disorders 91.4 9 15643618 (1), 18491823 (1), 9195223 (1), 19406244 (1) (see all 8)
    demyelination 72.4 7 9173925 (2), 9195223 (1), 10319888 (1), 17532287 (1) (see all 6)
    demyelinating diseases 68.2 15 9607414 (1), 8577752 (1), 11706205 (1), 9266848 (1) (see all 10)
    adrenal dysfunction 60.4 1 17202797 (1)
    addisons disease 59.8 3 17532287 (2), 7717396 (1)
    neurodegenerative diseases 58.1 17 17686565 (1), 18973459 (1), 11422379 (1), 11063720 (1) (see all 11)
    metabolic disorder 19.6 4 18723473 (2)
    multiple sclerosis 0 1 11688182 (1)

    GeneTests: ABCD1
    Adrenoleukodystrophy, X-Linked

    Human Genome Epidemiology (HuGE) Navigator: ABCD1 (4 documents)

    Export disorders for ABCD1 gene to outside databases

    Publications
    for ABCD1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ABCD1 gene, integrated from 9 sources (see all 200):
    (articles sorted by number of sources associating them with ABCD1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. (PubMed id 8441467)1, 2, 3 Mosser J.... Aubourg P. (1993)
    2. Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy. (PubMed id 8651290)1, 2, 9 Feigenbaum V.... Aubourg P. (1996)
    3. Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. (PubMed id 11992258)1, 2, 9 Corzo D.... Steinberg S.J. (2002)
    4. Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP. (PubMed id 11810273)1, 2, 9 Guimaraes C.P....Azevedo J.E. (2001)
    5. Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: the first polymorphism causing an amino acid exchange. (PubMed id 11438993)1, 2, 9 Dvorakova L.... Berger J. (2001)
    6. Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters. (PubMed id 11248239)1, 2, 9 Roerig P.... Gaertner J. (2001)
    7. Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy. (PubMed id 15643618)1, 2, 9 Montagna G.... Santorelli F.M. (2005)
    8. ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations. (PubMed id 11748843)1, 2, 9 Kemp S.... Moser H.W. (2001)
    9. Detection of mutations in the ALD gene (ABCD1) in seven Italian families: description of four novel mutations. (PubMed id 10980539)1, 2, 9 Lira M.G.... Salviati A. (2000)
    10. Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p. (PubMed id 10777694)1, 2, 9 Gloeckner C.J.... Roscher A.A. (2000)

    External Searches for ABCD1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ABCD1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 215 HGNC: 61 AceView: ABCD1 Ensembl:ENSG00000101986 euGenes: HUgn215
    ECgene: ABCD1 Kegg: 215 H-InvDB: ABCD1

    Other Databases showing ABCD1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ABCD1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ABCD1 Pharmacogenomics, SNPs, Pathways
    X-ALD gene mutation databasehttp://www.x-ald.nl/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABCD1
    ABCMdbhttp://abcmutations.hegelab.org/proteinDetails?uniprot_id=P33897

    Intellectual Property
    for ABCD1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for ABCD1 gene:
    Search GeneIP for patents involving ABCD1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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