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Abcd1 Gene Detail
Summary
  • Symbol
    Abcd1
  • Name
    ATP-binding cassette, sub-family D (ALD), member 1
  • Synonyms
    Ald, Aldgh, ALDP
  • Feature Type
    protein coding gene
  • IDs
    MGI:1349215
    NCBI Gene: 11666
  • Gene Overview
    MyGene.info: ABCD1
  • Alliance
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:73716597-73738534 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome X, 37.39 cM, cytoband B
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    114 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1349215
protein coding gene ChrX:73716597-73738534 (.)
129S1/SvImJ MGP_129S1SvImJ_G0035817
protein coding gene ChrX:69491072-69512942 (+)
A/J MGP_AJ_G0035798
protein coding gene ChrX:69687839-69710062 (+)
AKR/J MGP_AKRJ_G0035723
protein coding gene ChrX:71494253-71520195 (+)
BALB/cJ MGP_BALBcJ_G0035783
protein coding gene ChrX:68718764-68742021 (+)
C3H/HeJ MGP_C3HHeJ_G0035488
protein coding gene ChrX:69961562-69983378 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036313
protein coding gene ChrX:71621492-71643296 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0033157
protein coding gene ChrX:68723910-68745861 (+)
CAST/EiJ MGP_CASTEiJ_G0034779
protein coding gene ChrX:55308652-55331708 (+)
CBA/J MGP_CBAJ_G0035463
protein coding gene ChrX:73576536-73605075 (+)
DBA/2J MGP_DBA2J_G0035620
protein coding gene ChrX:69148019-69170058 (+)
FVB/NJ MGP_FVBNJ_G0035564
protein coding gene ChrX:68476964-68498825 (+)
LP/J MGP_LPJ_G0035705
protein coding gene ChrX:70272497-70295919 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035602
protein coding gene ChrX:76167075-76189990 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036335
protein coding gene ChrX:69311219-69333304 (+)
PWK/PhJ MGP_PWKPhJ_G0034478
protein coding gene ChrX:53323544-53345712 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034312
protein coding gene ChrX:56214961-56236933 (+)
WSB/EiJ MGP_WSBEiJ_G0034920
protein coding gene ChrX:68581980-68605589 (+)



Homology
more
  • Human Ortholog
    ABCD1, ATP binding cassette subfamily D member 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    ABCD1, ATP binding cassette subfamily D member 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ABC42, ALD, ALDP, AMN
  • Links
    NCBI Gene ID: 215
    neXtProt AC: NX_P33897
    UniProt: P33897

  • Chr Location
    Xq28; chrX:153724851-153744762 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Abcd1 mouse models; 1 with human ABCD1 associations

Human Disease Mouse Models
      
IDs
View 9 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    23 phenotypes from 4 alleles in 7 genetic backgrounds
    22 phenotypes from multigenic genotypes
    1 images
    31 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous/hemizygous for disruptions in this gene develop a late onset of neurodegenerative disease (no neurological symptoms up to 6 months of age), with an accumulation of very long chain fatty acids.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 11666 NCBI Gene Model | MGI Sequence Detail 21938 C57BL/6J ±  kb
    transcript NM_007435 RefSeq | MGI Sequence Detail 3664 C57BL/6  
    polypeptide P48410 UniProt | EBI | MGI Sequence Detail 736 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 70
      Genomic 4
      cDNA 65
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-16457, MGI:99672
    References
    more
    • Summaries
      All 75
      Developmental Gene Expression 5
      Diseases 6
      Gene Ontology 24
      Phenotypes 31
    • Earliest
      J:22184 Sarde CO, et al., cDNA sequence of Aldgh, the mouse homolog of the X-linked adrenoleukodystrophy gene. Mamm Genome. 1994 Dec;5(12):810-3
    • Latest
      J:257091 Kleinecke S, et al., Peroxisomal dysfunctions cause lysosomal storage and axonal Kv1 channel redistribution in peripheral neuropathy. Elife. 2017 May 4;6

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    11/13/2018
    MGI 6.13
    The Jackson Laboratory