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Abcd1 Gene Detail
Summary
  • Symbol
    Abcd1
  • Name
    ATP-binding cassette, sub-family D member 1
  • Synonyms
    Ald, Aldgh, ALDP
  • Feature Type
    protein coding gene
  • IDs
    MGI:1349215
    NCBI Gene: 11666
  • Alliance
    genome feature page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:72760203-72782140 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 37.39 cM, cytoband B
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    447 from dbSNP Build 142
  • Strain Annotations
    19
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1349215
 protein coding gene ChrX:72760203-72782140 (+)
129S1/SvImJ ENSMUSG00200041785
 protein coding gene ChrX:54820745-54842678 (+)
A/J ENSMUSG00195032887
 protein coding gene ChrX:58496810-58518746 (+)
AKR/J ENSMUSG00220044891
 protein coding gene ChrX:53799090-53821026 (+)
BALB/cJ ENSMUSG00180045424
 protein coding gene ChrX:55077525-55099461 (+)
C3H/HeJ ENSMUSG00175032713
 protein coding gene ChrX:58661202-58683137 (+)
C57BL/6NJ ENSMUSG00215037037
 protein coding gene ChrX:55161360-55183297 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0033157
 protein coding gene ChrX:68723910-68745861 (+)
CAST/EiJ ENSTCUG00005040105
 protein coding gene ChrX:56579021-56601162 (+)
CBA/J ENSMUSG00210034722
 protein coding gene ChrX:55341880-55363816 (+)
DBA/2J ENSMUSG00185032014
 protein coding gene ChrX:67763518-67785454 (+)
FVB/NJ ENSMUSG00205037409
 protein coding gene ChrX:54642845-54664781 (+)
JF1/MsJ ENSUMUG00000025172
 protein coding gene ChrX:88504756-88526707 (+)
LP/J ENSMUSG00230031145
 protein coding gene ChrX:74342904-74364837 (+)
NOD/ShiLtJ ENSMUSG00190036855
 protein coding gene ChrX:54581873-54603809 (+)
NZO/HlLtJ ENSMUSG00225047540
 protein coding gene ChrX:79547265-79569198 (+)
PWK/PhJ ENSLUMG00010043763
 protein coding gene ChrX:54325934-54347849 (+)
SPRET/EiJ ENSMSPG00010030703
 protein coding gene ChrX:57408434-57430471 (+)
WSB/EiJ ENSIUOG00005049055
 protein coding gene ChrX:55406938-55429139 (+)



Homology
more
  • Human Ortholog
    ABCD1, ATP binding cassette subfamily D member 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ABCD1, ATP binding cassette subfamily D member 1
  • Synonyms
    ABC42, ALD, ALDP, AMN
  • Links
    NCBI Gene ID: 215
    UniProt: P33897

  • Chr Location
    Xq28; chrX:153724495-153744755 (+)  GRCh38
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
    47 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
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
    130
  • GO References
    32
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    728
  • Tissues
    123
  • cDNA Data
    64
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 ZRU/MplStud  
    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 100
      Developmental Gene Expression 7
      Diseases 6
      Gene Ontology 32
      Phenotypes 47
    • 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:388224 Li C, et al., Nervonic acid supplementation mitigates disease severity biomarkers in adrenoleukodystrophy. Neurotherapeutics. 2026 Apr 7;:e00890
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/01/2026
    MGI 6.24     		The Jackson Laboratory