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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
    gene 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
    114 from dbSNP Build 142
  • Strain Annotations
    18
  • 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 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
    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
    neXtProt AC: NX_P33897
    UniProt: P33897

  • Chr Location
    Xq28; chrX:153724856-153744755 (+)  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
    40 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
    80
  • GO References
    27
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
non-membrane-bounded 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
    837
  • 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 88
      Developmental Gene Expression 7
      Diseases 6
      Gene Ontology 27
      Phenotypes 40
    • 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:341605 Buda A, et al., ABCD1 Transporter Deficiency Results in Altered Cholesterol Homeostasis. Biomolecules. 2023 Aug 31;13(9)
    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
    04/16/2024
    MGI 6.23     		The Jackson Laboratory