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Abcd4 Gene Detail
Summary
  • Symbol
    Abcd4
  • Name
    ATP-binding cassette, sub-family D member 4
  • Synonyms
    P69r, Pxmp1l
  • Feature Type
    protein coding gene
  • IDs
    MGI:1349217
    NCBI Gene: 19300
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:84648634-84664259 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 12, 39.30 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    90 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1349217
 protein coding gene Chr12:84648238-84664259 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019941
 protein coding gene Chr12:85325621-85340560 (-)
A/J MGP_AJ_G0019898
 protein coding gene Chr12:82095050-82110667 (-)
AKR/J MGP_AKRJ_G0019874
 protein coding gene Chr12:84310921-84325932 (-)
BALB/cJ MGP_BALBcJ_G0019878
 protein coding gene Chr12:82426808-82441750 (-)
C3H/HeJ MGP_C3HHeJ_G0019684
 protein coding gene Chr12:84782685-84798324 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020329
 protein coding gene Chr12:87783574-87799549 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017947
 protein coding gene Chr12:78989452-79005248 (-)
CAST/EiJ MGP_CASTEiJ_G0019233
 protein coding gene Chr12:79740749-79757125 (-)
CBA/J MGP_CBAJ_G0019655
 protein coding gene Chr12:91176111-91191124 (-)
DBA/2J MGP_DBA2J_G0019770
 protein coding gene Chr12:81618266-81633209 (-)
FVB/NJ MGP_FVBNJ_G0019756
 protein coding gene Chr12:80576821-80591757 (-)
LP/J MGP_LPJ_G0019842
 protein coding gene Chr12:85204687-85219714 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019795
 protein coding gene Chr12:94073295-94091268 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020363
 protein coding gene Chr12:83919740-83934681 (-)
PWK/PhJ MGP_PWKPhJ_G0018997
 protein coding gene Chr12:76108829-76124086 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018792
 protein coding gene Chr12:78405274-78420168 (-)
WSB/EiJ MGP_WSBEiJ_G0019285
 protein coding gene Chr12:84626760-84641687 (-)



Homology
more
  • Human Ortholog
    ABCD4, ATP binding cassette subfamily D member 4
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ABCD4, ATP binding cassette subfamily D member 4
  • Synonyms
    ABC41, EST352188, MAHCJ, P70R, P79R, PMP69, PXMP1L
  • Links
    NCBI Gene ID: 5826
    neXtProt AC: NX_O14678
    UniProt: O14678

  • Chr Location
    14q24.3; chr14:74285269-74303055 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    2 phenotypes from 1 allele in 1 genetic background
    9 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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    24
  • GO References
    8
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
    844
  • Tissues
    110
  • cDNA Data
    37
  • Literature Summary
    6
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 19300 NCBI Gene Model | MGI Sequence Detail 15626 C57BL/6J ±  kb
transcript NM_008992 RefSeq | MGI Sequence Detail 2451 C57BL/6  
polypeptide O89016 UniProt | EBI | MGI Sequence Detail 606 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 41
    cDNA 41

    Microarray probesets 4
Other
Accession IDs
less
MGI:1298215
References
more
  • Summaries
    All 40
    Developmental Gene Expression 6
    Gene Ontology 8
    Phenotypes 9
  • Earliest
    J:49554 Holzinger A, et al., The mouse gene encoding the peroxisomal membrane protein 1-like protein (PXMP1-L): cDNA cloning, genomic organization and comparative expression studies. FEBS Lett. 1998 Aug 14;433(1-2):179-83
  • Latest
    J:319901 Kitai K, et al., The lysosomal protein ABCD4 can transport vitamin B12 across liposomal membranes in vitro. J Biol Chem. 2021 Apr 9;:100654
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)
Citing These Resources
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