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FLASH GENE
Symbol ABCD4 contributors: mct - updated : 10-11-2017
HGNC name ATP-binding cassette, sub-family D (ALD), member 4
HGNC id 68
Corresponding disease
MMACHJ methylmalonic aciduria and homocystinuria, cblJ type
Location 14q24.3      Physical location : 74.751.979 - 74.769.767
Synonym name
  • peroxisomal membrane protein 1-like
  • 69 kDa peroxisomal ABC-transporter
  • PMP70-related protein
  • peroxisomal membrane protein 69
  • Synonym symbol(s) P70R, PMP69, PXMP1L, ABC45, ABC41, EST352188, MAHCJ, P79R
    DNA
    TYPE functioning gene
    STRUCTURE 17.79 kb     19 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    19 - 2920 70 606 - 2014 25535791
    ABCD4-I
    18 splicing 3031 - 563 - 2014 25535791
  • ABCD4-I2
  • lack exon 3
  • 18 splicing 2980 - 447 - 2014 25535791
  • ABCD4-I3
  • lack exon 4
  • - splicing 3090 - 592 - 2014 25535791
    - splicing 3017 - 447 - 2014 25535791
    ABCD4-I
    - - 3202 - 550 - 2014 25535791
    - - 3038 - 519 - 2014 25535791
    - - 3158 - 488 - 2014 25535791
    - - 3152 - 468 - 2014 25535791
    - - 3024 - 468 - 2014 25535791
    - - 2973 - 451 - 2014 25535791
    - - 3188 - 433 - 2014 25535791
    - - 3200 - 433 - 2014 25535791
    - - 3060 - 433 - 2014 25535791
    - - 3057 - 343 - 2014 25535791
    - - 2974 - 343 - 2014 25535791
    - - 2934 - 343 - 2014 25535791
    - - 3062 - 343 - 2014 25535791
    - - 3105 - 329 - 2014 25535791
    - - 2986 - 329 - 2014 25535791
    - - 3088 - 329 - 2014 25535791
    - - 3233 - 329 - 2014 25535791
    - - 3289 - 309 - 2014 25535791
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one ATP binding
  • one transmembrane domains (6 segments)
  • ABCD4 lacking the N-terminal hydrophobic region is targeted to the endoplasmic reticulum (ER)
  • mono polymer homomer , heteromer , dimer
    HOMOLOGY
    interspecies homolog to murine Abcd4
    Homologene
    FAMILY ATP binding cassette superfamily, subfamily D (ALD)
    CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,lysosome
    text
  • resides in the ER but not the peroxisomal membranes, and the hydrophobic property of N-terminal region determines the subcellular localization of ABC subfamily D proteins
  • ABCD4 interacts with LMBRD1 and then localizes to lysosomes, and this translocation depends on the lysosomal targeting ability of LMBRD1
  • does not localize to peroxisomes but rather, the endoplasmic reticulum (ER), because it lacks the NH2-terminal hydrophilic region required for peroxisomal targeting
  • basic FUNCTION
  • half ABC transporter, traffic ATPase, putatively involved in ALDP expression
  • putatively involved in ALDP expression
  • is deduced to take part in the transport of vitamin B12 from lysosomes into the cytosol
  • ABCD3 and ABCD4 are responsible for hepatosplenomegaly and vitamin B12 deficiency, respectively
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ABCD4 lysosomal targeting depends on co-expression of, and interaction with, LMBD1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MMACHJ
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in human LMBRD1 and ABCD4 prevent lysosomal export of vitamin B(12) to the cytoplasm, impairing the vitamin B(12)-dependent enzymes methionine synthase and methylmalonyl-CoA mutase
    Susceptibility to adrenomyeloneuropathy
    Variant & Polymorphism SNP
  • five SNPs were significantly less frequently represented in patients with adrenomyeloneuropathy (AMN) than in controls in the Japanese population 2)
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS