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Aliases for ABCD4 Gene

Aliases for ABCD4 Gene

  • ATP-Binding Cassette, Sub-Family D (ALD), Member 4 2 3
  • PXMP1L 3 4 6
  • PMP69 3 4 6
  • Peroxisomal Membrane Protein 69 3 4
  • PMP70-Related Protein 3 4
  • PXMP1-L 3 4
  • MAHCJ 3 6
  • P79R 3 6
  • P70R 3 4
  • ATP-Binding Cassette Sub-Family D Member 4 3
  • Peroxisomal Membrane Protein 1-Like 4
  • 69 KDa Peroxisomal ABC-Transporter 3
  • EST352188 3
  • ABC41 3

External Ids for ABCD4 Gene

Previous HGNC Symbols for ABCD4 Gene

  • PXMP1L

Previous GeneCards Identifiers for ABCD4 Gene

  • GC14M072257
  • GC14M068547
  • GC14M072742
  • GC14M073821
  • GC14M074751
  • GC14M054918

Summaries for ABCD4 Gene

Entrez Gene Summary for ABCD4 Gene

  • The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown. However, it is speculated that it may function as a heterodimer for another peroxisomal ABC transporter and, therefore, may modify the adrenoleukodystrophy phenotype. It may also play a role in the process of peroxisome biogenesis. Alternative splicing results in at least two different transcript variants, one which is protein-coding and one which is probably not protein-coding. [provided by RefSeq, Jul 2008]

GeneCards Summary for ABCD4 Gene

ABCD4 (ATP-Binding Cassette, Sub-Family D (ALD), Member 4) is a Protein Coding gene. Diseases associated with ABCD4 include methylmalonic aciduria and homocystinuria, cblj type and cbij. Among its related pathways are Peroxisome and ABC-family proteins mediated transport. GO annotations related to this gene include ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCD3.

UniProtKB/Swiss-Prot for ABCD4 Gene

  • May be involved in intracellular processing of vitamin B12 (cobalamin). Could play a role in the lysosomal release of vitamin B12 into the cytoplasm.

Gene Wiki entry for ABCD4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCD4 Gene

Genomics for ABCD4 Gene

Regulatory Elements for ABCD4 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ABCD4 Gene

74,285,277 bp from pter
74,303,064 bp from pter
17,788 bases
Minus strand

Genomic View for ABCD4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ABCD4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCD4 Gene

Proteins for ABCD4 Gene

  • Protein details for ABCD4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    ATP-binding cassette sub-family D member 4
    Protein Accession:
    Secondary Accessions:
    • A8K5L7
    • Q6IAQ0
    • Q96E75

    Protein attributes for ABCD4 Gene

    606 amino acids
    Molecular mass:
    68597 Da
    Quaternary structure:
    • Homodimer or heterodimer.

neXtProt entry for ABCD4 Gene

Proteomics data for ABCD4 Gene at MOPED

Post-translational modifications for ABCD4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for ABCD4 Gene

Domains for ABCD4 Gene

Gene Families for ABCD4 Gene

  • ABCD :ATP binding cassette transporters / subfamily D

Suggested Antigen Peptide Sequences for ABCD4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • O14678
  • Contains 1 ABC transmembrane type-1 domain.
  • Contains 1 ABC transporter domain.
  • Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily.
genes like me logo Genes that share domains with ABCD4: view

Function for ABCD4 Gene

Molecular function for ABCD4 Gene

GENATLAS Biochemistry:
ATP-binding cassette superfamily,subfamily D (ALD),member 4,ubiquitously expressed,peroxisomal membrane protein 1-like,transporter,putatively involved in ALDP expression
UniProtKB/Swiss-Prot Function:
May be involved in intracellular processing of vitamin B12 (cobalamin). Could play a role in the lysosomal release of vitamin B12 into the cytoplasm.

Gene Ontology (GO) - Molecular Function for ABCD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding NAS 9266848
GO:0016887 ATPase activity --
GO:0042626 ATPase activity, coupled to transmembrane movement of substances NAS 9266848
genes like me logo Genes that share ontologies with ABCD4: view
genes like me logo Genes that share phenotypes with ABCD4: view

Animal Model Products

miRNA for ABCD4 Gene

miRTarBase miRNAs that target ABCD4

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for ABCD4 Gene

Localization for ABCD4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCD4 Gene

Peroxisome membrane; Multi-pass membrane protein.

Subcellular locations from

Jensen Localization Image for ABCD4 Gene COMPARTMENTS Subcellular localization image for ABCD4 gene
Compartment Confidence
peroxisome 5
plasma membrane 3
endoplasmic reticulum 2
cytosol 1
golgi apparatus 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for ABCD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane TAS --
GO:0005777 peroxisome IDA 14533738
GO:0005778 peroxisomal membrane IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane --
genes like me logo Genes that share ontologies with ABCD4: view

Pathways for ABCD4 Gene

genes like me logo Genes that share pathways with ABCD4: view

Pathways by source for ABCD4 Gene

2 KEGG pathways for ABCD4 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Interacting Proteins for ABCD4 Gene

Gene Ontology (GO) - Biological Process for ABCD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006200 obsolete ATP catabolic process --
GO:0006766 vitamin metabolic process TAS --
GO:0006767 water-soluble vitamin metabolic process TAS --
GO:0006810 transport --
GO:0009235 cobalamin metabolic process TAS --
genes like me logo Genes that share ontologies with ABCD4: view

Compounds for ABCD4 Gene

(1) Novoseek inferred chemical compound relationships for ABCD4 Gene

Compound -log(P) Hits PubMed IDs
fatty acid 24.9 1
genes like me logo Genes that share compounds with ABCD4: view

Transcripts for ABCD4 Gene

Unigene Clusters for ABCD4 Gene

ATP-binding cassette, sub-family D (ALD), member 4:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ABCD4

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABCD4 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d · 4e ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^
SP1: - - - - - - -
SP7: -
SP8: - -
SP9: - - - - - - -
SP10: - - - - - -
SP11: - -
SP12: - - - - - - - -
SP13: - - - -
SP14: - -
SP17: - - -
SP20: -

ExUns: 11 ^ 12a · 12b ^ 13a · 13b · 13c · 13d · 13e ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19 ^ 20a · 20b · 20c · 20d · 20e · 20f
SP1: - - - -
SP2: - - - - -
SP3: - -
SP4: - - - - - -
SP5: - - -
SP6: - -
SP7: - -

Relevant External Links for ABCD4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ABCD4 Gene

mRNA expression in normal human tissues for ABCD4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for ABCD4 Gene

This gene is overexpressed in Adrenal (56.3) and Breast (7.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ABCD4 Gene

SOURCE GeneReport for Unigene cluster for ABCD4 Gene Hs.94395

mRNA Expression by UniProt/SwissProt for ABCD4 Gene

Tissue specificity: Ubiquitous
genes like me logo Genes that share expressions with ABCD4: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Expression partners for ABCD4 Gene

Orthologs for ABCD4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ABCD4 Gene

Organism Taxonomy Gene Similarity Type Details
(Canis familiaris)
Mammalia ABCD4 35
  • 90.54 (n)
  • 91.72 (a)
ABCD4 36
  • 91 (a)
(Mus musculus)
Mammalia Abcd4 35
  • 88.17 (n)
  • 89.6 (a)
Abcd4 16
Abcd4 36
  • 90 (a)
(Pan troglodytes)
Mammalia ABCD4 35
  • 99.39 (n)
  • 99.01 (a)
ABCD4 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Abcd4 35
  • 88.21 (n)
  • 89.42 (a)
(Bos Taurus)
Mammalia ABCD4 36
  • 89 (a)
(Monodelphis domestica)
Mammalia ABCD4 36
  • 80 (a)
(Ornithorhynchus anatinus)
Mammalia ABCD4 36
  • 56 (a)
(Gallus gallus)
Aves ABCD4 35
  • 74.75 (n)
  • 77.1 (a)
ABCD4 36
  • 76 (a)
(Anolis carolinensis)
Reptilia ABCD4 36
  • 74 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia abcd4 35
  • 62.89 (n)
  • 62.44 (a)
(Danio rerio)
Actinopterygii abcd4 35
  • 65.25 (n)
  • 68.25 (a)
Dr.18695 35
abcd4 36
  • 66 (a)
(Caenorhabditis elegans)
Secernentea C54G10.3 37
  • 41 (a)
pmp-3 35
  • 47.27 (n)
  • 41.99 (a)
pmp-3 36
  • 36 (a)
pmp-5 36
  • 31 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PXA1 36
  • 17 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 45 (a)
Species with no ortholog for ABCD4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ABCD4 Gene

Gene Tree for ABCD4 (if available)
Gene Tree for ABCD4 (if available)

Paralogs for ABCD4 Gene

Paralogs for ABCD4 Gene

genes like me logo Genes that share paralogs with ABCD4: view

Variants for ABCD4 Gene

Sequence variations from dbSNP and Humsavar for ABCD4 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs2466 -- 74,286,199(+) TAGGT(A/C)ATCAG utr-variant-3-prime, nc-transcript-variant
rs8618 -- 74,286,273(-) GGACA(C/T)TGAAT utr-variant-3-prime, nc-transcript-variant
rs929449 -- 74,286,575(-) CTGCC(A/G)GCGGC intron-variant
rs1052000 -- 74,292,826(-) AGTTA(C/T)GTTGT reference, synonymous-codon, nc-transcript-variant
rs1052006 -- 74,286,438(-) GGAGA(A/G)CCACA utr-variant-3-prime, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for ABCD4 Gene

Variant ID Type Subtype PubMed ID
nsv902096 CNV Gain 21882294
nsv902097 CNV Gain 21882294

Relevant External Links for ABCD4 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCD4 Gene

Disorders for ABCD4 Gene

(1) OMIM Diseases for ABCD4 Gene (603214)


  • Methylmalonic aciduria and homocystinuria type cblJ (MAHCJ) [MIM:614857]: A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include feeding difficulties, poor growth, hypotonia, lethargy, anemia, and developmental delay. {ECO:0000269 PubMed:22922874}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for ABCD4 Gene

(1) Novoseek inferred disease relationships for ABCD4 Gene

Disease -log(P) Hits PubMed IDs
adrenoleukodystrophy 90 4

Relevant External Links for ABCD4

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with ABCD4: view

No data available for Genatlas for ABCD4 Gene

Publications for ABCD4 Gene

  1. Primary structure of human PMP69, a putative peroxisomal ABC- transporter. (PMID: 9266848) Holzinger A. … Roscher A.A. (Biochem. Biophys. Res. Commun. 1997) 2 3 4 23
  2. Genomic organization and chromosomal localization of the human peroxisomal membrane protein-1-like protein (PXMP1-L) gene encoding a peroxisomal ABC transporter. (PMID: 9599016) Holzinger A. … Kammerer S. (FEBS Lett. 1998) 3 4 23
  3. Identification of a fourth half ABC transporter in the human peroxisomal membrane. (PMID: 9302272) Shani N. … Valle D. (Hum. Mol. Genet. 1997) 2 3 4
  4. Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. (PMID: 22922874) Coelho D. … Baumgartner M.R. (Nat. Genet. 2012) 3 4
  5. Targeting of the human adrenoleukodystrophy protein to the peroxisomal membrane by an internal region containing a highly conserved motif. (PMID: 14533738) Landgraf P. … Holzinger A. (Eur. J. Cell Biol. 2003) 3 23

Products for ABCD4 Gene

Sources for ABCD4 Gene

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