ABCD3 Gene (Protein Coding)

ATP Binding Cassette Subfamily D Member 3

GC01P094418
GIFtS:
45
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... See more...

Aliases for ABCD3 Gene

Aliases for ABCD3 Gene

  • ATP Binding Cassette Subfamily D Member 3 2 3 5
  • ATP-Binding Cassette, Sub-Family D (ALD), Member 3 2 3
  • ATP-Binding Cassette Sub-Family D Member 3 3 4
  • 70 KDa Peroxisomal Membrane Protein 3 4
  • PXMP1 3 4
  • PMP70 3 4
  • DJ824O18.1 (ATP-Binding Cassette, Sub-Family D (ALD), Member 3 (PMP70, PXMP1)) 3
  • Peroxisomal Membrane Protein 1 (70kD, Zellweger Syndrome) 3
  • Peroxisomal Membrane Protein-1 (70kD) 3
  • ABC43 3
  • CBAS5 3
  • ZWS2 3

External Ids for ABCD3 Gene

Previous HGNC Symbols for ABCD3 Gene

  • PXMP1

Previous GeneCards Identifiers for ABCD3 Gene

  • GC01P095285
  • GC01P094089
  • GC01P094234
  • GC01P094355
  • GC01P094596
  • GC01P094656
  • GC01P094883
  • GC01P093005

Summaries for ABCD3 Gene

Entrez Gene Summary for ABCD3 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. This peroxisomal membrane protein likely plays an important role in peroxisome biogenesis. Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for ABCD3 Gene

ABCD3 (ATP Binding Cassette Subfamily D Member 3) is a Protein Coding gene. Diseases associated with ABCD3 include Bile Acid Synthesis Defect, Congenital, 5 and Zellweger Syndrome. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Nuclear Receptors in Lipid Metabolism and Toxicity. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCD2.

UniProtKB/Swiss-Prot Summary for ABCD3 Gene

  • Probable transporter involved in the transport of branched-chain fatty acids and C27 bile acids into the peroxisome; the latter function is a crucial step in bile acid biosynthesis (PubMed:25168382). The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity (PubMed:11248239).

Gene Wiki entry for ABCD3 Gene

Additional gene information for ABCD3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABCD3 Gene

Genomics for ABCD3 Gene

GeneHancer (GH) Regulatory Elements for ABCD3 Gene

Promoters and enhancers for ABCD3 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01J094416 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 771.8 +0.9 865 4.9 ZNF24 SP1 ZBTB40 ZBTB6 MLX SMARCE1 POLR2A CREB1 ZNF701 ELF1 ABCD3 ENSG00000286692 CNN3 RWDD3 ENSG00000228852 SLC44A3 RF00994-038
GH01J094321 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.2 -92.7 -92741 7.3 SIN3A SREBF1 TCF7L2 ZNF362 MNT SP1 ZBTB33 MAFK PRDM1 ZNF384 ENSG00000236098 ARHGAP29-AS1 ABCD3 ABCA4 ARHGAP29 F3 LOC105378859
GH01J094383 Enhancer 1.1 Ensembl ENCODE 16.6 -33.1 -33113 3.5 SIN3A LCORL FOXA1 MLX RBPJ NR2F1 NR2F6 ATF1 CREB1 MIXL1 ABCD3 ARHGAP29-AS1 lnc-ARHGAP29-6 piR-49156-002
GH01J094463 Enhancer 0.8 Ensembl ENCODE 23.6 +45.3 45321 1.6 CTCF MAX RAD21 ELF3 ARID2 REST TRIM22 ZNF7 IRF2 DEK ABCD3 SLC44A3 SLC44A3-AS1 piR-37170-003 piR-38562-004 lnc-F3-3
GH01J094332 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.2 -83.6 -83634 3.7 CTCF FOXA1 MIXL1 CC2D1A DACH1 RAD21 CEBPG ZSCAN21 CREM PPARG piR-39701-003 ARHGAP29-AS1 ABCD3 lnc-ARHGAP29-5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ABCD3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ABCD3 gene promoter:
  • AML1a
  • C/EBPalpha
  • Egr-2
  • FOXF2
  • GATA-1
  • Hlf
  • Nkx2-5
  • POU6F1 (c2)
  • S8
  • SRY

Genomic Locations for ABCD3 Gene

Genomic Locations for ABCD3 Gene
chr1:94,418,086-94,518,666
(GRCh38/hg38)
Size:
100,581 bases
Orientation:
Plus strand
chr1:94,883,933-94,984,222
(GRCh37/hg19)
Size:
100,290 bases
Orientation:
Plus strand

Genomic View for ABCD3 Gene

Genes around ABCD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCD3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ABCD3 Gene

Proteins for ABCD3 Gene

Products:

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  • Protein details for ABCD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P28288-ABCD3_HUMAN
    Recommended name:
    ATP-binding cassette sub-family D member 3
    Protein Accession:
    P28288
    Secondary Accessions:
    • D3DT46
    • Q15271
    • Q6NUN5
    • Q96DA3
    • Q9H529

    Protein attributes for ABCD3 Gene

    Size:
    659 amino acids
    Molecular mass:
    75476 Da
    Quaternary structure:
    • Can form heterodimers with ABCD1/ALD and ABCD2/ALDR. Dimerization is necessary to form an active transporter. Interacts with PEX19.
    Miscellaneous:
    • Mutation in ABCD3 have been found in two individuals affected by Zellweger syndrome. However, the role of ABCD3 in the causation of Zellweger syndrome remains uncertain.

    Alternative splice isoforms for ABCD3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABCD3 Gene

Protein Expression for ABCD3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ABCD3 Gene

  • Glycosylation at Asn12, Asn106, and Asn206
  • Ubiquitination at Lys6, Lys260, Lys286, Lys347, Lys479, and Lys576
  • Modification sites at PhosphoSitePlus

Other Protein References for ABCD3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ABCD3 Gene

Domains & Families for ABCD3 Gene

Gene Families for ABCD3 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for ABCD3 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ABCD3 Gene

GenScript: Design optimal peptide antigens:
  • 70 kDa peroxisomal membrane protein (ABCD3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P28288

UniProtKB/Swiss-Prot:

ABCD3_HUMAN :
  • Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily.
Family:
  • 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 ABCD3: view

Function for ABCD3 Gene

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Molecular function for ABCD3 Gene

UniProtKB/Swiss-Prot Function:
Probable transporter involved in the transport of branched-chain fatty acids and C27 bile acids into the peroxisome; the latter function is a crucial step in bile acid biosynthesis (PubMed:25168382). The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity (PubMed:11248239).
GENATLAS Biochemistry:
ATP binding cassette superfamily,subfamily D (ALD),member 3,peroxisomal membrane protein,involved in the peroxisomal import of fatty acid or fatty acyl coA,see ZWS2

Phenotypes From GWAS Catalog for ABCD3 Gene

Gene Ontology (GO) - Molecular Function for ABCD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005324 long-chain fatty acid transporter activity IEA --
GO:0005515 protein binding IPI 10551832
GO:0005524 ATP binding IDA 11248239
GO:0016887 ATPase activity IDA 11248239
GO:0042626 ATPase activity, coupled to transmembrane movement of substances IEA --
genes like me logo Genes that share ontologies with ABCD3: view
genes like me logo Genes that share phenotypes with ABCD3: view

Human Phenotype Ontology for ABCD3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ABCD3 Gene

MGI Knock Outs for ABCD3:

Animal Model Products

CRISPR Products

miRNA for ABCD3 Gene

miRTarBase miRNAs that target ABCD3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ABCD3 Gene

Localization for ABCD3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCD3 Gene

Peroxisome membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABCD3 gene
Compartment Confidence
peroxisome 5
cytosol 4
mitochondrion 3
endoplasmic reticulum 1
lysosome 1
plasma membrane 0
extracellular 0
nucleus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Peroxisomes (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ABCD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005777 peroxisome IDA 9425230
GO:0005778 peroxisomal membrane TAS --
GO:0005782 peroxisomal matrix IDA 9765053
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ABCD3: view

Pathways & Interactions for ABCD3 Gene

genes like me logo Genes that share pathways with ABCD3: view

Pathways by source for ABCD3 Gene

1 BioSystems pathway for ABCD3 Gene
2 KEGG pathways for ABCD3 Gene

Gene Ontology (GO) - Biological Process for ABCD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006633 fatty acid biosynthetic process IMP 25168382
GO:0006635 fatty acid beta-oxidation IGI 9425230
GO:0007031 peroxisome organization IMP 9765053
GO:0014070 response to organic cyclic compound IEA --
GO:0015910 peroxisomal long-chain fatty acid import IEA --
genes like me logo Genes that share ontologies with ABCD3: view

No data available for SIGNOR curated interactions for ABCD3 Gene

Drugs & Compounds for ABCD3 Gene

Products:

  1. Drug

(1) Drugs for ABCD3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for ABCD3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ABCD3: view

Transcripts for ABCD3 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ABCD3 Gene

(2) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABCD3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22
SP1: - -
SP2: - - - - - -
SP3: -
SP4:

Relevant External Links for ABCD3 Gene

GeneLoc Exon Structure for
ABCD3
ECgene alternative splicing isoforms for
ABCD3

Expression for ABCD3 Gene

Products:

  1. Primer
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ABCD3 Gene

mRNA expression in normal human tissues for ABCD3 Gene
mRNA expression by GTEx for ABCD3 GenemRNA expression by BioGPS for ABCD3 Gene

Protein differential expression in normal tissues from HIPED for ABCD3 Gene

This gene is overexpressed in Nasal epithelium (51.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ABCD3 Gene



Protein tissue co-expression partners for ABCD3 Gene

NURSA nuclear receptor signaling pathways regulating expression of ABCD3 Gene:

ABCD3

SOURCE GeneReport for Unigene cluster for ABCD3 Gene:

Hs.700576

Evidence on tissue expression from TISSUES for ABCD3 Gene

  • Nervous system(4.9)
  • Liver(4.6)
  • Lung(4.4)
  • Adrenal gland(2.7)
  • Kidney(2.6)
  • Stomach(2.5)
  • Gall bladder(2.2)
  • Intestine(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ABCD3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • outer ear
  • skull
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • thymus
Abdomen:
  • kidney
  • liver
  • spleen
Pelvis:
  • pelvis
  • testicle
  • vagina
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with ABCD3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ABCD3 Gene

Orthologs for ABCD3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABCD3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia ABCD3 33
  • 96 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia ABCD3 33
  • 95 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia ABCD3 33 32
  • 93.47 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia ABCD3 33 32
  • 92.48 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia ABCD3 33
  • 92 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Abcd3 32
  • 90.44 (n)
mouse
(Mus musculus)
 Mammalia Abcd3 17 33 32
  • 89.43 (n)
chicken
(Gallus gallus)
 Aves ABCD3 33 32
  • 81.89 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia ABCD3 33
  • 87 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia abcd3 32
  • 77.85 (n)
Str.14736 32
African clawed frog
(Xenopus laevis)
 Amphibia Xl.1498 32
zebrafish
(Danio rerio)
 Actinopterygii abcd3b 33
  • 77 (a)
 OneToMany
abcd3a 33 32
  • 72.76 (n)
 OneToMany
Dr.3614 32
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.4773 32
fruit fly
(Drosophila melanogaster)
 Insecta CG12703 34
  • 59 (a)
Pmp70 33 32
  • 55.64 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP000440 32
  • 54.89 (n)
worm
(Caenorhabditis elegans)
 Secernentea pmp-2 33 32
  • 61.48 (n)
 OneToMany
C44B7.9 34
  • 61 (a)
C44B7.8 34
  • 59 (a)
pmp-1 33
  • 56 (a)
 OneToMany
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes PXA1 33
  • 23 (a)
 OneToMany
thale cress
(Arabidopsis thaliana)
 eudicotyledons PXA1 32
  • 47.5 (n)
rice
(Oryza sativa)
 Liliopsida Os05g0107600 32
  • 47.34 (n)
Os.28988 32
sea squirt
(Ciona savignyi)
 Ascidiacea Cin.4944 32
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.4944 32
Species where no ortholog for ABCD3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ABCD3 Gene

ENSEMBL:
Gene Tree for ABCD3 (if available)
TreeFam:
Gene Tree for ABCD3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ABCD3: view image

Paralogs for ABCD3 Gene

Paralogs for ABCD3 Gene

(4) SIMAP similar genes for ABCD3 Gene using alignment to 3 proteins:

  • ABCD3_HUMAN
  • E7EUE1_HUMAN
  • F5GYC1_HUMAN
genes like me logo Genes that share paralogs with ABCD3: view

Variants for ABCD3 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for ABCD3 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs121917999 uncertain-significance, Zellweger syndrome 2, - 94,418,528(+) G/A coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs16946 benign, not specified, not provided 94,464,789(+) G/A/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, synonymous_variant
rs786200917 uncertain-significance, Zellweger syndrome 2 94,515,203(+) G/A/T genic_downstream_transcript_variant, splice_donor_variant
rs147293586 likely-benign, not provided 94,491,217(+) A/G coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant
rs147055150 likely-benign, not specified 94,517,078(+) C/G coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for ABCD3 Gene

Variant ID Type Subtype PubMed ID
esv1930968 CNV deletion 18987734
esv2714951 CNV deletion 23290073
esv2714962 CNV deletion 23290073
esv2714973 CNV deletion 23290073
esv3120 CNV loss 18987735
esv3578013 CNV loss 25503493
nsv1122378 CNV deletion 24896259
nsv546851 CNV loss 21841781

Variation tolerance for ABCD3 Gene

Residual Variation Intolerance Score: 16.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.05; 21.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABCD3 Gene

Human Gene Mutation Database (HGMD)
ABCD3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABCD3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCD3 Gene

Disorders for ABCD3 Gene

MalaCards: The human disease database

(6) MalaCards diseases for ABCD3 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bile acid synthesis defect, congenital, 5
  • cbas5
zellweger syndrome
  • zs
adrenoleukodystrophy
  • sudanophilic cerebral sclerosis
congenital bile acid synthesis defect
  • bile acid synthesis defect, congenital, 1
cerebral degeneration
  • brain degeneration
- elite association - COSMIC cancer census association via MalaCards
Search ABCD3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ABCD3_HUMAN
  • Congenital bile acid synthesis defect 5 (CBAS5) [MIM:616278]: An autosomal recessive disorder characterized by hepatosplenomegaly, hepatic fibrosis, progressive liver failure, and accumulation of peroxisomal C27-bile acid intermediates in plasma. {ECO:0000269 PubMed:25168382}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ABCD3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ABCD3: view

No data available for Genatlas for ABCD3 Gene

Publications for ABCD3 Gene

  1. Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome. (PMID: 1301993) Gärtner J … Valle D (Nature genetics 1992) 2 3 4 23 56
  2. Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters. (PMID: 11248239) Roerig P … Gärtner J (FEBS letters 2001) 3 4 23 56
  3. Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p. (PMID: 10777694) Gloeckner CJ … Roscher AA (Biochemical and biophysical research communications 2000) 3 4 23 56
  4. Genomic organization of the 70-kDa peroxisomal membrane protein gene (PXMP1). (PMID: 9521874) Gärtner J … Valle D (Genomics 1998) 3 4 23 56
  5. Nucleotide sequence of the human 70 kDa peroxisomal membrane protein: a member of ATP-binding cassette transporters. (PMID: 1536884) Kamijo K … Hashimoto T (Biochimica et biophysica acta 1992) 3 4 23 56

ExternalLinks

View latest publications for ABCD3 gene in Mastermind

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