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Aliases for ABCB4 Gene

Aliases for ABCB4 Gene

  • ATP Binding Cassette Subfamily B Member 4 2 3 5
  • ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 4 2 3
  • ATP-Binding Cassette Sub-Family B Member 4 3 4
  • Multidrug Resistance Protein 3 3 4
  • P-Glycoprotein 3 3 4
  • EC 3.6.3.44 4 63
  • MDR3 3 4
  • PGY3 3 4
  • P Glycoprotein 3/Multiple Drug Resistance 3 3
  • P-Glycoprotein-3/Multiple Drug Resistance-3 3
  • Multiple Drug Resistance 3 3
  • EC 3.6.3 63
  • MDR2/3 3
  • PFIC-3 3
  • ABC21 3
  • GBD1 3
  • ICP3 3
  • MDR2 3

External Ids for ABCB4 Gene

Previous HGNC Symbols for ABCB4 Gene

  • PGY3
  • MDR3

Previous GeneCards Identifiers for ABCB4 Gene

  • GC07M085566
  • GC07M086629
  • GC07M086643
  • GC07M086676
  • GC07M086869
  • GC07M087031
  • GC07M081642

Summaries for ABCB4 Gene

Entrez Gene Summary for ABCB4 Gene

  • The membrane-associated 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 MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a full transporter and member of the p-glycoprotein family of membrane proteins with phosphatidylcholine as its substrate. The function of this protein has not yet been determined; however, it may involve transport of phospholipids from liver hepatocytes into bile. Alternative splicing of this gene results in several products of undetermined function. [provided by RefSeq, Jul 2008]

GeneCards Summary for ABCB4 Gene

ABCB4 (ATP Binding Cassette Subfamily B Member 4) is a Protein Coding gene. Diseases associated with ABCB4 include cholestasis, progressive familial intrahepatic 3 and gallbladder disease 1. Among its related pathways are ABC-family proteins mediated transport and Bile secretion. GO annotations related to this gene include ATPase activity and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCB11.

UniProtKB/Swiss-Prot for ABCB4 Gene

  • Energy-dependent phospholipid efflux translocator that acts as a positive regulator of biliary lipid secretion. Functions as a floppase that translocates specifically phosphatidylcholine (PC) from the inner to the outer leaflet of the canalicular membrane bilayer into the canaliculi of hepatocytes. Translocation of PC makes the biliary phospholipids available for extraction into the canaliculi lumen by bile salt mixed micelles and therefore protects the biliary tree from the detergent activity of bile salts (PubMed:7957936, PubMed:8898203, PubMed:9366571, PubMed:17523162, PubMed:23468132, PubMed:24806754, PubMed:24723470, PubMed:24594635, PubMed:21820390). Plays a role in the recruitment of phosphatidylcholine (PC), phosphatidylethanolamine (PE) and sphingomyelin (SM) molecules to nonraft membranes and to fu rther enrichment of SM and cholesterol in raft membranes in hepatocytes (PubMed:23468132). Required for proper phospholipid bile formation (By similarity). Indirectly involved in cholesterol efflux activity from hepatocytes into the canalicular lumen in the presence of bile salts in an ATP-dependent manner (PubMed:24045840). May promote biliary phospholipid secretion as canaliculi-containing vesicles from the canalicular plasma membrane (PubMed:9366571). In cooperation with ATP8B1, functions to protect hepatocytes from the deleterious detergent activity of bile salts (PubMed:21820390). Does not confer multidrug resistance (By similarity).

Gene Wiki entry for ABCB4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCB4 Gene

Genomics for ABCB4 Gene

Regulatory Elements for ABCB4 Gene

Enhancers for ABCB4 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ABCB4 on UCSC Golden Path with GeneCards custom track

Genomic Location for ABCB4 Gene

Chromosome:
7
Start:
87,401,697 bp from pter
End:
87,480,435 bp from pter
Size:
78,739 bases
Orientation:
Minus strand

Genomic View for ABCB4 Gene

Genes around ABCB4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCB4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCB4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCB4 Gene

Proteins for ABCB4 Gene

  • Protein details for ABCB4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P21439-MDR3_HUMAN
    Recommended name:
    Phosphatidylcholine translocator ABCB4
    Protein Accession:
    P21439
    Secondary Accessions:
    • A0A2V7
    • A4D1D3
    • A4D1D4
    • A4D1D5
    • D6W5P3
    • D6W5P4
    • Q14813

    Protein attributes for ABCB4 Gene

    Size:
    1286 amino acids
    Molecular mass:
    141523 Da
    Quaternary structure:
    • May interact with RACK1 (PubMed:19674157). Interacts with HAX1 (By similarity).
    SequenceCaution:
    • Sequence=CAA84542.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};

    Alternative splice isoforms for ABCB4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABCB4 Gene

Proteomics data for ABCB4 Gene at MOPED

Post-translational modifications for ABCB4 Gene

  • Glycosylated (PubMed:17523162, PubMed:24723470, PubMed:21820390).
  • Phosphorylated (PubMed:24723470). Phosphorylation on Thr-34 is required for PC efflux activity. Phosphorylation occurs on serine and threonine residues in a protein kinase A- or C-dependent manner (PubMed:24723470). May be phosphorylated on Thr-44 and Ser-49 (PubMed:24723470).
  • Glycosylation at Asn 91 and Asn 97
  • Modification sites at PhosphoSitePlus

Other Protein References for ABCB4 Gene

Domains & Families for ABCB4 Gene

Gene Families for ABCB4 Gene

Protein Domains for ABCB4 Gene

Graphical View of Domain Structure for InterPro Entry

P21439

UniProtKB/Swiss-Prot:

MDR3_HUMAN :
  • Contains 2 ABC transmembrane type-1 domains.
  • Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily.
Domain:
  • Contains 2 ABC transmembrane type-1 domains.
  • Contains 2 ABC transporter domains.
Family:
  • Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily.
genes like me logo Genes that share domains with ABCB4: view

Function for ABCB4 Gene

Molecular function for ABCB4 Gene

GENATLAS Biochemistry:
ATP binding cassette superfamily,subfamily B (MDR/TAP),member 4,involved in phosphatidylcholine translocation into the bile
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O + xenobiotic(In) = ADP + phosphate + xenobiotic(Out).
UniProtKB/Swiss-Prot EnzymeRegulation:
Translocation activity is inhibited by the ATPase inhibitor vanadate and the calcium channel blocker verapamil (PubMed:17523162, PubMed:23468132). Translocation activity is enhanced by the addition of the bile salt taurocholate (PubMed:17523162, PubMed:23468132).
UniProtKB/Swiss-Prot Function:
Energy-dependent phospholipid efflux translocator that acts as a positive regulator of biliary lipid secretion. Functions as a floppase that translocates specifically phosphatidylcholine (PC) from the inner to the outer leaflet of the canalicular membrane bilayer into the canaliculi of hepatocytes. Translocation of PC makes the biliary phospholipids available for extraction into the canaliculi lumen by bile salt mixed micelles and therefore protects the biliary tree from the detergent activity of bile salts (PubMed:7957936, PubMed:8898203, PubMed:9366571, PubMed:17523162, PubMed:23468132, PubMed:24806754, PubMed:24723470, PubMed:24594635, PubMed:21820390). Plays a role in the recruitment of phosphatidylcholine (PC), phosphatidylethanolamine (PE) and sphingomyelin (SM) molecules to nonraft membranes and to fu rther enrichment of SM and cholesterol in raft membranes in hepatocytes (PubMed:23468132). Required for proper phospholipid bile formation (By similarity). Indirectly involved in cholesterol efflux activity from hepatocytes into the canalicular lumen in the presence of bile salts in an ATP-dependent manner (PubMed:24045840). May promote biliary phospholipid secretion as canaliculi-containing vesicles from the canalicular plasma membrane (PubMed:9366571). In cooperation with ATP8B1, functions to protect hepatocytes from the deleterious detergent activity of bile salts (PubMed:21820390). Does not confer multidrug resistance (By similarity).
UniProtKB/Swiss-Prot Induction:
Up-regulated by PPARA (PubMed:24122873). Up-regulated by compounds that cause peroxisome proliferation, such as fenofibrate (at protein level). Up-regulated by bezafibrate (PubMed:15258199). Up-regulated by compounds that cause peroxisome proliferation, such as fenofibrate, bezafibrate and gemfibrozil (PubMed:24122873).

Enzyme Numbers (IUBMB) for ABCB4 Gene

Gene Ontology (GO) - Molecular Function for ABCB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19674157
GO:0008559 xenobiotic-transporting ATPase activity IEA --
genes like me logo Genes that share ontologies with ABCB4: view
genes like me logo Genes that share phenotypes with ABCB4: view

Human Phenotype Ontology for ABCB4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ABCB4 Gene

MGI Knock Outs for ABCB4:

Animal Model Products

In Situ Assay Products

Flow Cytometry Products

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for ABCB4 Gene

Localization for ABCB4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCB4 Gene

Cell membrane; Multi-pass membrane protein. Apical cell membrane; Multi-pass membrane protein. Membrane raft. Cytoplasm. Cytoplasmic vesicle, clathrin-coated vesicle. Note=Localized at the apical canalicular membrane of the epithelial cells lining the lumen of the bile canaliculi and biliary ductules (By similarity). Transported from the Golgi to the apical bile canalicular membrane in a RACK1-dependent manner (PubMed:19674157). Redistributed into pseudocanaliculi formed between cells in a bezafibrate- or PPARA-dependent manner (PubMed:15258199). Localized preferentially in lipid nonraft domains of canalicular plasma membranes (PubMed:23468132). {ECO:0000250 UniProtKB:P21440, ECO:0000269 PubMed:15258199, ECO:0000269 PubMed:19674157, ECO:0000269 PubMed:23468132}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ABCB4 Gene COMPARTMENTS Subcellular localization image for ABCB4 gene
Compartment Confidence
extracellular 5
plasma membrane 5
nucleus 3
cytoskeleton 2
cytosol 2
endoplasmic reticulum 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ABCB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane TAS 7912658
genes like me logo Genes that share ontologies with ABCB4: view

Pathways & Interactions for ABCB4 Gene

genes like me logo Genes that share pathways with ABCB4: view

Gene Ontology (GO) - Biological Process for ABCB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002591 positive regulation of antigen processing and presentation of peptide antigen via MHC class I IBA --
GO:0006629 lipid metabolic process TAS 7912658
GO:0006855 drug transmembrane transport IEA --
GO:0032376 positive regulation of cholesterol transport IMP 24045840
GO:0042493 response to drug TAS 7912658
genes like me logo Genes that share ontologies with ABCB4: view

No data available for SIGNOR curated interactions for ABCB4 Gene

Drugs & Compounds for ABCB4 Gene

(22) Drugs for ABCB4 Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Colchicine Approved Pharma Antagonist, Transporter, inducer Tubulin Inhibitor, Inhibitor of tubulin 105
Etravirine Approved Pharma Transporter, inhibitor 74
Silodosin Approved Pharma Antagonist, Transporter, substrate α1-adrenoceptor antagonist 22
Elacridar Investigational Pharma BCRP inhibitor 0

(13) Additional Compounds for ABCB4 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
PC(18:1(9Z)e/2:0)
  • (2-acetyloxy-3-octadec-9-enoxypropyl) 2-trimethylazaniumylethyl phosphate
  • 2-Acetyl-1-(9Z-octadecenyl)-sn-glycero-3-phosphocholine
  • PC(O-18:1(9Z)/2:0)
Phosphatidylcholines Group A
  • (R)-4-hydroxy-N,N,N-trimethyl-10-oxo-7-[(1-oxohexadecyl)oxy]-3,5,9-Trioxa-4-phosphapentacosan-1-aminium 4-oxide hydroxide inner salt
  • (R)-4-hydroxy-N,N,N-trimethyl-10-oxo-7-[(1-oxohexadecyl)oxy]-3,5,9-Trioxa-4-phosphapentacosan-1-aminium 4-oxide inner salt
  • 1,2-Bis(hexadecanoyl)-sn-glycero-3-phosphocholine
  • 1,2-Bis(palmitoyl)-sn-glycero-3-phosphocholine
  • 1,2-Dihexadecanoyl-sn-glycerol-3-phosphorylcholine
63-89-8, 68737-67-7
Phosphatidylcholines Group B
  • 1-(1-Enyl-palmitoyl)-2-stearidonoyl-sn-glycero-3-phosphocholine
  • GPCho(16:0/18:4)
  • GPCho(16:0/18:4n3)
  • GPCho(16:0/18:4w3)
  • GPCho(34:4)
88542-95-4

(1) ApexBio Compounds for ABCB4 Gene

Compound Action Cas Number
Elacridar BCRP inhibitor 143664-11-3
genes like me logo Genes that share compounds with ABCB4: view

Transcripts for ABCB4 Gene

Unigene Clusters for ABCB4 Gene

ATP-binding cassette, sub-family B (MDR/TAP), member 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ABCB4 Gene

No ASD Table

Relevant External Links for ABCB4 Gene

GeneLoc Exon Structure for
ABCB4
ECgene alternative splicing isoforms for
ABCB4

Expression for ABCB4 Gene

mRNA expression in normal human tissues for ABCB4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ABCB4 Gene

This gene is overexpressed in Liver (x33.6).

Protein differential expression in normal tissues from HIPED for ABCB4 Gene

This gene is overexpressed in Liver (66.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ABCB4 Gene



SOURCE GeneReport for Unigene cluster for ABCB4 Gene Hs.654403

genes like me logo Genes that share expression patterns with ABCB4: view

Protein tissue co-expression partners for ABCB4 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for ABCB4 Gene

Orthologs for ABCB4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABCB4 Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia ABCB4 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abcb4 36
  • 91 (a)
OneToOne
Abcb4 16
Abcb4 35
  • 87.34 (n)
  • 91.29 (a)
chimpanzee
(Pan troglodytes)
Mammalia ABCB4 36
  • 100 (a)
OneToOne
ABCB4 35
  • 99.61 (n)
  • 99.53 (a)
dog
(Canis familiaris)
Mammalia ABCB4 36
  • 90 (a)
OneToOne
ABCB4 35
  • 89.44 (n)
  • 90.45 (a)
cow
(Bos Taurus)
Mammalia ABCB4 36
  • 88 (a)
OneToOne
ABCB4 35
  • 88.5 (n)
  • 88.36 (a)
rat
(Rattus norvegicus)
Mammalia Abcb4 35
  • 86.73 (n)
  • 91.38 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 66 (a)
ManyToMany
ABCB1LB 36
  • 65 (a)
ManyToMany
ABCB1LA 35
  • 73 (n)
  • 73.21 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 69 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii abcb4 36
  • 63 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Mdr65 36
  • 41 (a)
ManyToMany
Mdr50 36
  • 42 (a)
ManyToMany
Mdr49 36
  • 41 (a)
ManyToMany
CG10226 36
  • 38 (a)
ManyToMany
Mdr65 35
  • 51.34 (n)
  • 45.49 (a)
Mdr65 37
  • 43 (a)
Mdr50 37
  • 43 (a)
Mdr49 37
  • 41 (a)
CG10226 37
  • 64 (a)
worm
(Caenorhabditis elegans)
Secernentea pgp-2 36
  • 45 (a)
OneToMany
pgp-7 37
  • 35 (a)
pgp-6 37
  • 35 (a)
pgp-5 37
  • 35 (a)
pgp-4 37
  • 40 (a)
pgp-2 37
  • 46 (a)
pgp-15 37
  • 36 (a)
pgp-14 37
  • 38 (a)
pgp-12 37
  • 38 (a)
pgp-11 37
  • 33 (a)
pgp-1 37
  • 43 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes STE6 36
  • 25 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os01g0534700 35
  • 52.06 (n)
  • 43.83 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.8 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4293 36
  • 46 (a)
ManyToMany
-- 36
  • 52 (a)
ManyToMany
-- 36
  • 47 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1721 35
Species with no ortholog for ABCB4:
  • 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)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ABCB4 Gene

ENSEMBL:
Gene Tree for ABCB4 (if available)
TreeFam:
Gene Tree for ABCB4 (if available)

Paralogs for ABCB4 Gene

Paralogs for ABCB4 Gene

Pseudogenes.org Pseudogenes for ABCB4 Gene

genes like me logo Genes that share paralogs with ABCB4: view

Variants for ABCB4 Gene

Sequence variations from dbSNP and Humsavar for ABCB4 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs45596335 - 87,450,089(-) AGATA(C/G)TCTCG nc-transcript-variant, reference, missense
rs2230028 - 87,426,860(-) CCACT(A/C/G)GAATG nc-transcript-variant, reference, missense
rs58238559 - 87,452,957(+) CCGCG(C/T)ATTGA nc-transcript-variant, reference, missense, utr-variant-5-prime
VAR_023502 -
VAR_023503 Cholestasis of pregnancy, intrahepatic 3 (ICP3)

Structural Variations from Database of Genomic Variants (DGV) for ABCB4 Gene

Variant ID Type Subtype PubMed ID
nsv888677 CNV Gain 21882294
nsv464622 CNV Gain 19166990
nsv428177 CNV Loss 18775914
nsv888678 CNV Loss 21882294
nsv464623 CNV Gain 19166990
dgv7382n71 CNV Loss 21882294
dgv7383n71 CNV Loss 21882294
nsv523246 CNV Loss 19592680
nsv888686 CNV Loss 21882294
nsv888689 CNV Loss 21882294
nsv888690 CNV Loss 21882294

Variation tolerance for ABCB4 Gene

Residual Variation Intolerance Score: 6.93% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.36; 94.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABCB4 Gene

HapMap Linkage Disequilibrium report
ABCB4
Human Gene Mutation Database (HGMD)
ABCB4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCB4 Gene

Disorders for ABCB4 Gene

MalaCards: The human disease database

(28) MalaCards diseases for ABCB4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ABCB4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MDR3_HUMAN
  • Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972]: A liver disorder of pregnancy. It presents during the second or, more commonly, the third trimester of pregnancy with intense pruritus which becomes more severe with advancing gestation and cholestasis. It causes fetal distress, spontaneous premature delivery and intrauterine death. Patients have spontaneous and progressive disappearance of cholestasis after delivery. Cholestasis results from abnormal biliary transport from the liver into the small intestine. {ECO:0000269 PubMed:10767346, ECO:0000269 PubMed:12746424, ECO:0000269 PubMed:15077010}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]: A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. {ECO:0000269 PubMed:11313315, ECO:0000269 PubMed:12671900, ECO:0000269 PubMed:17726488, ECO:0000269 PubMed:21119540, ECO:0000269 PubMed:24045840, ECO:0000269 PubMed:24594635, ECO:0000269 PubMed:24806754, ECO:0000269 PubMed:9419367}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Gallbladder disease 1 (GBD1) [MIM:600803]: One of the major digestive diseases. Gallstones composed of cholesterol (cholelithiasis) are the common manifestations in western countries. Most people with gallstones, however, remain asymptomatic through their lifetimes. {ECO:0000269 PubMed:11313316, ECO:0000269 PubMed:12891548, ECO:0000269 PubMed:22331132, ECO:0000269 PubMed:23533021, ECO:0000269 PubMed:24723470, ECO:0000269 Ref.2}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ABCB4

Genetic Association Database (GAD)
ABCB4
Human Genome Epidemiology (HuGE) Navigator
ABCB4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABCB4
genes like me logo Genes that share disorders with ABCB4: view

No data available for Genatlas for ABCB4 Gene

Publications for ABCB4 Gene

  1. Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy. (PMID: 15077010) Pauli-Magnus C. … Kullak-Ublick G.A. (Pharmacogenetics 2004) 3 4 23 48 67
  2. MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis. (PMID: 11313316) Rosmorduc O. … Poupon R. (Gastroenterology 2001) 2 3 23
  3. DHPLC screening for mutations in progressive familial intrahepatic cholestasis patients. (PMID: 20414253) Shapiro R. … Bercovich D. (J. Hum. Genet. 2010) 3 23
  4. The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects. (PMID: 20422496) Davit-Spraul A. … Jacquemin E. (Semin. Liver Dis. 2010) 3 23
  5. ABCB4 sequence variations in young adults with cholesterol gallstone disease. (PMID: 19018976) Nakken K.E. … Raeder M.G. (Liver Int. 2009) 3 23

Products for ABCB4 Gene

Sources for ABCB4 Gene

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