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ABCB4 

ATP-binding cassette, sub-family B (MDR/TAP), member 4
Identifiers
Symbols ABCB4; ABC21; MDR2/3; MDR3; PFIC-3; PGY3
External IDs OMIM: 171060 MGI: 97569 HomoloGene: 56421
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 5244 18670
Ensembl ENSG00000005471 ENSMUSG00000042476
Uniprot P21439 P21440
Refseq NM_000443 (mRNA)
NP_000434 (protein)		 NM_008830 (mRNA)
NP_032856 (protein)
Location Chr 7: 86.87 - 86.94 Mb Chr 5: 8.9 - 8.97 Mb
Pubmed search [1] [2]

ATP-binding cassette, sub-family B (MDR/TAP), member 4, also known as ABCB4, is a human gene.[1] ABCB4 is associated with progressive familial intrahepatic cholestasis type 3.

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.[1]

References

  1. ^ a b "Entrez Gene: ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4".

Further reading

  • Rosmorduc O, Poupon R (2007). "Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene.". Orphanet journal of rare diseases 2: 29. doi:10.1186/1750-1172-2-29. PMID 17562004. 
  • Mbongo-Kama E, Harnois F, Mennecier D, et al. (2007). "MDR3 mutations associated with intrahepatic and gallbladder cholesterol cholelithiasis: an update.". Annals of hepatology : official journal of the Mexican Association of Hepatology 6 (3): 143–9. PMID 17786139. 
  • Lincke CR, Smit JJ, van der Velde-Koerts T, Borst P (1991). "Structure of the human MDR3 gene and physical mapping of the human MDR locus.". J. Biol. Chem. 266 (8): 5303–10. PMID 2002063. 
  • Van der Bliek AM, Baas F, Ten Houte de Lange T, et al. (1988). "The human mdr3 gene encodes a novel P-glycoprotein homologue and gives rise to alternatively spliced mRNAs in liver.". EMBO J. 6 (11): 3325–31. PMID 2892668. 
  • van der Bliek AM, Kooiman PM, Schneider C, Borst P (1989). "Sequence of mdr3 cDNA encoding a human P-glycoprotein.". Gene 71 (2): 401–11. PMID 2906314. 
  • Callen DF, Baker E, Simmers RN, et al. (1987). "Localization of the human multiple drug resistance gene, MDR1, to 7q21.1.". Hum. Genet. 77 (2): 142–4. PMID 3477522. 
  • Smit JJ, Schinkel AH, Mol CA, et al. (1994). "Tissue distribution of the human MDR3 P-glycoprotein.". Lab. Invest. 71 (5): 638–49. PMID 7734012. 
  • Smit JJ, Mol CA, van Deemter L, et al. (1995). "Characterization of the promoter region of the human MDR3 P-glycoprotein gene.". Biochim. Biophys. Acta 1261 (1): 44–56. PMID 7893760. 
  • Whitington PF, Freese DK, Alonso EM, et al. (1994). "Clinical and biochemical findings in progressive familial intrahepatic cholestasis.". J. Pediatr. Gastroenterol. Nutr. 18 (2): 134–41. PMID 7912266. 
  • Ruetz S, Gros P (1994). "Phosphatidylcholine translocase: a physiological role for the mdr2 gene.". Cell 77 (7): 1071–81. PMID 7912658. 
  • Smit JJ, Schinkel AH, Oude Elferink RP, et al. (1993). "Homozygous disruption of the murine mdr2 P-glycoprotein gene leads to a complete absence of phospholipid from bile and to liver disease.". Cell 75 (3): 451–62. PMID 8106172. 
  • van Helvoort A, Smith AJ, Sprong H, et al. (1996). "MDR1 P-glycoprotein is a lipid translocase of broad specificity, while MDR3 P-glycoprotein specifically translocates phosphatidylcholine.". Cell 87 (3): 507–17. PMID 8898203. 
  • de Vree JM, Jacquemin E, Sturm E, et al. (1998). "Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis.". Proc. Natl. Acad. Sci. U.S.A. 95 (1): 282–7. PMID 9419367. 
  • Malorni W, Lucia MB, Rainaldi G, et al. (1998). "Intracellular expression of P-170 glycoprotein in peripheral blood mononuclear cell subsets from healthy donors and HIV-infected patients.". Haematologica 83 (1): 13–20. PMID 9542318. 
  • Jacquemin E, Cresteil D, Manouvrier S, et al. (1999). "Heterozygous non-sense mutation of the MDR3 gene in familial intrahepatic cholestasis of pregnancy.". Lancet 353 (9148): 210–1. PMID 9923886. 
  • Dixon PH, Weerasekera N, Linton KJ, et al. (2000). "Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking.". Hum. Mol. Genet. 9 (8): 1209–17. PMID 10767346. 
  • Rosmorduc O, Hermelin B, Poupon R (2001). "MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis.". Gastroenterology 120 (6): 1459–67. PMID 11313316. 
  • Jacquemin E (2002). "Role of multidrug resistance 3 deficiency in pediatric and adult liver disease: one gene for three diseases.". Semin. Liver Dis. 21 (4): 551–62. doi:10.1055/s-2001-19033. PMID 11745043. 
  • Eloranta ML, Heiskanen JT, Hiltunen MJ, et al. (2003). "Multidrug resistance 3 gene mutation 1712delT and estrogen receptor alpha gene polymorphisms in Finnish women with obstetric cholestasis.". Eur. J. Obstet. Gynecol. Reprod. Biol. 104 (2): 109–12. PMID 12206920. 
  • Eloranta ML, Heiskanen JT, Hiltunen MJ, et al. (2003). "Multidrug resistance 3 gene mutation 1712delT and estrogen receptor alpha gene polymorphisms in Finnish women with obstetric cholestasis.". Eur. J. Obstet. Gynecol. Reprod. Biol. 105 (2): 132–5. PMID 12381474. 

External links

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Membrane proteins, carrier proteins: membrane transport proteins
ABC-transporter
A1, A2, A3, A4, A7, A8, A12

B1, B2-3, B2, B3, B4, B5, B6, B7, B9, B11

C1, C2, C3, C4, C5, C6, C8, C8-9, C10, C13, C11

D1, D2, D3, D4, E1, F1, F2

G1, G2, G4, Sterolin (G5, G8)
Solute carrier
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