ABCB4
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Multidrug resistance protein 3 is a protein that in humans is encoded by the ABCB4 gene.[1][2][3] 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 (flippase activity). 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.[3]
References
- ^ Van der Bliek AM, Baas F, Ten Houte de Lange T, Kooiman PM, Van der Velde-Koerts T, Borst P (Mar 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. PMC 553787. PMID 2892668. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=553787.
- ^ Rosmorduc O, Hermelin B, Poupon R (Apr 2001). "MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis". Gastroenterology 120 (6): 1459–67. doi:10.1053/gast.2001.23947. PMID 11313316.
- ^ a b "Entrez Gene: ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5244.
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. PMC 1910597. PMID 17562004. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1910597.
- 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, Kooiman PM, Schneider C, Borst P (1989). "Sequence of mdr3 cDNA encoding a human P-glycoprotein.". Gene 71 (2): 401–11. doi:10.1016/0378-1119(88)90057-1. 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. doi:10.1007/BF00272381. 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. doi:10.1097/00005176-199402000-00003. PMID 7912266.
- Ruetz S, Gros P (1994). "Phosphatidylcholine translocase: a physiological role for the mdr2 gene.". Cell 77 (7): 1071–81. doi:10.1016/0092-8674(94)90446-4. 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. doi:10.1016/0092-8674(93)90380-9. 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. doi:10.1016/S0092-8674(00)81370-7. 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. doi:10.1073/pnas.95.1.282. PMC 18201. PMID 9419367. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=18201.
- 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. doi:10.1016/S0140-6736(05)77221-4. 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. doi:10.1093/hmg/9.8.1209. PMID 10767346.
- 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. doi:10.1016/S0301-2115(02)00064-7. 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.
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