The membrane-associatedprotein encoded by this gene is a member of the superfamily ofATP-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.[7]
Other conditions that have been associated with mutations in this gene includelow phospholipid associated cholelithiasis syndrome, high gamma glutamyl transferase intrahepatic cholestasis of pregnancy, chronic cholangiopathy and adult biliary fibrosis.[9]
^abRotondo JC, Bosi S, Bassi C, Ferracin M, Lanza G, Gafà R, Magri E, Selvatici R, Torresani S, Marci R, Garutti P, Negrini M, Tognon M, Martini F (April 2015). "Gene expression changes in progression of cervical neoplasia revealed by microarray analysis of cervical neoplastic keratinocytes".J Cell Physiol.230 (4):802–812.doi:10.1002/jcp.24808.hdl:11392/2066612.PMID25205602.S2CID24986454.
^Sticova E, Jirsa M (2019) ABCB4 disease: Many faces of one gene deficiency. Ann Hepatol
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.PMID2906314.
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.PMID3477522.S2CID40453462.
Smit JJ, Schinkel AH, Mol CA, et al. (1994). "Tissue distribution of the human MDR3 P-glycoprotein".Lab. Invest.71 (5):638–49.PMID7734012.
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.doi:10.1016/0167-4781(94)00214-n.PMID7893760.
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.PMID8106172.S2CID29083916.
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.PMID9542318.
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.PMID9923886.S2CID31374153.
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.PMID11745043.S2CID28265904.
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.PMID12206920.
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.doi:10.1016/s0301-2115(02)00160-4.PMID12381474.
