ABCB4

ATP-binding cassette, sub-family B (MDR/TAP), member 4, also known as ABCB4, is a human gene.cite web | title = Entrez Gene: ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5244| accessdate = ] ABCB4 is associated with progressive familial intrahepatic cholestasis type 3.

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5244| accessdate = ]

References

Further reading

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

External links

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