ABCB4

ABCB4
??????
????? ?????	ABCB4 , ABC21, GBD1, ICP3, MDR2, MDR2/3, MDR3, PFIC-3, PGY3, ATP binding cassette subfamily B member 4
?????? ??????	??????? ???????? ??????? ??? ???????? 171060 MGI: MGI:97569 HomoloGene: 136368 GeneCards: 5244
??? ??????? ????????	7.6.2.2
??? ?????? ??????
????? ??????	? ATPase-coupled transmembrane transporter activity ; ? nucleotide binding ; ? ABC-type xenobiotic transporter activity ; ? phosphatidylcholine transporter activity ; ? phosphatidylcholine floppase activity ; ? ATPase activity ; ? ?GO:0001948? ?GO:0016582 ??? ??????? ; ? ???? ???????? ; ? ATP binding ; ? phospholipid transporter activity ; ? ceramide floppase activity ;
?????? ?????	? ????????? ; ? ???? ?????? ?????? ; ? ???? ; ? ???? ???? ; ? integral component of plasma membrane ; ? intercellular canaliculus ; ? apical plasma membrane ; ? ?????? ????? ; ? ?????? ???? ????? ; ? ?GO:0016023 ?????? ??????????? ; ? clathrin-coated vesicle ; ? ????? ???? ; ? ????? ????? ; ? ???????? ????? ; ? actin cytoskeleton ; ? brush border membrane ; ? apical part of cell ;
?????? ?????	? lipid transport ; ? cellular response to bile acid ; ? positive regulation of cholesterol transport ; ? positive regulation of phospholipid translocation ; ? xenobiotic transmembrane transport ; ? ??? ????????? ; ? positive regulation of phospholipid transport ; ? response to fenofibrate ; ? xenobiotic transport ; ? ??? ??? ?????? ; ? lipid homeostasis ; ? bile acid secretion ; ? phospholipid translocation ; ? response to hypoxia ; ? ???? ??????? ; ? brain development ; ? ????? ; ? ??? ?????? ; ? hormone transport ; ? response to organic substance ; ? response to mycotoxin ; ? ?GO:1904578 response to organic cyclic compound ; ? response to isoquinoline alkaloid ; ? response to nutrient levels ; ? response to estradiol ; ? response to vitamin A ; ? carbohydrate export ; ? response to vitamin D ; ? maintenance of blood-brain barrier ; ? cellular response to mycotoxin ; ? daunorubicin transport ; ? response to morphine ; ? xenobiotic export ; ? response to cadmium ion ; ? ?????? ???? ; ? negative regulation of cell death ; ? establishment of blood-brain barrier ; ? cellular response to external biotic stimulus ; ? ?GO:1904577 cellular response to antibiotic ; ? cellular response to alkaloid ; ? cellular response to estradiol stimulus ; ? ?GO:1904579 cellular response to organic cyclic compound ; ? cellular hyperosmotic salinity response ; ? response to dexamethasone ; ? cellular response to dexamethasone stimulus ; ? response to thyroxine ; ? response to antineoplastic agent ; ? ceramide translocation ; ? response to L-glutamate ; ? response to glycoside ; ? cellular response to borneol ; ? cellular response to L-glutamate ; ? response to codeine ; ? response to quercetin ; ? response to cyclosporin A ; ? xenobiotic transport across blood-brain barrier ; ? establishment of blood-retinal barrier ; ? positive regulation of response to drug ; ? regulation of lipid metabolic process ; ? regulation of intestinal absorption ; ? ?GO:0015915 ??? ;
	???????: Amigo / QuickGO
??? ??????? ?? ????? ?????? ????????
	?????? ?? ?????? ??????? ????????
??????? ???????
	P21439 ; E7EQI1
	P21440
	?NM_018849? ?NM_018850? ?XM_011516308? ?XM_011516309? ?XM_011516310? ?XM_011516311? ?XM_011516312? ?XM_011516313? ?XM_011516315? ?XM_017012323? ?XR_001744809? ?XR_001744810 NM_000443? ?NM_018849? ?NM_018850? ?XM_011516308? ?XM_011516309? ?XM_011516310? ?XM_011516311? ?XM_011516312? ?XM_011516313? ?XM_011516315? ?XM_017012323? ?XR_001744809? ?XR_001744810
	?XM_006503551? ?XM_006503552? ?XM_006503554? ?XM_036164874 NM_008830? ?XM_006503551? ?XM_006503552? ?XM_006503554? ?XM_036164874
	?NP_061337? ?NP_061338? ?XP_011514610? ?XP_011514611? ?XP_011514612? ?XP_011514613? ?XP_011514614? ?XP_011514615? ?XP_011514617? ?XP_016867812 NP_000434? ?NP_061337? ?NP_061338? ?XP_011514610? ?XP_011514611? ?XP_011514612? ?XP_011514613? ?XP_011514614? ?XP_011514615? ?XP_011514617? ?XP_016867812
	?XP_006503614? ?XP_006503615? ?XP_006503617? ?XP_036020767 NP_032856? ?XP_006503614? ?XP_006503615? ?XP_006503617? ?XP_036020767
	???? ??????
????/???? ?????	????/???? ???

ABCB4 ? ( ATP binding cassette subfamily B member 4 ) ??? ?????? ?????? ?????? ??? ABCB4 ?? ??????? . ^[1]^[2]^[3]

??????? [ ??? ]

??????? ???????? [ ??? ]

??????? [ ??? ]

^ "Entrez Gene: ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4" . ????? ?? ????? ?? 2010-01-12.
^ Van der Bliek AM? Baas F? Ten Houte de Lange T? Kooiman PM? Van der Velde-Koerts T? Borst P (???? 1988). "The human mdr3 gene encodes a novel P-glycoprotein homologue and gives rise to alternatively spliced mRNAs in liver" . The EMBO Journal . ?. 6 ?. 11: 3325?31. PMC : 553787 . PMID : 2892668 .
^ Rosmorduc O? Hermelin B? Poupon R (????? 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 .

????? ?????? [ ??? ]

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 . {{ ??????? ?????? ????? }}: ????? ?????????: ??? ????? ??? ???? ( link )
Mbongo-Kama E? Harnois F? Mennecier D? ?????? (2007). "MDR3 mutations associated with intrahepatic and gallbladder cholesterol cholelithiasis: an update". Annals 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? ?????? (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? ?????? (1994). "Tissue distribution of the human MDR3 P-glycoprotein". Lab. Invest . ?. 71 ?. 5: 638?49. PMID : 7734012 .
Smit JJ? Mol CA? van Deemter L? ?????? (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 . PMID : 7893760 .
Whitington PF? Freese DK? Alonso EM? ?????? (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? ?????? (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? ?????? (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? ?????? (1998). "Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis" . Proceedings of the National Academy of Sciences of the United States of America . ?. 95 ?. 1: 282?7. DOI : 10.1073/pnas.95.1.282 . PMC : 18201 . PMID : 9419367 .
Malorni W? Lucia MB? Rainaldi G? ?????? (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? ?????? (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? ?????? (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? ?????? (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? ?????? (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 . PMID : 12381474 .

??? ???? ????? ?? ??? ??? ???????? 7 ????? ???????. ????? ???? ?? ???????.

[1] "Entrez Gene: ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4" . ????? ?? ????? ?? 2010-01-12.

[2] Van der Bliek AM? Baas F? Ten Houte de Lange T? Kooiman PM? Van der Velde-Koerts T? Borst P (???? 1988). "The human mdr3 gene encodes a novel P-glycoprotein homologue and gives rise to alternatively spliced mRNAs in liver" . The EMBO Journal . ?. 6 ?. 11: 3325?31. PMC : 553787 . PMID : 2892668 .

[3] Rosmorduc O? Hermelin B? Poupon R (????? 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 .

[1]

[2]

[3]

????????? ??????	???? ??????? ???????? ??? ????? (OMIM) : 171060
???????? ????????	Ensembl Transcript ID : ENST00000649586 ???? ????? ?????? ??????? (UMLS CUI) : C1412071