ABCG5

Summary

Gene Symbol: ABCG5
Description: ATP binding cassette subfamily G member 5
Alias: STSL, ATP-binding cassette sub-family G member 5, ATP-binding cassette, sub-family G (WHITE), member 5, sterolin 1
Species: human
Products:     ABCG5

Top Publications

  1. Klett E, Lee M, Adams D, Chavin K, Patel S. Localization of ABCG5 and ABCG8 proteins in human liver, gall bladder and intestine. BMC Gastroenterol. 2004;4:21 pubmed
    ..Mutations in either, but not both, of two genes ABCG5 or ABCG8, comprising the STSL locus, are now known to cause this disease and their protein products are proposed ..
  2. Sumi K, Tanaka T, Uchida A, Magoori K, Urashima Y, Ohashi R, et al. Cooperative interaction between hepatocyte nuclear factor 4 alpha and GATA transcription factors regulates ATP-binding cassette sterol transporters ABCG5 and ABCG8. Mol Cell Biol. 2007;27:4248-60 pubmed
    ..The excretion of cholesterol from liver and intestine is regulated by ATP-binding cassette half-transporters ABCG5 and ABCG8...
  3. Rudkowska I, Jones P. Polymorphisms in ABCG5/G8 transporters linked to hypercholesterolemia and gallstone disease. Nutr Rev. 2008;66:343-8 pubmed publisher
    ..This review examines links between polymorphisms of ABC G5 (ABCG5) and G8 (ABCG8) transporter genes to hypercholesterolemia and to gallstone disease risk...
  4. Acalovschi M, Ciocan A, Mostean O, Tirziu S, Chiorean E, Keppeler H, et al. Are plasma lipid levels related to ABCG5/ABCG8 polymorphisms? A preliminary study in siblings with gallstones. Eur J Intern Med. 2006;17:490-4 pubmed
    The role of ABCG5 and ABCG8 genes in the determination of plasma lipid levels is currently under intensive investigation...
  5. Abellan R, Mansego M, Martinez Hervas S, Martin Escudero J, Carmena R, Real J, et al. Association of selected ABC gene family single nucleotide polymorphisms with postprandial lipoproteins: results from the population-based Hortega study. Atherosclerosis. 2010;211:203-9 pubmed publisher
    ..of the study was to determine the influence of twenty single nucleotide polymorphisms (SNPs) of the ABCA1, ABCG1, ABCG5 and ABCG8 genes on the plasmatic concentrations of total cholesterol (TC), HDL and LDL cholesterol (HDLc, LDLc) in ..
  6. Graf G, Yu L, Li W, Gerard R, Tuma P, Cohen J, et al. ABCG5 and ABCG8 are obligate heterodimers for protein trafficking and biliary cholesterol excretion. J Biol Chem. 2003;278:48275-82 pubmed
    b>ABCG5 (G5) and ABCG8 (G8) are ATP-binding cassette (ABC) transporters that limit intestinal absorption and promote biliary excretion of neutral sterols...
  7. Miwa K, Inazu A, Kobayashi J, Higashikata T, Nohara A, Kawashiri M, et al. ATP-binding cassette transporter G8 M429V polymorphism as a novel genetic marker of higher cholesterol absorption in hypercholesterolaemic Japanese subjects. Clin Sci (Lond). 2005;109:183-8 pubmed
    ..Recently, two ABC (ATP-binding cassette) transporters, ABCG5 and ABCG8, have been described as playing an important role in the absorption and excretion of sterols...
  8. Hubacek J, Berge K, Cohen J, Hobbs H. Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia. Hum Mutat. 2001;18:359-60 pubmed
    ..by mutations in two adjacent genes encoding coordinately regulated ATP binding cassette (ABC) half transporters (ABCG5 and ABCG8). In this paper we describe three novel mutations causing sitosterolemia: 1) a frameshift mutation (c...
  9. Weggemans R, Zock P, Tai E, Ordovas J, Molhuizen H, Katan M. ATP binding cassette G5 C1950G polymorphism may affect blood cholesterol concentrations in humans. Clin Genet. 2002;62:226-9 pubmed
    ATP binding cassette protein G5 (ABCG5) and G8 (ABCG8) may be involved in the regulation of intestinal cholesterol absorption...

More Information

Publications84

  1. Caamaño J, Pacheco A, Lanas F, Salazar L. Single nucleotide polymorphisms in ABCG5 and ABCG8 genes in Chilean subjects with polygenic hypercholesterolemia and controls. Clin Chem Lab Med. 2008;46:1581-5 pubmed publisher
    The excretion of cholesterol from liver and intestine is regulated by ATP-binding cassette half-transporters ABCG5 and ABCG8. Polymorphisms in their genes have been related to higher levels of plasma lipids...
  2. Chen Z, Shin S, Kuo K, Lin K, Yu M, Hsiao P. Significant association of ABCG8:D19H gene polymorphism with hypercholesterolemia and insulin resistance. J Hum Genet. 2008;53:757-63 pubmed publisher
    ..The ATP-binding cassette (ABC) transporters ABCG5 and ABCG8 act as a sterol efflux pump to regulate the absorption of cholesterol and phytosterol...
  3. Wang Y, Jiang Z, Fei J, Xin L, Cai Q, Jiang Z, et al. ATP binding cassette G8 T400K polymorphism may affect the risk of gallstone disease among Chinese males. Clin Chim Acta. 2007;384:80-5 pubmed
    ..a possible association between transporter gene polymorphism and gallstone formation, we examined five common polymorphisms in the ABCG5 (Q604E) and ABCG8 (D19H, Y54C, T400K, A632V) genes in patients with gallstone disease (GS).
  4. Grunhage F, Acalovschi M, Tirziu S, Walier M, Wienker T, Ciocan A, et al. Increased gallstone risk in humans conferred by common variant of hepatic ATP-binding cassette transporter for cholesterol. Hepatology. 2007;46:793-801 pubmed
    ..scans of inbred strains of mice have linked the genes encoding the hepatocanalicular cholesterol transporter ABCG5/G8 to gallstone formation...
  5. Graf G, Li W, Gerard R, Gelissen I, White A, Cohen J, et al. Coexpression of ATP-binding cassette proteins ABCG5 and ABCG8 permits their transport to the apical surface. J Clin Invest. 2002;110:659-69 pubmed
    ..To determine the site of action of ABCG5 and ABCG8, we expressed recombinant, epitope-tagged mouse ABCG5 and ABCG8 in cultured cells...
  6. Kuo K, Shin S, Chen Z, Yang Y, Yang J, Hsiao P. Significant association of ABCG5 604Q and ABCG8 D19H polymorphisms with gallstone disease. Br J Surg. 2008;95:1005-11 pubmed publisher
    Adenosine triphosphate-binding cassette (ABC) transporters ABCG5 and ABCG8 are sterol export pumps regulating biliary cholesterol excretion...
  7. Santosa S, Demonty I, Lichtenstein A, Ordovas J, Jones P. Single nucleotide polymorphisms in ABCG5 and ABCG8 are associated with changes in cholesterol metabolism during weight loss. J Lipid Res. 2007;48:2607-13 pubmed
    ..changes in cholesterol metabolism after weight loss were affected by single nucleotide polymorphisms (SNPs) in ABCG5 and ABCG8 genes. Thirty-five hypercholesterolemic women lost 11.7 +/- 2.5 kg (P < 0.001)...
  8. Katsika D, Magnusson P, Krawczyk M, Grunhage F, Lichtenstein P, Einarsson C, et al. Gallstone disease in Swedish twins: risk is associated with ABCG8 D19H genotype. J Intern Med. 2010;268:279-85 pubmed publisher
    Recently, variants of the hepatocanalicular cholesterol hemitransporters ABCG5/8 were linked to gallstone disease; ABCG8 D19H in Caucasians and ABCG5 Q604E in Chinese...
  9. Lu K, Lee M, Hazard S, Brooks Wilson A, Hidaka H, Kojima H, et al. Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively. Am J Hum Genet. 2001;69:278-90 pubmed
    ..Recently, we reported that a novel member of the ABC-transporter family, named "sterolin-1" and encoded by ABCG5, is mutated in 9 unrelated families with sitosterolemia; in the remaining 25 families, no mutations in sterolin-1 ..
  10. Torres N, Guevara Cruz M, Granados J, Vargas Alarcon G, González Palacios B, Ramos Barragan V, et al. Reduction of serum lipids by soy protein and soluble fiber is not associated with the ABCG5/G8, apolipoprotein E, and apolipoprotein A1 polymorphisms in a group of hyperlipidemic Mexican subjects. Nutr Res. 2009;29:728-35 pubmed publisher
    ..the association between responsiveness to the diet and the frequency of apolipoprotein (Apo) E and ApoA1 and ABCG5/8 polymorphisms...
  11. Zhao H, Houweling A, Vanstone C, Jew S, Trautwein E, Duchateau G, et al. Genetic variation in ABC G5/G8 and NPC1L1 impact cholesterol response to plant sterols in hypercholesterolemic men. Lipids. 2008;43:1155-64 pubmed publisher
    ATP-binding cassette hetero-dimeric transporters G5 and G8 (ABCG5/G8) have been postulated to mediate intestinal cholesterol efflux, whereas Niemann-Pick C1 Like 1 (NPC1L1) protein is believed to be essential for intestinal cholesterol ..
  12. Remaley A, Bark S, Walts A, Freeman L, Shulenin S, Annilo T, et al. Comparative genome analysis of potential regulatory elements in the ABCG5-ABCG8 gene cluster. Biochem Biophys Res Commun. 2002;295:276-82 pubmed
    The excretion of sterols from the liver and intestine is regulated by the ABCG5 and ABCG8 transporters...
  13. Yu L, Li Hawkins J, Hammer R, Berge K, Horton J, Cohen J, et al. Overexpression of ABCG5 and ABCG8 promotes biliary cholesterol secretion and reduces fractional absorption of dietary cholesterol. J Clin Invest. 2002;110:671-80 pubmed
    Two ATP-binding cassette (ABC) transporters, ABCG5 and ABCG8, have been proposed to limit sterol absorption and to promote biliary sterol excretion in humans...
  14. Kajinami K, Brousseau M, Nartsupha C, Ordovas J, Schaefer E. ATP binding cassette transporter G5 and G8 genotypes and plasma lipoprotein levels before and after treatment with atorvastatin. J Lipid Res. 2004;45:653-6 pubmed
    ..has been shown that hepatic cholesterol synthesis is associated with ATP binding cassette transporter G5 and G8 (ABCG5/8) activities...
  15. Junyent M, Tucker K, Smith C, Lane J, Mattei J, Lai C, et al. The effects of ABCG5/G8 polymorphisms on HDL-cholesterol concentrations depend on ABCA1 genetic variants in the Boston Puerto Rican Health Study. Nutr Metab Cardiovasc Dis. 2010;20:558-66 pubmed publisher
    ATP-binding cassette transporters G5/G8 (ABCG5/G8) are associated with HDL-C concentrations...
  16. Jiang Z, Parini P, Eggertsen G, Davis M, Hu H, Suo G, et al. Increased expression of LXR alpha, ABCG5, ABCG8, and SR-BI in the liver from normolipidemic, nonobese Chinese gallstone patients. J Lipid Res. 2008;49:464-72 pubmed
    ..The mRNA levels of ABCG5, ABCG8, and liver X receptor alpha (LXRalpha) in the gallstone patients were increased by 51, 59, and 102%, ..
  17. Junyent M, Tucker K, Smith C, Garcia Rios A, Mattei J, Lai C, et al. The effects of ABCG5/G8 polymorphisms on plasma HDL cholesterol concentrations depend on smoking habit in the Boston Puerto Rican Health Study. J Lipid Res. 2009;50:565-73 pubmed publisher
    ..Our objective was to assess whether the association of common single-nucleotide polymorphisms (SNPs) at ABCG5/G8 (i18429G>A, i7892T>C, Gln604GluC>G, 5U145A>C, Tyr54CysA>G, Asp19HisG>C, i14222A>G, and ..
  18. Berge K, Tian H, Graf G, Yu L, Grishin N, Schultz J, et al. Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. Science. 2000;290:1771-5 pubmed
    ..of the adenosine triphosphate (ATP)-binding cassette (ABC) transporter family (six mutations in ABCG8 and one in ABCG5) in nine patients with sitosterolemia...
  19. Hubacek J, Berge K, Stefkova J, Pitha J, Skodova Z, Lanska V, et al. Polymorphisms in ABCG5 and ABCG8 transporters and plasma cholesterol levels. Physiol Res. 2004;53:395-401 pubmed
    b>ABCG5 and ABCG8 transporters play an important role in the absorption and excretion of sterols...
  20. Kajinami K, Brousseau M, Ordovas J, Schaefer E. Interactions between common genetic polymorphisms in ABCG5/G8 and CYP7A1 on LDL cholesterol-lowering response to atorvastatin. Atherosclerosis. 2004;175:287-93 pubmed
    Cholesterol excretion by ATP binding cassette transporters G5 and G8 (ABCG5/G8) and bile acid biosynthesis by cholesterol 7alpha-hydroxylase (CYP7A1) are major pathways for the removal of cholesterol into bile...
  21. Buch S, Schafmayer C, Volzke H, Becker C, Franke A, von Eller Eberstein H, et al. A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. Nat Genet. 2007;39:995-9 pubmed
    ..6, P = 1.4 x 10(-14)) in the full German sample. Association was stronger in subjects with cholesterol gallstones (odds ratio = 3.3), suggesting that His19 might be associated with a more efficient transport of cholesterol into the bile...
  22. Gylling H, Hallikainen M, Pihlajamaki J, Agren J, Laakso M, Rajaratnam R, et al. Polymorphisms in the ABCG5 and ABCG8 genes associate with cholesterol absorption and insulin sensitivity. J Lipid Res. 2004;45:1660-5 pubmed
    The roles of polymorphisms of the sitosterolemia genes ABCG5 and ABCG8 in the regulation of cholesterol metabolism and insulin sensitivity were studied in mildly hypercholesterolemic noncoronary subjects (n = 263, 144 men and 119 women) ..
  23. Freeman L, Kennedy A, Wu J, Bark S, Remaley A, Santamarina Fojo S, et al. The orphan nuclear receptor LRH-1 activates the ABCG5/ABCG8 intergenic promoter. J Lipid Res. 2004;45:1197-206 pubmed
    The ATP binding cassette (ABC) half-transporters ABCG5 and ABCG8 facilitate biliary and intestinal removal of neutral sterols...
  24. Plat J, Bragt M, Mensink R. Common sequence variations in ABCG8 are related to plant sterol metabolism in healthy volunteers. J Lipid Res. 2005;46:68-75 pubmed
    Polymorphisms in the ATP binding cassette (ABC) transporters ABCG5 and ABCG8 are related to plasma plant sterol concentrations...
  25. Garcia Rios A, Perez Martinez P, Fuentes F, Mata P, Lopez Miranda J, Alonso R, et al. Genetic variations at ABCG5/G8 genes modulate plasma lipids concentrations in patients with familial hypercholesterolemia. Atherosclerosis. 2010;210:486-92 pubmed publisher
    To investigate the association of four common single nucleotide polymorphisms (SNPs) at ABCG5 (i7892A>G, i18429C>T, Gln604GluC>G, i11836G>A) and five at ABCG8 (5U145T>G, Tyr54CysA>G, Asp19HisG>C, i14222T>C, and ..
  26. Viturro E, de Oya M, Lasunción M, Gorgojo L, Moreno J, Benavente M, et al. Cholesterol and saturated fat intake determine the effect of polymorphisms at ABCG5/ABCG8 genes on lipid levels in children. Genet Med. 2006;8:594-9 pubmed
    ..Thus, we analyzed polymorphisms in the ABCG5 and ABCG8 genes, involved in the regulation of intestinal cholesterol absorption, with special interest in a ..
  27. Jakulj L, Vissers M, Tanck M, Hutten B, Stellaard F, Kastelein J, et al. ABCG5/G8 polymorphisms and markers of cholesterol metabolism: systematic review and meta-analysis. J Lipid Res. 2010;51:3016-23 pubmed publisher
    Genetic variation at the ABCG5/G8 locus has been associated with markers of cholesterol homeostasis. As data originate from small-scale studies, we performed a meta-analysis to study these associations in a large dataset...
  28. Herron K, McGrane M, Waters D, Lofgren I, Clark R, Ordovas J, et al. The ABCG5 polymorphism contributes to individual responses to dietary cholesterol and carotenoids in eggs. J Nutr. 2006;136:1161-5 pubmed
    The ATP binding cassette G5 (ABCG5) polymorphisms have been postulated to play a role in the response to dietary cholesterol...
  29. Turley S, Valasek M, Repa J, Dietschy J. Multiple mechanisms limit the accumulation of unesterified cholesterol in the small intestine of mice deficient in both ACAT2 and ABCA1. Am J Physiol Gastrointest Liver Physiol. 2010;299:G1012-22 pubmed publisher
    ..the relative mRNA level for Niemann-Pick C1-like 1 (NPC1L1) and an increase in the mRNA level for both ABCA1 and ABCG5/8. All these changes were reversed by ezetimibe...
  30. Tsubakio Yamamoto K, Nishida M, Nakagawa Toyama Y, Masuda D, Ohama T, Yamashita S. Current therapy for patients with sitosterolemia--effect of ezetimibe on plant sterol metabolism. J Atheroscler Thromb. 2010;17:891-900 pubmed
    ..plant sterol concentrations, caused by mutations in the adenosine triphosphate-bind-ing cassette (ABC) transporter ABCG5 or ABCG8 genes. Markedly increased serum concentration of plant sterols...
  31. McDaniel A, Alger H, Sawyer J, Kelley K, Kock N, Brown J, et al. Phytosterol feeding causes toxicity in ABCG5/G8 knockout mice. Am J Pathol. 2013;182:1131-8 pubmed publisher
    ..To determine the significance of phytosterol exclusion from the body, we fed wild-type and ABCG5/G8 knockout mice a diet enriched with plant sterols...
  32. Togo M, Hashimoto Y, Iso O N, Kurano M, Hara M, Kadowaki T, et al. Identification of a novel mutation for phytosterolemia. Genetic analyses of 2 cases. Clin Chim Acta. 2009;401:165-9 pubmed publisher
    ..The mutations in ABCG5 and ABCG8 genes, encoding sterolin-1 and -2, respectively, are responsible for phytosterolemia.
  33. Kosters A, Frijters R, Kunne C, Vink E, Schneiders M, Schaap F, et al. Diosgenin-induced biliary cholesterol secretion in mice requires Abcg8. Hepatology. 2005;41:141-50 pubmed
    ..in mice without affecting the expression of the adenosine triphosphate-binding cassette transporter heterodimer Abcg5/g8...
  34. Khovidhunkit W, Moser A, Shigenaga J, Grunfeld C, Feingold K. Endotoxin down-regulates ABCG5 and ABCG8 in mouse liver and ABCA1 and ABCG1 in J774 murine macrophages: differential role of LXR. J Lipid Res. 2003;44:1728-36 pubmed
    ..In the liver, ABCG5 and ABCG8 have been proposed to efflux sterols into the bile for excretion...
  35. de Miranda A, Rossoni Júnior J, Souza E Silva L, Dos Santos R, Silva M, Pedrosa M. Agaricus brasiliensis (sun mushroom) affects the expression of genes related to cholesterol homeostasis. Eur J Nutr. 2017;56:1707-1717 pubmed publisher
    ..Increased expression of 7α-hydroxylase (CYP7A1), ATP-binding cassette subfamily G-transporters (ABCG5/G8), and low-density lipoprotein receptor (LDLR) was observed following A. brasiliensis administration...
  36. Castro Torres I, de Jesús Cárdenas Vázquez R, Velázquez González C, Ventura Martínez R, De la O Arciniega M, Naranjo Rodríguez E, et al. Future therapeutic targets for the treatment and prevention of cholesterol gallstones. Eur J Pharmacol. 2015;765:366-74 pubmed publisher
    ..involves very complex imbalances, such as alterations in the secretion of biliary lipids (which involves the ABCG5, ABCG8, ABCB4 and ABCB11 transporters), biochemical and immunological reactions in the gallbladder that produce ..
  37. Yamamoto T, Matsuda J, Dateki S, Ouchi K, Fujimoto W. Numerous intertriginous xanthomas in infant: A diagnostic clue for sitosterolemia. J Dermatol. 2016;43:1340-1344 pubmed publisher
    ..or compound heterozygous mutations in one of the two adenosine triphosphate-binding cassette transporter genes, ABCG5 and ABCG8...
  38. Berge K, von Bergmann K, Lutjohann D, Guerra R, Grundy S, Hobbs H, et al. Heritability of plasma noncholesterol sterols and relationship to DNA sequence polymorphism in ABCG5 and ABCG8. J Lipid Res. 2002;43:486-94 pubmed
  39. Stender S, Frikke Schmidt R, Nordestgaard B, Tybjærg Hansen A. The ABCG5/8 cholesterol transporter and myocardial infarction versus gallstone disease. J Am Coll Cardiol. 2014;63:2121-2128 pubmed publisher
    The study sought to test the hypothesis that genetic variation in ABCG5/8, the transporter responsible for intestinal and hepatobiliary cholesterol efflux, may simultaneously influence plasma and biliary cholesterol levels, and hence ..
  40. Field F, Born E, Mathur S. Stanol esters decrease plasma cholesterol independently of intestinal ABC sterol transporters and Niemann-Pick C1-like 1 protein gene expression. J Lipid Res. 2004;45:2252-9 pubmed
    ..ABCA1, ATP binding cassette G1 (ABCG1), ABCG5, ABCG8, and Niemann-Pick C1-like 1 (NPC1L1) mRNA levels were then estimated in duodenum, jejunum, and ileum...
  41. Gylling H, Hallikainen M, Kolehmainen M, Toppinen L, Pihlajamaki J, Mykkanen H, et al. Cholesterol synthesis prevails over absorption in metabolic syndrome. Transl Res. 2007;149:310-6 pubmed
    ..of cholesterol and was related to variables of glucose and insulin action and to the common polymorphisms of the ABCG5 and ABCG8 genes...
  42. Zhong C, Sun W, Ma Y, Zhu H, Yang P, Wei H, et al. Microbiota prevents cholesterol loss from the body by regulating host gene expression in mice. Sci Rep. 2015;5:10512 pubmed publisher
    ..plasma and hepatic cholesterol, and likely caused by reduced expression of NPC1L1 and increased expression of ABCG5 and ABCG8 in small intestine...
  43. Kato M, Ito Y, Tanaka Y, Sato M, Imaizumi K, Inoue N, et al. SHRSP/Izm and WKY/NCrlCrlj rats having a missense mutation in Abcg5 deposited plant sterols in the body, but did not change their biliary secretion and lymphatic absorption-comparison with Jcl:Wistar and WKY/Izm rats. Biosci Biotechnol Biochem. 2012;76:660-4 pubmed
    ..hypertensive rats (SHRSP)/Sea and Wistar Kyoto (WKY)/NCrlCrlj rats that had a missense mutation in the Abcg5 cDNA sequence that coded for ATP-binding cassette transporter (ABC) G5...
  44. Calpe Berdiel L, Rotllan N, Fievet C, Roig R, Blanco Vaca F, Escola Gil J. Liver X receptor-mediated activation of reverse cholesterol transport from macrophages to feces in vivo requires ABCG5/G8. J Lipid Res. 2008;49:1904-11 pubmed publisher
    ..In this study, we assessed the effects of ABCG5/G8 deficiency as well as those of LXR agonist-induction of RCT from macrophages to feces in vivo...
  45. Kusuhara H, Sugiyama Y. ATP-binding cassette, subfamily G (ABCG family). Pflugers Arch. 2007;453:735-44 pubmed
    ..of the ATP-binding cassette, subfamily G (ABCG family), which has five members: ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8...
  46. Joyce C, Wagner E, Basso F, Amar M, Freeman L, Shamburek R, et al. ABCA1 overexpression in the liver of LDLr-KO mice leads to accumulation of pro-atherogenic lipoproteins and enhanced atherosclerosis. J Biol Chem. 2006;281:33053-65 pubmed
    ..livers; however, no differences were observed in the hepatic expression of CYP7alpha1, CYP27alpha1, or ABCG5/G8 between ABCA1-Tg and control mice...
  47. von Schönfels W, Buch S, Wölk M, Aselmann H, Egberts J, Schreiber S, et al. Recurrence of gallstones after cholecystectomy is associated with ABCG5/8 genotype. J Gastroenterol. 2013;48:391-6 pubmed publisher
    ..As yet, variant ABCG8-D19H is the most widely recognized genetic risk factor for gallstone disease. The aim of the study is to investigate whether ABCG8-D19H is associated with gallstone recurrence after cholecystectomy...
  48. Kosters A, Frijters R, Schaap F, Vink E, Plosch T, Ottenhoff R, et al. Relation between hepatic expression of ATP-binding cassette transporters G5 and G8 and biliary cholesterol secretion in mice. J Hepatol. 2003;38:710-6 pubmed
    Mutations in genes encoding the ATP-binding cassette (ABC)-transporters ABCG5 and ABCG8 underlie sitosterolemia, which is characterized by elevated plasma levels of phytosterols due to increased intestinal absorption and impaired biliary ..
  49. Wittenburg H, Lyons M, Li R, Kurtz U, Mossner J, Churchill G, et al. Association of a lithogenic Abcg5/Abcg8 allele on Chromosome 17 (Lith9) with cholesterol gallstone formation in PERA/EiJ mice. Mamm Genome. 2005;16:495-504 pubmed
    ..Significantly higher mRNA expression of Abcg5 and Abcg8 in strain PERA compared with strains I/Ln and DBA/2 further substantiated that the PERA allele of Abcg5/..
  50. Lee E, Lee D, Kim H, Ahn S, Seong H, Jung W, et al. Cyp7a1 is continuously increased with disrupted Fxr-mediated feedback inhibition in hypercholesterolemic TALLYHO/Jng mice. Biochim Biophys Acta Mol Cell Biol Lipids. 2018;1863:20-25 pubmed publisher
    ..and protein levels of cholesterol 7 alpha-hydroxylase (Cyp7a1) and the ATP-binding cassette sub-family G member 5 (Abcg5) were elevated in the liver but not in the apical sodium bile acid transporter (Asbt) and organic solute ..
  51. Wang Y, Su K, Sabeva N, Ji A, van der Westhuyzen D, Foufelle F, et al. GRP78 rescues the ABCG5 ABCG8 sterol transporter in db/db mice. Metabolism. 2015;64:1435-43 pubmed publisher
    ..Leptin signaling does not directly regulate G5G8 abundance. The loss of G5G8 in mice harboring defects in the leptin axis is likely associated with compromised ER function. ..
  52. Yu X, Qian K, Jiang N, Zheng X, Cayabyab F, Tang C. ABCG5/ABCG8 in cholesterol excretion and atherosclerosis. Clin Chim Acta. 2014;428:82-8 pubmed publisher
    ..ATP-binding cassette (ABC) transporters G5 (ABCG5) and G8 (ABCG8) form an obligate heterodimer that limits intestinal absorption and facilitates biliary secretion ..
  53. Lee M, Lu K, Hazard S, Yu H, Shulenin S, Hidaka H, et al. Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. Nat Genet. 2001;27:79-83 pubmed
    ..H.L. et al., manuscript submitted). We now report that a new member of the ABC transporter family, ABCG5, is mutant in nine unrelated sitosterolemia patients.
  54. Vrins C, Vink E, Vandenberghe K, Frijters R, Seppen J, Groen A. The sterol transporting heterodimer ABCG5/ABCG8 requires bile salts to mediate cholesterol efflux. FEBS Lett. 2007;581:4616-20 pubmed
    The ATP binding cassette transporters ABCG5 and ABCG8 are indispensable for hepatobiliary cholesterol transport. In this study, we investigated the specificity of the heterodimer for cholesterol acceptors...
  55. Albrecht C, Elliott J, Sardini A, Litman T, Stieger B, Meier P, et al. Functional analysis of candidate ABC transporter proteins for sitosterol transport. Biochim Biophys Acta. 2002;1567:133-42 pubmed
    Two ATP-binding cassette (ABC) proteins, ABCG5 and ABCG8, have recently been associated with the accumulation of dietary cholesterol in the sterol storage disease sitosterolemia...
  56. Van Eck M, Twisk J, Hoekstra M, Van Rij B, Van der Lans C, Bos I, et al. Differential effects of scavenger receptor BI deficiency on lipid metabolism in cells of the arterial wall and in the liver. J Biol Chem. 2003;278:23699-705 pubmed
    ..a approximately 40% reduction in biliary cholesterol content was observed, and the expression of ABCG8 and ABCG5, ATP half-transporters implicated in the transport of sterols from the liver to the bile, was attenuated by 70 and ..
  57. Van Straten E, Huijkman N, Baller J, Kuipers F, Plosch T. Pharmacological activation of LXR in utero directly influences ABC transporter expression and function in mice but does not affect adult cholesterol metabolism. Am J Physiol Endocrinol Metab. 2008;295:E1341-8 pubmed publisher
    ..015% wt/wt) led to induced fetal hepatic expression levels of the cholesterol transporter genes Abcg5/g8 and Abca1, higher plasma cholesterol levels, and lower hepatic cholesterol levels compared with controls...
  58. Orlowski S, Comera C, Tercé F, Collet X. Lipid rafts: dream or reality for cholesterol transporters?. Eur Biophys J. 2007;36:869-85 pubmed
    ..believed to mediate for instance the intestinal absorption of cholesterol, that are SR-BI, NPC1L1, ABCA1, ABCG1, ABCG5/G8 and even P-glycoprotein, all present privileged functional relationships with membrane cholesterol-containing ..
  59. Engel T, Bode G, Lueken A, Knop M, Kannenberg F, Nofer J, et al. Expression and functional characterization of ABCG1 splice variant ABCG1(666). FEBS Lett. 2006;580:4551-9 pubmed
    ..Our results support that ABCG1(666) may in fact be the most prominent form of functional ABCG1 expressed in the human...
  60. Lally S, Tan C, Owens D, Tomkin G. Messenger RNA levels of genes involved in dysregulation of postprandial lipoproteins in type 2 diabetes: the role of Niemann-Pick C1-like 1, ATP-binding cassette, transporters G5 and G8, and of microsomal triglyceride transfer protein. Diabetologia. 2006;49:1008-16 pubmed
    ..C1-like 1 (NPC1L1), which regulates cholesterol absorption; (2) ATP-binding cassette transporters G5 and G8 (ABCG5, ABCG8), which regulate cholesterol homeostasis through their ability to excrete enterocyte cholesterol back into ..
  61. Bao L, Li C, Peng R, Ren X, Ma R, Wang Y, et al. Correlation between the decrease of cholesterol efflux from macrophages in patients with type II diabetes mellitus and down-regulated CYP7A1 expression. Genet Mol Res. 2015;14:8716-24 pubmed publisher
    ..from macrophages in patients with type II diabetes mellitus (DM), and to determine the expression of CYP7A1, ABCG5, and LXRβ therein...
  62. Imai S, Kikuchi R, Kusuhara H, Yagi S, Shiota K, Sugiyama Y. Analysis of DNA methylation and histone modification profiles of liver-specific transporters. Mol Pharmacol. 2009;75:568-76 pubmed publisher
    ..tissue-specific expression of mouse liver-specific transporters (Oatp1b2/Slco1b2, Ntcp/Slc10a1, Bsep/Abcb11, and Abcg5/g8)...
  63. Dikkers A, Freak de Boer J, Annema W, Groen A, Tietge U. Scavenger receptor BI and ABCG5/G8 differentially impact biliary sterol secretion and reverse cholesterol transport in mice. Hepatology. 2013;58:293-303 pubmed publisher
    ..Using Sr-bI/Abcg5 double knockout mice (dko), the present study investigated the differential contribution of two of the most ..
  64. Berge K. Sitosterolemia: a gateway to new knowledge about cholesterol metabolism. Ann Med. 2003;35:502-11 pubmed
    ..b>abcg5 or abcg8...
  65. Valasek M, Weng J, Shaul P, Anderson R, Repa J. Caveolin-1 is not required for murine intestinal cholesterol transport. J Biol Chem. 2005;280:28103-9 pubmed
    ..levels of genes sensitive to intracellular cholesterol concentration (ATP-binding cassette transporters ABCA1 and ABCG5, hydroxymethylglutaryl-CoA synthase and the LDL receptor) are similarly altered in the proximal intestinal mucosa ..
  66. Duan L, Wang H, Ohashi A, Wang D. Role of intestinal sterol transporters Abcg5, Abcg8, and Npc1l1 in cholesterol absorption in mice: gender and age effects. Am J Physiol Gastrointest Liver Physiol. 2006;290:G269-76 pubmed
    ..significantly augmented cholesterol absorption mostly due to an upregulated expression of intestinal Npc1l1, Abcg5, and Abcg8 via the intestinal ERalpha pathway, which can be fully abolished by the antagonist...
  67. Geuken E, Visser D, Leuvenink H, de Jong K, Peeters P, Slooff M, et al. Hepatic expression of ABC transporters G5 and G8 does not correlate with biliary cholesterol secretion in liver transplant patients. Hepatology. 2005;42:1166-74 pubmed
    The adenosine triphosphate (ATP)-binding cassette (ABC)-transporters ABCG5 and ABCG8 have been shown to mediate hepatic and intestinal excretion of cholesterol...
  68. Othman R, Myrie S, Jones P. Non-cholesterol sterols and cholesterol metabolism in sitosterolemia. Atherosclerosis. 2013;231:291-9 pubmed publisher
    Sitosterolemia (STSL) is a rare autosomal recessive disease, manifested by extremely elevated plant sterols (PS) in plasma and tissue, leading to xanthoma and premature atherosclerotic disease...
  69. Ohkubo T, Shibata N, Ohnuma T, Higashi S, Usui C, Ueki A, et al. No genetic association between ATP binding cassette proteins and Japanese sporadic Alzheimer's disease. Dement Geriatr Cogn Disord. 2005;20:95-8 pubmed
    ..Recent studies have suggested that the ATP-binding cassette (ABC) protein G5 (ABCG5) may be involved in the regulation of intestinal cholesterol absorption...
  70. Nicolas A, Fatima S, Lamri A, Bellili Muñoz N, Halimi J, Saulnier P, et al. ABCG8 polymorphisms and renal disease in type 2 diabetic patients. Metabolism. 2015;64:713-9 pubmed publisher
    ..The ATP-binding cassette transporters G5 and G8 (ABCG5 and ABCG8) play an important role in intestinal sterol absorption and bile acid secretion...
  71. von Kampen O, Buch S, Nothnagel M, Azocar L, Molina H, Brosch M, et al. Genetic and functional identification of the likely causative variant for cholesterol gallstone disease at the ABCG5/8 lithogenic locus. Hepatology. 2013;57:2407-17 pubmed publisher
    The sterolin locus (ABCG5/ABCG8) confers susceptibility for cholesterol gallstone disease in humans...
  72. Brewer H, Santamarina Fojo S. New insights into the role of the adenosine triphosphate-binding cassette transporters in high-density lipoprotein metabolism and reverse cholesterol transport. Am J Cardiol. 2003;91:3E-11E pubmed
    Four adenosine triphosphate-binding cassette (ABC) transporters-ABCA1, ABCG1, ABCG5, and ABCG8-have been identified and shown to modulate cholesterol and lipoprotein metabolism...
  73. Borel P. Genetic variations involved in interindividual variability in carotenoid status. Mol Nutr Food Res. 2012;56:228-40 pubmed publisher
    ..Other proteins, such as ATP-binding cassette subfamily G member 5 (ABCG5) and the fatty acid-binding proteins (FABPs) are also apparently involved although firmer evidence is still ..
  74. Wang H, Patel S, Carey M, Wang D. Quantifying anomalous intestinal sterol uptake, lymphatic transport, and biliary secretion in Abcg8(-/-) mice. Hepatology. 2007;45:998-1006 pubmed
    Sitosterolemia is caused by mutations in either ABCG5 or ABCG8, but simultaneous mutations of these genes have never been observed...
  75. Lam C, Cheng A, Tong S, Chan Y. Novel donor splice site mutation of ABCG5 gene in sitosterolemia. Mol Genet Metab. 2002;75:178-80 pubmed
    ..patient with sitosterolemia, we found two different mutations of the ATP-binding cassette, subfamily G, member 5 (ABCG5) gene...