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Gene Review

ABCG8  -  ATP-binding cassette, sub-family G (WHITE)...

Homo sapiens

Synonyms: ATP-binding cassette sub-family G member 8, GBD4, STSL, Sterolin-2
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Disease relevance of ABCG8

  • These results suggest that, in patients with hypercholesterolemia, the ABCG8 D19H variant is associated with greater LDLC-lowering response to atorvastatin therapy [1].
  • The identification of defective structures in the ABCG5 or ABCG8 transporters in patients with the rare disease of sitosterolemia elucidated their role as sterol efflux pumps regulating at least in parts the intestinal sterol absorption and the hepatic sterol output [2].
  • A female subject with each mutation was symptomatic with coronary atherosclerosis: a 5-year-old ABCG8 S107X homozygote and a 75-year-old ABCG5 exon 3 I/D homozygote; these represent the extreme ends of the spectrum of vascular involvement in sitosterolemia [3].
  • Are plasma lipid levels related to ABCG5/ABCG8 polymorphisms? A preliminary study in siblings with gallstones [4].
  • Image in cardiovascular medicine. Aortic xanthomatosis with coronary ostial occlusion in a child homozygous for a nonsense mutation in ABCG8 [5].

High impact information on ABCG8


Biological context of ABCG8


Anatomical context of ABCG8


Associations of ABCG8 with chemical compounds

  • 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].
  • Our results provide a new aspect of biochemical and functional characterization of the ABCG5/ABCG8 proteins and their possible involvement in steroid hormone transport or regulation [15].
  • Upon high level expression of the ABCG5 and ABCG8 proteins in baculovirus-Sf9 cell expression system we found a distinct, vanadate sensitive ATPase activity in isolated membrane preparations only when the two proteins were co-expressed [15].
  • Since biliary sitosterol secretion is preserved, although not elevated in the sitosterolemic mice, this observation suggests that mechanisms other than by Abcg8/sterolin-2 may be responsible for its secretion into bile [16].
  • In summary, on the island of Kosrae, a strong founder effect of a mutant ABCG8 allele results in a large number of carriers with increased plasma plant sterol levels and decreased lathosterol levels [17].

Regulatory relationships of ABCG8

  • In polarized WIF-B cells, recombinant ABCG5 localized to the apical (canalicular) membrane when coexpressed with ABCG8, but not when expressed alone [7].

Other interactions of ABCG8

  • To test this hypothesis, a P1 clone containing the human ABCG5 and ABCG8 genes was used to generate transgenic mice [14].
  • Mutating this LRH-1 binding site reduced promoter activity of the human ABCG5/ABCG8 intergenic region more than 7-fold in HepG2 and Caco2 cells [18].
  • We conclude that the ABCG8 H19 and CYP7A1 C-204 alleles appear to interact in a dose-dependent manner on atorvastatin response [19].

Analytical, diagnostic and therapeutic context of ABCG8


  1. ATP binding cassette transporter G5 and G8 genotypes and plasma lipoprotein levels before and after treatment with atorvastatin. Kajinami, K., Brousseau, M.E., Nartsupha, C., Ordovas, J.M., Schaefer, E.J. J. Lipid Res. (2004) [Pubmed]
  2. Sterol transporters: targets of natural sterols and new lipid lowering drugs. Sudhop, T., Lütjohann, D., von Bergmann, K. Pharmacol. Ther. (2005) [Pubmed]
  3. Phenotypic heterogeneity of sitosterolemia. Wang, J., Joy, T., Mymin, D., Frohlich, J., Hegele, R.A. J. Lipid Res. (2004) [Pubmed]
  4. Are plasma lipid levels related to ABCG5/ABCG8 polymorphisms? A preliminary study in siblings with gallstones. Acalovschi, M., Ciocan, A., Mostean, O., Tirziu, S., Chiorean, E., Keppeler, H., Schirin-Sokhan, R., Lammert, F. Eur. J. Intern. Med. (2006) [Pubmed]
  5. Image in cardiovascular medicine. Aortic xanthomatosis with coronary ostial occlusion in a child homozygous for a nonsense mutation in ABCG8. Mymin, D., Wang, J., Frohlich, J., Hegele, R.A. Circulation (2003) [Pubmed]
  6. Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. Berge, K.E., Tian, H., Graf, G.A., Yu, L., Grishin, N.V., Schultz, J., Kwiterovich, P., Shan, B., Barnes, R., Hobbs, H.H. Science (2000) [Pubmed]
  7. Coexpression of ATP-binding cassette proteins ABCG5 and ABCG8 permits their transport to the apical surface. Graf, G.A., Li, W.P., Gerard, R.D., Gelissen, I., White, A., Cohen, J.C., Hobbs, H.H. J. Clin. Invest. (2002) [Pubmed]
  8. ABCG5 and ABCG8 are obligate heterodimers for protein trafficking and biliary cholesterol excretion. Graf, G.A., Yu, L., Li, W.P., Gerard, R., Tuma, P.L., Cohen, J.C., Hobbs, H.H. J. Biol. Chem. (2003) [Pubmed]
  9. Role of ABCG1 and other ABCG family members in lipid metabolism. Schmitz, G., Langmann, T., Heimerl, S. J. Lipid Res. (2001) [Pubmed]
  10. Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia. Hubacek, J.A., Berge, K.E., Cohen, J.C., Hobbs, H.H. Hum. Mutat. (2001) [Pubmed]
  11. ABCG5 and ABCG8 are expressed in gallbladder epithelial cells. Tauscher, A., Kuver, R. Biochem. Biophys. Res. Commun. (2003) [Pubmed]
  12. New insights into the genetic regulation of intestinal cholesterol absorption. Lammert, F., Wang, D.Q. Gastroenterology (2005) [Pubmed]
  13. Cholesterol and plant sterol absorption: recent insights. von Bergmann, K., Sudhop, T., Lütjohann, D. Am. J. Cardiol. (2005) [Pubmed]
  14. Overexpression of ABCG5 and ABCG8 promotes biliary cholesterol secretion and reduces fractional absorption of dietary cholesterol. Yu, L., Li-Hawkins, J., Hammer, R.E., Berge, K.E., Horton, J.D., Cohen, J.C., Hobbs, H.H. J. Clin. Invest. (2002) [Pubmed]
  15. Co-expression of human ABCG5 and ABCG8 in insect cells generates an androstan stimulated membrane ATPase activity. M??ller, M., Klein, I., Kop??csi, S., Remaley, A.T., Rajnav??lgyi, E., Sarkadi, B., V??radi, A. FEBS Lett. (2006) [Pubmed]
  16. A mouse model of sitosterolemia: absence of Abcg8/sterolin-2 results in failure to secrete biliary cholesterol. Klett, E.L., Lu, K., Kosters, A., Vink, E., Lee, M.H., Altenburg, M., Shefer, S., Batta, A.K., Yu, H., Chen, J., Klein, R., Looije, N., Oude-Elferink, R., Groen, A.K., Maeda, N., Salen, G., Patel, S.B. BMC medicine [electronic resource]. (2004) [Pubmed]
  17. Phytosterolemia on the island of Kosrae: founder effect for a novel ABCG8 mutation results in high carrier rate and increased plasma plant sterol levels. Sehayek, E., Yu, H.J., von Bergmann, K., Lutjohann, D., Stoffel, M., Duncan, E.M., Garcia-Naveda, L., Salit, J., Blundell, M.L., Friedman, J.M., Breslow, J.L. J. Lipid Res. (2004) [Pubmed]
  18. The orphan nuclear receptor LRH-1 activates the ABCG5/ABCG8 intergenic promoter. Freeman, L.A., Kennedy, A., Wu, J., Bark, S., Remaley, A.T., Santamarina-Fojo, S., Brewer, H.B. J. Lipid Res. (2004) [Pubmed]
  19. Interactions between common genetic polymorphisms in ABCG5/G8 and CYP7A1 on LDL cholesterol-lowering response to atorvastatin. Kajinami, K., Brousseau, M.E., Ordovas, J.M., Schaefer, E.J. Atherosclerosis (2004) [Pubmed]
  20. Hepatic expression of ABC transporters G5 and G8 does not correlate with biliary cholesterol secretion in liver transplant patients. Geuken, E., Visser, D.S., Leuvenink, H.G., de Jong, K.P., Peeters, P.M., Slooff, M.J., Kuipers, F., Porte, R.J. Hepatology (2005) [Pubmed]
  21. Localization of ABCG5 and ABCG8 proteins in human liver, gall bladder and intestine. Klett, E.L., Lee, M.H., Adams, D.B., Chavin, K.D., Patel, S.B. BMC gastroenterology [electronic resource]. (2004) [Pubmed]
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