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Gene Review

ABCG5  -  ATP-binding cassette, sub-family G (WHITE)...

Homo sapiens

Synonyms: ATP-binding cassette sub-family G member 5, STSL, Sterolin-1
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Disease relevance of ABCG5

  • 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 [1].
  • 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 [2].
  • Are plasma lipid levels related to ABCG5/ABCG8 polymorphisms? A preliminary study in siblings with gallstones [3].
  • Since these rat strains are also know to carry mutations at other genetic loci and the extent of phytosterolemia is only moderate, it is important to verify that the mutations in Abcg5 are causative for phytosterolemia and whether they contribute to hypertension [4].
  • Flow cytometric analysis of the Th1-Th2 balance in healthy individuals and patients infected with the human immunodeficiency virus (HIV) receiving a plant sterol/sterolin mixture [5].

High impact information on ABCG5

  • We identified seven different mutations in two adjacent, oppositely oriented genes that encode new members of the adenosine triphosphate (ATP)-binding cassette (ABC) transporter family (six mutations in ABCG8 and one in ABCG5) in nine patients with sitosterolemia [6].
  • Both ABCG5 and ABCG8 underwent N-linked glycosylation [7].
  • The Endo H-sensitive forms of ABCG5 and ABCG8 were confined to the endoplasmic reticulum (ER), whereas the mature forms were present in non-ER fractions in cultured hepatocytes [7].
  • Levels of hepatic ABCG5, ABCG8, and MDR3 messenger RNA (mRNA) were strongly correlated [8].
  • In various (genetically modified) murine models, a strong relationship was found between hepatic expression of ABCG5/ABCG8 and biliary cholesterol content [8].

Biological context of ABCG5

  • Mutations in either ABCG5 or ABCG8 result in an identical clinical phenotype, suggesting that these two half-transporters function as heterodimers [9].
  • To test the hypothesis that genetic variation in ABCG5/8 might influence the plasma lipid response to statin therapy, we examined five nonsynonymous polymorphisms at the ABCG5/8 loci (Q604E, D19H, Y54C, T400K, and A632V) in 338 hypercholesterolemic patients treated with 10 mg atorvastatin [10].
  • The ABCG5 and ABCG8 transporters, defective in beta-sitosterolemia, are also now considered interesting targets in the control and influence of total body sterol homeostasis [11].
  • 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 [12].
  • ABCG5 maps to human chromosome 2p21, between the markers D2S117 and D2S119 [13].

Anatomical context of ABCG5


Associations of ABCG5 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 [16].
  • Expression of ABCG5 and ABCG8 is required for regulation of biliary cholesterol secretion [17].
  • Finally, deoxycholic acid repressed the ABCG5 and ABCG8 promoters, consistent with bile acid regulation via the farnesoid X receptor-small heterodimeric partner-LRH-1 pathway [12].
  • 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 [18].
  • 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 [18].

Regulatory relationships of ABCG5

  • The orphan nuclear receptor LRH-1 activates the ABCG5/ABCG8 intergenic promoter [12].
  • 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 ABCG5


Analytical, diagnostic and therapeutic context of ABCG5


  1. Sterol transporters: targets of natural sterols and new lipid lowering drugs. Sudhop, T., Lütjohann, D., von Bergmann, K. Pharmacol. Ther. (2005) [Pubmed]
  2. Phenotypic heterogeneity of sitosterolemia. Wang, J., Joy, T., Mymin, D., Frohlich, J., Hegele, R.A. J. Lipid Res. (2004) [Pubmed]
  3. 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]
  4. The missense mutation in Abcg5 gene in spontaneously hypertensive rats (SHR) segregates with phytosterolemia but not hypertension. Chen, J., Batta, A., Zheng, S., Fitzgibbon, W.R., Ullian, M.E., Yu, H., Tso, P., Salen, G., Patel, S.B. BMC Genet. (2005) [Pubmed]
  5. Flow cytometric analysis of the Th1-Th2 balance in healthy individuals and patients infected with the human immunodeficiency virus (HIV) receiving a plant sterol/sterolin mixture. Breytenbach, U., Clark, A., Lamprecht, J., Bouic, P. Cell Biol. Int. (2001) [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. 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]
  9. 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]
  10. 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]
  11. Role of ABCG1 and other ABCG family members in lipid metabolism. Schmitz, G., Langmann, T., Heimerl, S. J. Lipid Res. (2001) [Pubmed]
  12. 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]
  13. An ATP-binding cassette gene (ABCG5) from the ABCG (White) gene subfamily maps to human chromosome 2p21 in the region of the Sitosterolemia locus. Shulenin, S., Schriml, L.M., Remaley, A.T., Fojo, S., Brewer, B., Allikmets, R., Dean, M. Cytogenet. Cell Genet. (2001) [Pubmed]
  14. ABCG5 and ABCG8 are expressed in gallbladder epithelial cells. Tauscher, A., Kuver, R. Biochem. Biophys. Res. Commun. (2003) [Pubmed]
  15. New insights into the genetic regulation of intestinal cholesterol absorption. Lammert, F., Wang, D.Q. Gastroenterology (2005) [Pubmed]
  16. 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]
  17. Expression of ABCG5 and ABCG8 is required for regulation of biliary cholesterol secretion. Yu, L., Gupta, S., Xu, F., Liverman, A.D., Moschetta, A., Mangelsdorf, D.J., Repa, J.J., Hobbs, H.H., Cohen, J.C. J. Biol. Chem. (2005) [Pubmed]
  18. 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]
  19. ATP-binding cassette (ABC) transporters in human metabolism and diseases. Stefková, J., Poledne, R., Hubácek, J.A. Physiological research / Academia Scientiarum Bohemoslovaca. (2004) [Pubmed]
  20. 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. Lally, S., Tan, C.Y., Owens, D., Tomkin, G.H. Diabetologia (2006) [Pubmed]
  21. 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]
  22. No genetic association between ATP binding cassette proteins and Japanese sporadic Alzheimer's disease. Ohkubo, T., Shibata, N., Ohnuma, T., Higashi, S., Usui, C., Ueki, A., Nagao, M., Arai, H. Dementia and geriatric cognitive disorders. (2005) [Pubmed]
  23. Purification and ATP hydrolysis of the putative cholesterol transporters ABCG5 and ABCG8. Wang, Z., Stalcup, L.D., Harvey, B.J., Weber, J., Chloupkova, M., Dumont, M.E., Dean, M., Urbatsch, I.L. Biochemistry (2006) [Pubmed]
  24. Comparative genome analysis of potential regulatory elements in the ABCG5-ABCG8 gene cluster. Remaley, A.T., Bark, S., Walts, A.D., Freeman, L., Shulenin, S., Annilo, T., Elgin, E., Rhodes, H.E., Joyce, C., Dean, M., Santamarina-Fojo, S., Brewer, H.B. Biochem. Biophys. Res. Commun. (2002) [Pubmed]
  25. Clinical and molecular genetic analysis of a family with sitosterolemia and co-existing erythrocyte and platelet abnormalities. Su, Y., Wang, Z., Yang, H., Cao, L., Liu, F., Bai, X., Ruan, C. Haematologica (2006) [Pubmed]
  26. 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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