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ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)
Identifiers
Symbols ABCG8; STSL; MGC142217
External IDs OMIM605460 MGI1914720 HomoloGene23361 GeneCards: ABCG8 Gene
Orthologs
Species Human Mouse
Entrez 64241 67470
Ensembl ENSG00000143921 ENSMUSG00000024254
UniProt Q9H221 Q7TSR6
RefSeq (mRNA) NM_022437 XM_985210
RefSeq (protein) NP_071882 XP_990304
Location (UCSC) Chr 2:
43.92 - 43.96 Mb
Chr 17:
84.59 - 84.61 Mb
PubMed search [1] [2]

ATP-binding cassette sub-family G member 8 is a protein that in humans is encoded by the ABCG8 gene.[1][2][3]

The 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 White subfamily. The protein encoded by this gene functions as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. It is expressed in a tissue-specific manner in the liver, colon, and intestine. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG5. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia.[3]

Contents

See also

References

  1. ^ Berge KE, Tian H, Graf GA, Yu L, Grishin NV, Schultz J, Kwiterovich P, Shan B, Barnes R, Hobbs HH (Dec 2000). "Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters". Science 290 (5497): 1771-5. PMID 11099417.  
  2. ^ Grunhage F, Acalovschi M, Tirziu S, Walier M, Wienker TF, Ciocan A, Mosteanu O, Sauerbruch T, Lammert F (Sep 2007). "Increased gallstone risk in humans conferred by common variant of hepatic ATP-binding cassette transporter for cholesterol". Hepatology 46 (3): 793-801. doi:10.1002/hep.21847. PMID 17626266.  
  3. ^ a b "Entrez Gene: ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64241.  

Further reading

  • Schmitz G, Langmann T, Heimerl S (2002). "Role of ABCG1 and other ABCG family members in lipid metabolism.". J. Lipid Res. 42 (10): 1513–20. PMID 11590207.  
  • Lu K, Lee MH, Hazard S, et al. (2001). "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. 69 (2): 278–90. doi:10.1086/321294. PMID 11452359.  
  • Hubacek JA, Berge KE, Cohen JC, Hobbs HH (2002). "Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia.". Hum. Mutat. 18 (4): 359–60. doi:10.1002/humu.1206. PMID 11668628.  
  • Berge KE, von Bergmann K, Lutjohann D, et al. (2002). "Heritability of plasma noncholesterol sterols and relationship to DNA sequence polymorphism in ABCG5 and ABCG8.". J. Lipid Res. 43 (3): 486–94. PMID 11893785.  
  • Lu K, Lee MH, Yu H, et al. (2002). "Molecular cloning, genomic organization, genetic variations, and characterization of murine sterolin genes Abcg5 and Abcg8.". J. Lipid Res. 43 (4): 565–78. PMID 11907139.  
  • Iida A, Saito S, Sekine A, et al. (2002). "Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8.". J. Hum. Genet. 47 (6): 285–310. doi:10.1007/s100380200041. PMID 12111378.  
  • Heimerl S, Langmann T, Moehle C, et al. (2002). "Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia.". Hum. Mutat. 20 (2): 151. doi:10.1002/humu.9047. PMID 12124998.  
  • Remaley AT, Bark S, Walts AD, et al. (2002). "Comparative genome analysis of potential regulatory elements in the ABCG5-ABCG8 gene cluster.". Biochem. Biophys. Res. Commun. 295 (2): 276–82. doi:10.1016/S0006-291X(02)00652-6. PMID 12150943.  
  • Graf GA, Li WP, Gerard RD, et al. (2002). "Coexpression of ATP-binding cassette proteins ABCG5 and ABCG8 permits their transport to the apical surface.". J. Clin. Invest. 110 (5): 659–69. PMID 12208867.  
  • Yu L, Li-Hawkins J, Hammer RE, et al. (2002). "Overexpression of ABCG5 and ABCG8 promotes biliary cholesterol secretion and reduces fractional absorption of dietary cholesterol.". J. Clin. Invest. 110 (5): 671–80. PMID 12208868.  
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.  
  • Graf GA, Yu L, Li WP, et al. (2004). "ABCG5 and ABCG8 are obligate heterodimers for protein trafficking and biliary cholesterol excretion.". J. Biol. Chem. 278 (48): 48275–82. doi:10.1074/jbc.M310223200. PMID 14504269.  
  • Kajinami K, Brousseau ME, Nartsupha C, et al. (2004). "ATP binding cassette transporter G5 and G8 genotypes and plasma lipoprotein levels before and after treatment with atorvastatin.". J. Lipid Res. 45 (4): 653–6. doi:10.1194/jlr.M300278-JLR200. PMID 14703505.  
  • Hubácek JA, Berge KE, Stefková J, et al. (2005). "Polymorphisms in ABCG5 and ABCG8 transporters and plasma cholesterol levels.". Physiological research / Academia Scientiarum Bohemoslovaca 53 (4): 395–401. PMID 15311998.  
  • Yu L, Gupta S, Xu F, et al. (2005). "Expression of ABCG5 and ABCG8 is required for regulation of biliary cholesterol secretion.". J. Biol. Chem. 280 (10): 8742–7. doi:10.1074/jbc.M411080200. PMID 15611112.  
  • Langheim S, Yu L, von Bergmann K, et al. (2005). "ABCG5 and ABCG8 require MDR2 for secretion of cholesterol into bile.". J. Lipid Res. 46 (8): 1732–8. doi:10.1194/jlr.M500115-JLR200. PMID 15930516.  
  • Miettinen TA, Klett EL, Gylling H, et al. (2006). "Liver transplantation in a patient with sitosterolemia and cirrhosis.". Gastroenterology 130 (2): 542–7. doi:10.1053/j.gastro.2005.10.022. PMID 16472606.  
  • Lally S, Tan CY, Owens D, Tomkin GH (2006). "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 49 (5): 1008–16. doi:10.1007/s00125-006-0177-8. PMID 16518588.  

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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