ABCG8

ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2), also known as ABCG8, is a human gene.cite web | title = Entrez Gene: ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64241| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64241| accessdate = ]

ee also

* ATP-binding cassette transporter

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Schmitz G, Langmann T, Heimerl S |title=Role of ABCG1 and other ABCG family members in lipid metabolism. |journal=J. Lipid Res. |volume=42 |issue= 10 |pages= 1513–20 |year= 2002 |pmid= 11590207 |doi=
*cite journal | author=Berge KE, Tian H, Graf GA, "et al." |title=Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. |journal=Science |volume=290 |issue= 5497 |pages= 1771–5 |year= 2000 |pmid= 11099417 |doi=
*cite journal | author=Lu K, Lee MH, Hazard S, "et al." |title=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. |journal=Am. J. Hum. Genet. |volume=69 |issue= 2 |pages= 278–90 |year= 2001 |pmid= 11452359 |doi=
*cite journal | author=Hubacek JA, Berge KE, Cohen JC, Hobbs HH |title=Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia. |journal=Hum. Mutat. |volume=18 |issue= 4 |pages= 359–60 |year= 2002 |pmid= 11668628 |doi= 10.1002/humu.1206
*cite journal | author=Berge KE, von Bergmann K, Lutjohann D, "et al." |title=Heritability of plasma noncholesterol sterols and relationship to DNA sequence polymorphism in ABCG5 and ABCG8. |journal=J. Lipid Res. |volume=43 |issue= 3 |pages= 486–94 |year= 2002 |pmid= 11893785 |doi=
*cite journal | author=Lu K, Lee MH, Yu H, "et al." |title=Molecular cloning, genomic organization, genetic variations, and characterization of murine sterolin genes Abcg5 and Abcg8. |journal=J. Lipid Res. |volume=43 |issue= 4 |pages= 565–78 |year= 2002 |pmid= 11907139 |doi=
*cite journal | author=Iida A, Saito S, Sekine A, "et al." |title=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. |journal=J. Hum. Genet. |volume=47 |issue= 6 |pages= 285–310 |year= 2002 |pmid= 12111378 |doi= 10.1007/s100380200041
*cite journal | author=Heimerl S, Langmann T, Moehle C, "et al." |title=Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia. |journal=Hum. Mutat. |volume=20 |issue= 2 |pages= 151 |year= 2002 |pmid= 12124998 |doi= 10.1002/humu.9047
*cite journal | author=Remaley AT, Bark S, Walts AD, "et al." |title=Comparative genome analysis of potential regulatory elements in the ABCG5-ABCG8 gene cluster. |journal=Biochem. Biophys. Res. Commun. |volume=295 |issue= 2 |pages= 276–82 |year= 2002 |pmid= 12150943 |doi=
*cite journal | author=Graf GA, Li WP, Gerard RD, "et al." |title=Coexpression of ATP-binding cassette proteins ABCG5 and ABCG8 permits their transport to the apical surface. |journal=J. Clin. Invest. |volume=110 |issue= 5 |pages= 659–69 |year= 2002 |pmid= 12208867 |doi=
*cite journal | author=Yu L, Li-Hawkins J, Hammer RE, "et al." |title=Overexpression of ABCG5 and ABCG8 promotes biliary cholesterol secretion and reduces fractional absorption of dietary cholesterol. |journal=J. Clin. Invest. |volume=110 |issue= 5 |pages= 671–80 |year= 2002 |pmid= 12208868 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Graf GA, Yu L, Li WP, "et al." |title=ABCG5 and ABCG8 are obligate heterodimers for protein trafficking and biliary cholesterol excretion. |journal=J. Biol. Chem. |volume=278 |issue= 48 |pages= 48275–82 |year= 2004 |pmid= 14504269 |doi= 10.1074/jbc.M310223200
*cite journal | author=Kajinami K, Brousseau ME, Nartsupha C, "et al." |title=ATP binding cassette transporter G5 and G8 genotypes and plasma lipoprotein levels before and after treatment with atorvastatin. |journal=J. Lipid Res. |volume=45 |issue= 4 |pages= 653–6 |year= 2004 |pmid= 14703505 |doi= 10.1194/jlr.M300278-JLR200
*cite journal | author=Hubácek JA, Berge KE, Stefková J, "et al." |title=Polymorphisms in ABCG5 and ABCG8 transporters and plasma cholesterol levels. |journal=Physiological research / Academia Scientiarum Bohemoslovaca |volume=53 |issue= 4 |pages= 395–401 |year= 2005 |pmid= 15311998 |doi=
*cite journal | author=Yu L, Gupta S, Xu F, "et al." |title=Expression of ABCG5 and ABCG8 is required for regulation of biliary cholesterol secretion. |journal=J. Biol. Chem. |volume=280 |issue= 10 |pages= 8742–7 |year= 2005 |pmid= 15611112 |doi= 10.1074/jbc.M411080200
*cite journal | author=Langheim S, Yu L, von Bergmann K, "et al." |title=ABCG5 and ABCG8 require MDR2 for secretion of cholesterol into bile. |journal=J. Lipid Res. |volume=46 |issue= 8 |pages= 1732–8 |year= 2005 |pmid= 15930516 |doi= 10.1194/jlr.M500115-JLR200
*cite journal | author=Miettinen TA, Klett EL, Gylling H, "et al." |title=Liver transplantation in a patient with sitosterolemia and cirrhosis. |journal=Gastroenterology |volume=130 |issue= 2 |pages= 542–7 |year= 2006 |pmid= 16472606 |doi= 10.1053/j.gastro.2005.10.022
*cite journal | author=Lally S, Tan CY, Owens D, Tomkin GH |title=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. |journal=Diabetologia |volume=49 |issue= 5 |pages= 1008–16 |year= 2006 |pmid= 16518588 |doi= 10.1007/s00125-006-0177-8

External links

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