ABCG5


ABCG5

ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1), also known as ABCG5, is a human gene.cite web | title = Entrez Gene: ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64240| 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 ABCG8. Mutations in this gene may contribute to sterol accumulation and atheroschlerosis, and have been observed in patients with sitosterolemia.cite web | title = Entrez Gene: ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64240| 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=Patel SB, Salen G, Hidaka H, "et al." |title=Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21. |journal=J. Clin. Invest. |volume=102 |issue= 5 |pages= 1041–4 |year= 1998 |pmid= 9727073 |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=Lee MH, Lu K, Hazard S, "et al." |title=Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. |journal=Nat. Genet. |volume=27 |issue= 1 |pages= 79–83 |year= 2001 |pmid= 11138003 |doi= 10.1038/83799
*cite journal | author=Shulenin S, Schriml LM, Remaley AT, "et al." |title=An ATP-binding cassette gene (ABCG5) from the ABCG (White) gene subfamily maps to human chromosome 2p21 in the region of the Sitosterolemia locus. |journal=Cytogenet. Cell Genet. |volume=92 |issue= 3-4 |pages= 204–8 |year= 2001 |pmid= 11435688 |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=Lam CW, Cheng AW, Tong SF, Chan YW |title=Novel donor splice site mutation of ABCG5 gene in sitosterolemia. |journal=Mol. Genet. Metab. |volume=75 |issue= 2 |pages= 178–80 |year= 2002 |pmid= 11855938 |doi= 10.1006/mgme.2001.3285
*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=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=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*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=Freeman LA, Kennedy A, Wu J, "et al." |title=The orphan nuclear receptor LRH-1 activates the ABCG5/ABCG8 intergenic promoter. |journal=J. Lipid Res. |volume=45 |issue= 7 |pages= 1197–206 |year= 2005 |pmid= 15121760 |doi= 10.1194/jlr.C400002-JLR200
*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

External links

*

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