ABCG5

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 atherosclerosis, and have been observed in patients with sitosterolemia.

{{StatinPathway_WP430|highlight=ABCG5}}

• ABCG5 and ABCG8 Genes

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• {{cite journal | vauthors = Schmitz G, Langmann T, Heimerl S | title = Role of ABCG1 and other ABCG family members in lipid metabolism | journal = Journal of Lipid Research | volume = 42 | issue = 10 | pages = 1513–20 | date = Oct 2001 | doi = 10.1016/S0022-2275(20)32205-7 | pmid = 11590207 | doi-access = free }}
• {{cite journal | vauthors = Patel SB, Salen G, Hidaka H, Kwiterovich PO, Stalenhoef AF, Miettinen TA, Grundy SM, Lee MH, Rubenstein JS, Polymeropoulos MH, Brownstein MJ | title = Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21 | journal = The Journal of Clinical Investigation | volume = 102 | issue = 5 | pages = 1041–4 | date = Sep 1998 | pmid = 9727073 | pmc = 508970 | doi = 10.1172/JCI3963 }}
• {{cite journal | vauthors = Lee MH, Lu K, Hazard S, Yu H, Shulenin S, Hidaka H, Kojima H, Allikmets R, Sakuma N, Pegoraro R, Srivastava AK, Salen G, Dean M, Patel SB | title = Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption | journal = Nature Genetics | volume = 27 | issue = 1 | pages = 79–83 | date = Jan 2001 | pmid = 11138003 | pmc = 1350991 | doi = 10.1038/83799 }}
• {{cite journal | vauthors = Shulenin S, Schriml LM, Remaley AT, Fojo S, Brewer B, Allikmets R, Dean M | 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 = Cytogenetics and Cell Genetics | volume = 92 | issue = 3–4 | pages = 204–8 | year = 2001 | pmid = 11435688 | doi = 10.1159/000056903 | s2cid = 23238025 | url = https://zenodo.org/record/1235317 }}
• {{cite journal | vauthors = Hubacek JA, Berge KE, Cohen JC, Hobbs HH | title = Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia | journal = Human Mutation | volume = 18 | issue = 4 | pages = 359–60 | date = Oct 2001 | pmid = 11668628 | doi = 10.1002/humu.1206 | s2cid = 10011192 | doi-access = free }}
• {{cite journal | vauthors = Lam CW, Cheng AW, Tong SF, Chan YW | title = Novel donor splice site mutation of ABCG5 gene in sitosterolemia | journal = Molecular Genetics and Metabolism | volume = 75 | issue = 2 | pages = 178–80 | date = Feb 2002 | pmid = 11855938 | doi = 10.1006/mgme.2001.3285 }}
• {{cite journal | vauthors = Lu K, Lee MH, Yu H, Zhou Y, Sandell SA, Salen G, Patel SB | title = Molecular cloning, genomic organization, genetic variations, and characterization of murine sterolin genes Abcg5 and Abcg8 | journal = Journal of Lipid Research | volume = 43 | issue = 4 | pages = 565–78 | date = Apr 2002 | doi = 10.1016/S0022-2275(20)31486-3 | pmid = 11907139 | pmc = 1815568 }}
• {{cite journal | vauthors = Heimerl S, Langmann T, Moehle C, Mauerer R, Dean M, Beil FU, von Bergmann K, Schmitz G | title = Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia | journal = Human Mutation | volume = 20 | issue = 2 | pages = 151 | date = Aug 2002 | pmid = 12124998 | doi = 10.1002/humu.9047 | s2cid = 23157539 | doi-access = }}
• {{cite journal | vauthors = Remaley AT, Bark S, Walts AD, Freeman L, Shulenin S, Annilo T, Elgin E, Rhodes HE, Joyce C, Dean M, Santamarina-Fojo S, Brewer HB | title = Comparative genome analysis of potential regulatory elements in the ABCG5-ABCG8 gene cluster | journal = Biochemical and Biophysical Research Communications | volume = 295 | issue = 2 | pages = 276–82 | date = Jul 2002 | pmid = 12150943 | doi = 10.1016/S0006-291X(02)00652-6 }}
• {{cite journal | vauthors = Graf GA, Li WP, Gerard RD, Gelissen I, White A, Cohen JC, Hobbs HH | title = Coexpression of ATP-binding cassette proteins ABCG5 and ABCG8 permits their transport to the apical surface | journal = The Journal of Clinical Investigation | volume = 110 | issue = 5 | pages = 659–69 | date = Sep 2002 | pmid = 12208867 | pmc = 151110 | doi = 10.1172/JCI16000 }}
• {{cite journal | vauthors = Yu L, Li-Hawkins J, Hammer RE, Berge KE, Horton JD, Cohen JC, Hobbs HH | title = Overexpression of ABCG5 and ABCG8 promotes biliary cholesterol secretion and reduces fractional absorption of dietary cholesterol | journal = The Journal of Clinical Investigation | volume = 110 | issue = 5 | pages = 671–80 | date = Sep 2002 | pmid = 12208868 | pmc = 151111 | doi = 10.1172/JCI16001 }}
• {{cite journal | vauthors = Graf GA, Yu L, Li WP, Gerard R, Tuma PL, Cohen JC, Hobbs HH | title = ABCG5 and ABCG8 are obligate heterodimers for protein trafficking and biliary cholesterol excretion | journal = The Journal of Biological Chemistry | volume = 278 | issue = 48 | pages = 48275–82 | date = Nov 2003 | pmid = 14504269 | doi = 10.1074/jbc.M310223200 | doi-access = free }}
• {{cite journal | vauthors = Kajinami K, Brousseau ME, Nartsupha C, Ordovas JM, Schaefer EJ | title = ATP binding cassette transporter G5 and G8 genotypes and plasma lipoprotein levels before and after treatment with atorvastatin | journal = Journal of Lipid Research | volume = 45 | issue = 4 | pages = 653–6 | date = Apr 2004 | pmid = 14703505 | doi = 10.1194/jlr.M300278-JLR200 | doi-access = free }}
• {{cite journal | vauthors = Freeman LA, Kennedy A, Wu J, Bark S, Remaley AT, Santamarina-Fojo S, Brewer HB | title = The orphan nuclear receptor LRH-1 activates the ABCG5/ABCG8 intergenic promoter | journal = Journal of Lipid Research | volume = 45 | issue = 7 | pages = 1197–206 | date = Jul 2004 | pmid = 15121760 | doi = 10.1194/jlr.C400002-JLR200 | doi-access = free }}
• {{cite journal | vauthors = Yu L, Gupta S, Xu F, Liverman AD, Moschetta A, Mangelsdorf DJ, Repa JJ, Hobbs HH, Cohen JC | title = Expression of ABCG5 and ABCG8 is required for regulation of biliary cholesterol secretion | journal = The Journal of Biological Chemistry | volume = 280 | issue = 10 | pages = 8742–7 | date = Mar 2005 | pmid = 15611112 | doi = 10.1074/jbc.M411080200 | doi-access = free }}

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• {{MeshName|ABCG5+protein,+human}}
• {{UCSC gene info|ABCG5}}

{{membrane-protein-stub}}

{{NLM content}}

{{ABC transporters}}

{{Lipoproteins}}

Category:ATP-binding cassette transporters

{{DEFAULTSORT:Abcfm}}