Biology:ABCG8
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Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
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]
Interactive pathway map
See also
References
- ↑ "Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters". Science 290 (5497): 1771–5. Dec 2000. doi:10.1126/science.290.5497.1771. PMID 11099417. Bibcode: 2000Sci...290.1771B.
- ↑ "Increased gallstone risk in humans conferred by common variant of hepatic ATP-binding cassette transporter for cholesterol". Hepatology 46 (3): 793–801. Sep 2007. doi:10.1002/hep.21847. PMID 17626266.
- ↑ 3.0 3.1 "Entrez Gene: ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64241.
Further reading
- "Role of ABCG1 and other ABCG family members in lipid metabolism.". J. Lipid Res. 42 (10): 1513–20. 2002. doi:10.1016/S0022-2275(20)32205-7. PMID 11590207.
- "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. 2001. doi:10.1086/321294. PMID 11452359.
- "Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia". Hum. Mutat. 18 (4): 359–60. 2002. doi:10.1002/humu.1206. PMID 11668628.
- "Heritability of plasma noncholesterol sterols and relationship to DNA sequence polymorphism in ABCG5 and ABCG8". J. Lipid Res. 43 (3): 486–94. 2002. doi:10.1016/S0022-2275(20)30155-3. PMID 11893785.
- "Molecular cloning, genomic organization, genetic variations, and characterization of murine sterolin genes Abcg5 and Abcg8". J. Lipid Res. 43 (4): 565–78. 2002. doi:10.1016/S0022-2275(20)31486-3. PMID 11907139.
- "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. 2002. doi:10.1007/s100380200041. PMID 12111378.
- "Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia". Hum. Mutat. 20 (2): 151. 2002. doi:10.1002/humu.9047. PMID 12124998.
- "Comparative genome analysis of potential regulatory elements in the ABCG5-ABCG8 gene cluster". Biochem. Biophys. Res. Commun. 295 (2): 276–82. 2002. doi:10.1016/S0006-291X(02)00652-6. PMID 12150943.
- "Coexpression of ATP-binding cassette proteins ABCG5 and ABCG8 permits their transport to the apical surface". J. Clin. Invest. 110 (5): 659–69. 2002. doi:10.1172/JCI16000. PMID 12208867.
- "Overexpression of ABCG5 and ABCG8 promotes biliary cholesterol secretion and reduces fractional absorption of dietary cholesterol". J. Clin. Invest. 110 (5): 671–80. 2002. doi:10.1172/JCI16001. PMID 12208868.
- "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. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "ABCG5 and ABCG8 are obligate heterodimers for protein trafficking and biliary cholesterol excretion". J. Biol. Chem. 278 (48): 48275–82. 2004. doi:10.1074/jbc.M310223200. PMID 14504269.
- "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. 2004. doi:10.1194/jlr.M300278-JLR200. PMID 14703505.
- "Polymorphisms in ABCG5 and ABCG8 transporters and plasma cholesterol levels". Physiological Research 53 (4): 395–401. 2005. PMID 15311998.
- "Expression of ABCG5 and ABCG8 is required for regulation of biliary cholesterol secretion". J. Biol. Chem. 280 (10): 8742–7. 2005. doi:10.1074/jbc.M411080200. PMID 15611112.
- "ABCG5 and ABCG8 require MDR2 for secretion of cholesterol into bile". J. Lipid Res. 46 (8): 1732–8. 2005. doi:10.1194/jlr.M500115-JLR200. PMID 15930516.
- "Liver Transplantation in a Patient With Sitosterolemia and Cirrhosis". Gastroenterology 130 (2): 542–7. 2006. doi:10.1053/j.gastro.2005.10.022. PMID 16472606.
- "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. 2006. doi:10.1007/s00125-006-0177-8. PMID 16518588.
External links
- ABCG8+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
- Human ABCG8 genome location and ABCG8 gene details page in the UCSC Genome Browser.
- Overview of all the structural information available in the PDB for UniProt: Q9H221 (ATP-binding cassette sub-family G member 8) at the PDBe-KB.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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