ABCG5
| ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1) | |||||||||||
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| Symbols | ABCG5 ; STSL | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 31909 | ||||||||||
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| Species | Human | Mouse | |||||||||
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ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1), also known as ABCG5, is a human gene.[1]
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.[1]
See also
References
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.
- Patel SB, Salen G, Hidaka H; et al. (1998). "Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21". J. Clin. Invest. 102 (5): 1041–4. PMID 9727073.
- Berge KE, Tian H, Graf GA; et al. (2000). "Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters". Science. 290 (5497): 1771–5. PMID 11099417.
- Lee MH, Lu K, Hazard S; et al. (2001). "Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption". Nat. Genet. 27 (1): 79–83. doi:10.1038/83799. PMID 11138003.
- Shulenin S, Schriml LM, Remaley AT; et al. (2001). "An ATP-binding cassette gene (ABCG5) from the ABCG (White) gene subfamily maps to human chromosome 2p21 in the region of the Sitosterolemia locus". Cytogenet. Cell Genet. 92 (3–4): 204–8. PMID 11435688.
- 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. 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.
- Lam CW, Cheng AW, Tong SF, Chan YW (2002). "Novel donor splice site mutation of ABCG5 gene in sitosterolemia". Mol. Genet. Metab. 75 (2): 178–80. doi:10.1006/mgme.2001.3285. PMID 11855938.
- 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.
- 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. 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.
- Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- 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.
- Freeman LA, Kennedy A, Wu J; et al. (2005). "The orphan nuclear receptor LRH-1 activates the ABCG5/ABCG8 intergenic promoter". J. Lipid Res. 45 (7): 1197–206. doi:10.1194/jlr.C400002-JLR200. PMID 15121760.
- 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.
External links
- ABCG5+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
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