Biology:ABCG5
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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 5 is a protein that in humans is encoded by the ABCG5 gene.[1][2][3]
Function
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.[3]
Interactive pathway map
See also
- ABCG5 and ABCG8 Genes
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.
- ↑ "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". American Journal of Human Genetics 69 (2): 278–90. Aug 2001. doi:10.1086/321294. PMID 11452359.
- ↑ 3.0 3.1 "Entrez Gene: ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64240.
Further reading
- "Role of ABCG1 and other ABCG family members in lipid metabolism". Journal of Lipid Research 42 (10): 1513–20. Oct 2001. doi:10.1016/S0022-2275(20)32205-7. PMID 11590207.
- "Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21". The Journal of Clinical Investigation 102 (5): 1041–4. Sep 1998. doi:10.1172/JCI3963. PMID 9727073.
- "Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption". Nature Genetics 27 (1): 79–83. Jan 2001. doi:10.1038/83799. PMID 11138003.
- "An ATP-binding cassette gene (ABCG5) from the ABCG (White) gene subfamily maps to human chromosome 2p21 in the region of the Sitosterolemia locus". Cytogenetics and Cell Genetics 92 (3–4): 204–8. 2001. doi:10.1159/000056903. PMID 11435688. https://zenodo.org/record/1235317.
- "Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia". Human Mutation 18 (4): 359–60. Oct 2001. doi:10.1002/humu.1206. PMID 11668628.
- "Novel donor splice site mutation of ABCG5 gene in sitosterolemia". Molecular Genetics and Metabolism 75 (2): 178–80. Feb 2002. doi:10.1006/mgme.2001.3285. PMID 11855938.
- "Molecular cloning, genomic organization, genetic variations, and characterization of murine sterolin genes Abcg5 and Abcg8". Journal of Lipid Research 43 (4): 565–78. Apr 2002. doi:10.1016/S0022-2275(20)31486-3. PMID 11907139.
- "Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia". Human Mutation 20 (2): 151. Aug 2002. doi:10.1002/humu.9047. PMID 12124998.
- "Comparative genome analysis of potential regulatory elements in the ABCG5-ABCG8 gene cluster". Biochemical and Biophysical Research Communications 295 (2): 276–82. Jul 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". The Journal of Clinical Investigation 110 (5): 659–69. Sep 2002. doi:10.1172/JCI16000. PMID 12208867.
- "Overexpression of ABCG5 and ABCG8 promotes biliary cholesterol secretion and reduces fractional absorption of dietary cholesterol". The Journal of Clinical Investigation 110 (5): 671–80. Sep 2002. doi:10.1172/JCI16001. PMID 12208868.
- "ABCG5 and ABCG8 are obligate heterodimers for protein trafficking and biliary cholesterol excretion". The Journal of Biological Chemistry 278 (48): 48275–82. Nov 2003. 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". Journal of Lipid Research 45 (4): 653–6. Apr 2004. doi:10.1194/jlr.M300278-JLR200. PMID 14703505.
- "The orphan nuclear receptor LRH-1 activates the ABCG5/ABCG8 intergenic promoter". Journal of Lipid Research 45 (7): 1197–206. Jul 2004. doi:10.1194/jlr.C400002-JLR200. PMID 15121760.
- "Expression of ABCG5 and ABCG8 is required for regulation of biliary cholesterol secretion". The Journal of Biological Chemistry 280 (10): 8742–7. Mar 2005. doi:10.1074/jbc.M411080200. PMID 15611112.
External links
- ABCG5+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
- Human ABCG5 genome location and ABCG5 gene details page in the UCSC Genome Browser.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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