ATP-binding cassette sub-family G member 8
ABCG8 gene is localized in a head-to-head position with the ABCG5 gene. Both use the same promotor and encode proteins with similar function, which is excretion of plant-derived cholesterol-like molecules, such as sitosterol into the bile duct and bowel. Mutations cause autosomal recessive sitosterolemia and mediterranean macrothrombocytopenia.
Genetests:
Research |
Method |
Carrier testing |
Turnaround |
5 days |
Specimen type |
genomic DNA |
Related Diseases:
References:
1. |
Mannucci L et al. (2007) Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene.
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2. |
Repa JJ et al. (2002) Regulation of ATP-binding cassette sterol transporters ABCG5 and ABCG8 by the liver X receptors alpha and beta.
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3. |
Lu K et al. (2002) Molecular cloning, genomic organization, genetic variations, and characterization of murine sterolin genes Abcg5 and Abcg8.
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4. |
Matsuura T et al. (2002) Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency.
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5. |
Yu L et al. (2002) Disruption of Abcg5 and Abcg8 in mice reveals their crucial role in biliary cholesterol secretion.
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6. |
Sehayek E et al. (2002) Loci on chromosomes 14 and 2, distinct from ABCG5/ABCG8, regulate plasma plant sterol levels in a C57BL/6J x CASA/Rk intercross.
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7. |
None (2003) Role of ABC transporters in secretion of cholesterol from liver into bile.
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8. |
Yang C et al. (2004) Disruption of cholesterol homeostasis by plant sterols.
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9. |
Rees DC et al. (2005) Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia.
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10. |
Moses SW et al. (1991) Fructose-1,6-diphosphatase deficiency in Israel.
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11. |
Rios J et al. (2010) Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia.
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12. |
Li B et al. (2014) Fructose-1,6-bisphosphatase opposes renal carcinoma progression.
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13. |
Chong JX et al. (2012) A population-based study of autosomal-recessive disease-causing mutations in a founder population.
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14. |
Beaty TH et al. (1986) Genetic analysis of plasma sitosterol, apoprotein B, and lipoproteins in a large Amish pedigree with sitosterolemia.
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15. |
Bhattacharyya AK et al. (1974) Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters.
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16. |
Kwiterovich PO et al. (1981) Hyperapobetalipoproteinaemia in two families with xanthomas and phytosterolaemia.
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17. |
Solcà C et al. (2005) Sitosterolaemia in Switzerland: molecular genetics links the US Amish-Mennonites to their European roots.
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18. |
Buch S et al. (2007) A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.
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19. |
Lee MH et al. (2001) Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption.
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20. |
Odievre M et al. (1975) [Fructose 1,6-diphosphatase deficiency in 2 sisters].
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21. |
Bührdel P et al. (1990) Biochemical and clinical observations in four patients with fructose-1,6-diphosphatase deficiency.
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22. |
Baker L et al. (1970) Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity.
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23. |
Sia CL et al. (1969) Studies on the subunit structure of rabbit liver fructose diphosphatase.
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24. |
Melancon SB et al. (1972) Detection of fructose-6,-diphosphatase deficiency with use of white blood cells.
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25. |
Baerlocher K et al. (1971) Infantile lactic acidosis due to hereditary fructose 1,6-diphosphatase deficiency.
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26. |
Pagliara AS et al. (1972) Hepatic fructose-1,6-diphosphatase deficiency. A cause of lactic acidosis and hypoglycemia in infancy.
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27. |
Greene HL et al. (1972) "Ketotic hypoglycemia" due to hepatic fructose-1,6-diphosphatase deficiency: treatment with folic acid.
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28. |
el-Maghrabi MR et al. (1995) Human fructose-1,6-bisphosphatase gene (FBP1): exon-intron organization, localization to chromosome bands 9q22.2-q22.3, and mutation screening in subjects with fructose-1,6-bisphosphatase deficiency.
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29. |
Kikawa Y et al. (1995) Identification of a genetic mutation in a family with fructose-1,6- bisphosphatase deficiency.
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30. |
Besley GT et al. (1994) Fructose-1,6-bisphosphatase deficiency: severe phenotype with normal leukocyte enzyme activity.
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31. |
Rothschild CB et al. (1995) Fructose-1,6-bisphosphatase: genetic and physical mapping to human chromosome 9q22.3 and evaluation in non-insulin-dependent diabetes mellitus.
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32. |
Kikawa Y et al. (1997) Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.
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33. |
Tillmann H et al. (1998) Isolation and characterization of an allelic cDNA for human muscle fructose-1,6-bisphosphatase.
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34. |
Berge KE et al. (2000) Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters.
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35. |
Lu K 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.
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36. |
Orphanet article
Orphanet ID 117685
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37. |
NCBI article
NCBI 64241
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38. |
OMIM.ORG article
Omim 605460
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39. |
Wikipedia article
Wikipedia EN (ABCG8)
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Update: Aug. 14, 2020