Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
ABCG5 gene is localized in a head-to-head position with the ABCG8 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.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
Chylomicronemia
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ABCA1
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ABCG5
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APOA5
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APOC2
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APOE
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Chylomicron retention disease
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SAR1B
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GPIHBP1
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LCAT
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LIPA
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LIPC
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LMF1
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LPL
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SAR1B
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| 1. |
Berge KE et al. (2000) Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. 
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| 2. |
Lee MH et al. (2001) Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption.
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| 3. |
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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| 4. |
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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| 5. |
Lu K et al. (2002) Molecular cloning, genomic organization, genetic variations, and characterization of murine sterolin genes Abcg5 and Abcg8.
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| 6. |
Yu L et al. (2002) Disruption of Abcg5 and Abcg8 in mice reveals their crucial role in biliary cholesterol secretion.
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| 7. |
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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| 8. |
None (2003) Role of ABC transporters in secretion of cholesterol from liver into bile.
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| 9. |
Yang C et al. (2004) Disruption of cholesterol homeostasis by plant sterols.
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| 10. |
Rees DC et al. (2005) Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia.
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| 11. |
Mannucci L et al. (2007) Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene.
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| 12. |
Rios J et al. (2010) Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia.
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| 13. |
NCBI article NCBI 64240
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| 14. |
OMIM.ORG article Omim 605459
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| 15. |
Orphanet article Orphanet ID 117683
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| 16. |
Wikipedia article Wikipedia EN (ABCG5)
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