3-hydroxy-3-methylglutaryl-Coenzyme A reductase
The HMGCR gene encodes HMG-CoA reductase, a key enzyme in cholestrol synthesis. Therapeutic inhibition of this enzyme plays an important role in cholesterol lowering. A few single nucleotide variants have been described to influence enzyme production and function, which also have an impact on the efficiency of cholesterol lowering dugs.
Genetests:
Research |
Method |
Carrier testing |
Turnaround |
5 days |
Specimen type |
genomic DNA |
Related Diseases:
References:
1. |
Kathiresan S et al. (2008) Polymorphisms associated with cholesterol and risk of cardiovascular events.
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2. |
Yu CY et al. (2014) HNRNPA1 regulates HMGCR alternative splicing and modulates cellular cholesterol metabolism.
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3. |
None (2004) Genetic polymorphisms and statin therapy.
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4. |
Chasman DI et al. (2004) Pharmacogenetic study of statin therapy and cholesterol reduction.
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5. |
Wang CY et al. (2003) Lovastatin, a 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitor, induces apoptosis and differentiation in human anaplastic thyroid carcinoma cells.
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6. |
Sever N et al. (2003) Accelerated degradation of HMG CoA reductase mediated by binding of insig-1 to its sterol-sensing domain.
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7. |
Istvan ES et al. (2001) Structural mechanism for statin inhibition of HMG-CoA reductase.
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8. |
Van Doren M et al. (1998) HMG-CoA reductase guides migrating primordial germ cells.
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9. |
Reynolds GA et al. (1984) HMG CoA reductase: a negatively regulated gene with unusual promoter and 5' untranslated regions.
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10. |
Osborne TF et al. (1985) 5' end of HMG CoA reductase gene contains sequences responsible for cholesterol-mediated inhibition of transcription.
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11. |
Mohandas T et al. (1986) Assignment of human 3-hydroxy-3-methylglutaryl coenzyme A reductase gene to q13----q23 region of chromosome 5.
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12. |
None (1987) Conservation of promoter sequence but not complex intron splicing pattern in human and hamster genes for 3-hydroxy-3-methylglutaryl coenzyme A reductase.
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13. |
Humphries SE et al. (1985) The isolation, characterisation, and chromosomal assignment of the gene for human 3-hydroxy-3-methylglutaryl coenzyme A reductase, (HMG-CoA reductase).
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14. |
Goldstein JL et al. (1990) Regulation of the mevalonate pathway.
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15. |
Aulchenko YS et al. (2009) Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
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16. |
Lindgren V et al. (1985) Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes.
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17. |
Teslovich TM et al. (2010) Biological, clinical and population relevance of 95 loci for blood lipids.
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18. |
OMIM.ORG article
Omim 142910
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19. |
NCBI article
NCBI 3156
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20. |
Wikipedia article
Wikipedia EN (HMG-CoA_reductase)
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Update: Aug. 14, 2020