Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Attenuated cholesterol lowering by statins
HMGCR
KIF6
Low density lipoprotein cholesterol level quantitative trait locus
HMGCR

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 external link
19.

NCBI article

NCBI 3156 external link
20.

Wikipedia article

Wikipedia EN (HMG-CoA_reductase) external link
Update: Aug. 14, 2020
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