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.


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
Low density lipoprotein cholesterol level quantitative trait locus



Kathiresan S et al. (2008) Polymorphisms associated with cholesterol and risk of cardiovascular events.

external link

Yu CY et al. (2014) HNRNPA1 regulates HMGCR alternative splicing and modulates cellular cholesterol metabolism.

external link

None (2004) Genetic polymorphisms and statin therapy.

external link

Chasman DI et al. (2004) Pharmacogenetic study of statin therapy and cholesterol reduction.

external link

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.

external link

Sever N et al. (2003) Accelerated degradation of HMG CoA reductase mediated by binding of insig-1 to its sterol-sensing domain.

external link

Istvan ES et al. (2001) Structural mechanism for statin inhibition of HMG-CoA reductase.

external link

Van Doren M et al. (1998) HMG-CoA reductase guides migrating primordial germ cells.

external link

Reynolds GA et al. (1984) HMG CoA reductase: a negatively regulated gene with unusual promoter and 5' untranslated regions.

external link

Osborne TF et al. (1985) 5' end of HMG CoA reductase gene contains sequences responsible for cholesterol-mediated inhibition of transcription.

external link

Mohandas T et al. (1986) Assignment of human 3-hydroxy-3-methylglutaryl coenzyme A reductase gene to q13----q23 region of chromosome 5.

external link

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.

external link

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).

external link

Goldstein JL et al. (1990) Regulation of the mevalonate pathway.

external link

Aulchenko YS et al. (2009) Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

external link

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.

external link

Teslovich TM et al. (2010) Biological, clinical and population relevance of 95 loci for blood lipids.

external link

OMIM.ORG article

Omim 142910 external link

NCBI article

NCBI 3156 external link

Wikipedia article

Wikipedia EN (HMG-CoA_reductase) external link
Update: Aug. 14, 2020
Copyright © 2005-2022 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits