HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase
Gene ID: 3156, updated on 3-Apr-2024Gene type: protein coding
Also known as: MYPLG; LDLCQ3; LGMDR28
- See all available tests in GTR for this gene
- Go to complete Gene record for HMGCR
- Go to Variation Viewer for HMGCR variants
Summary
HMG-CoA reductase is the rate-limiting enzyme for cholesterol synthesis and is regulated via a negative feedback mechanism mediated by sterols and non-sterol metabolites derived from mevalonate, the product of the reaction catalyzed by reductase. Normally in mammalian cells this enzyme is suppressed by cholesterol derived from the internalization and degradation of low density lipoprotein (LDL) via the LDL receptor. Competitive inhibitors of the reductase induce the expression of LDL receptors in the liver, which in turn increases the catabolism of plasma LDL and lowers the plasma concentration of cholesterol, an important determinant of atherosclerosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome wide association study identifies common variants associated with lipid levels in the Chinese population. GeneReviews: Not available | |
| Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. GeneReviews: Not available | |
| Biological, clinical and population relevance of 95 loci for blood lipids. GeneReviews: Not available | |
| Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13. GeneReviews: Not available | |
| Common variants at 30 loci contribute to polygenic dyslipidemia. GeneReviews: Not available | |
| Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
| Genetic variants influencing circulating lipid levels and risk of coronary artery disease. GeneReviews: Not available | |
| Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. GeneReviews: Not available | |
| Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. GeneReviews: Not available | |
| Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. GeneReviews: Not available | |
| Low density lipoprotein cholesterol level quantitative trait locus 3 | not available |
| Muscular dystrophy, limb-girdle, autosomal recessive 28 | not available |
| Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. GeneReviews: Not available |
Genomic context
- Location:
- 5q13.3
- Sequence:
- Chromosome: 5; NC_000005.10 (75336529..75362116)
- Total number of exons:
- 23
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for HMGCR variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- HMGCR database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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