Aliases for HMGCR Gene
External Ids for HMGCR Gene
Previous GeneCards Identifiers for HMGCR Gene
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]
GeneCards Summary for HMGCR Gene
HMGCR (3-Hydroxy-3-Methylglutaryl-CoA Reductase) is a Protein Coding gene. Diseases associated with HMGCR include Familial Hyperlipidemia and Cerebrotendinous Xanthomatosis. Among its related pathways are Terpenoid backbone biosynthesis and Regulation of cholesterol biosynthesis by SREBP (SREBF). Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and NADP binding.
UniProtKB/Swiss-Prot Summary for HMGCR Gene
Catalyzes the conversion of (3S)-hydroxy-3-methylglutaryl-CoA (HMG-CoA) to mevalonic acid, the rate-limiting step in the synthesis of cholesterol and other isoprenoids, thus plays a critical role in cellular cholesterol homeostasis (PubMed:2991281, PubMed:21357570, PubMed:6995544). HMGCR is the main target of statins, a class of cholesterol-lowering drugs (PubMed:11349148, PubMed:18540668).
3-hydroxy-3-methyl-glutaryl-CoA reductase (HMG-CoA reductase) catalyzes the rate limiting step in cholesterol biosynthesis - conversion of 3-hydroxy-3-methyl-glutaryl-CoA to mevalonic acid. HMG-CoA reductase is a transmembrane enzyme, bound to endoplasmic reticulum.