HMGCR Back

3-hydroxy-3-methylglutaryl-Coenzyme A reductase

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of HMGCR
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.

Community Annotation of HMGCR Add / Edit HMGCR: Annotations

No community annotations yet for HMGCR.
Sort mutations by: Tumor type  Mutation type  Position  
Straightedge cursor Expand

Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

HMGCR is highly significantly mutated in
(none)
HMGCR is significantly mutated in
(none)
HMGCR is near significance in
(none)

Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for HMGCR