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Gene: HMGCR (3-hydroxy-3-methylglutaryl-CoA reductase) Homo sapiens
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Symbol: HMGCR
Name: 3-hydroxy-3-methylglutaryl-CoA reductase
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 3-hydroxy-3-methylglutaryl CoA reductase (NADPH); 3-hydroxy-3-methylglutaryl-Coenzyme A reductase; HMG-CoA reductase; hydroxymethylglutaryl-CoA reductase; LDLCQ3
Orthologs:
Mus musculus (house mouse) : Hmgcr (3-hydroxy-3-methylglutaryl-Coenzyme A reductase)  MGI  Alliance
Rattus norvegicus (Norway rat) : Hmgcr (3-hydroxy-3-methylglutaryl-CoA reductase)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Hmgcr (3-hydroxy-3-methylglutaryl-CoA reductase)
Pan paniscus (bonobo/pygmy chimpanzee) : HMGCR (3-hydroxy-3-methylglutaryl-CoA reductase)
Canis lupus familiaris (dog) : HMGCR (3-hydroxy-3-methylglutaryl-CoA reductase)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Hmgcr (3-hydroxy-3-methylglutaryl-CoA reductase)
Sus scrofa (pig) : HMGCR (3-hydroxy-3-methylglutaryl-CoA reductase)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38575,336,334 - 75,362,101 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37574,632,159 - 74,657,926 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36574,668,855 - 74,693,681 (+)NCBINCBI36hg18NCBI36
Build 34574,668,854 - 74,693,681NCBI
Celera570,526,169 - 70,551,102 (+)NCBI
Cytogenetic Map5q13.3NCBI
HuRef569,838,165 - 69,863,098 (+)NCBIHuRef
CHM1_1574,065,715 - 74,090,648 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on HMGCR
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 731579
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.