HMGCR

Gene Information
 
Gene Symbol
HMGCR
 
Aliases
LDLCQ3
 
Entrez Gene ID
 
Gene Name
3-hydroxy-3-methylglutaryl-CoA reductase
 
Chromosomal Location
5q13.3-q14
 
HGNC ID
 
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)
 
GeneCards ID
 
UniGene
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0008354 Biological process Germ cell migration TAS 9853754
GO:0008406 Biological process Gonad development TAS 9853754
GO:0005789 Cellular component Endoplasmic reticulum membrane EXP 10698924
Protein Information
 
Protein Name
3-hydroxy-3-methylglutaryl-Coenzyme A reductase , hydroxymethylglutaryl-CoA reductase , OTTHUMP00000128250 , 3-hydroxy-3-methylglutaryl-CoA reductase, LDLCQ3 , HMG-CoA reductase , OTTHUMP00000222062 , OTTHUMP00000222063 , 3-hydroxy-3-methylglutaryl CoA reductase (NADPH) , EC 1.1.1.34
 
Function
This transmembrane glycoprotein is involved in the control of cholesterol biosynthesis. It is the rate-limiting enzyme of sterol biosynthesis
 
Refseq Proteins
 
UniProt
 
PDB
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00368 HMG-CoA_red Hydroxymethylglutaryl-coenzyme A reductase
PF12349 Sterol-sensing Sterol-sensing domain of SREBP cleavage-activation
 
KEGG
 
OMIM
 
Interactions
STRING MINT I2D
ENSP00000287936 P04035

Associated Diseases

Diseases References
Arthropathy 15194586
Autoimmunity 16920939
Cardiovascular diseases 15962651, 10912119, 11228171, 15922259
Diabetes mellitus 16291700, 15015196, 1535040, 14727930
Eosinophilia 7751504
   
References
 
Primary:

Variants in the HMG-CoA reductase (HMGCR) gene influence component phenotypes in polycystic ovary syndrome.

Xu Ning, Taylor Kent D, Azziz Ricardo, Goodarzi Mark O
Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, California 90048, USA.
Fertil Steril. 2010 Jun;94(1):255-60.e1-2. Epub 2009 Mar 26.

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
25887459, PMC4414284
Polycystic ovarian syndrome is accompanied by repression of gene signatures associated with biosynthesis and metabolism of steroids, cholesterol and lipids. 
Animal study 

 

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