HMGCR Chromosome 5
3-hydroxy-3-methylglutaryl-CoA reductase
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What This Gene Does
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 (9)
Statins
attenuated cholesterol lowering by
Low density lipoprotein cholesterol level quantitative trait locus 3
Inborn genetic diseases
Muscular dystrophy
limb-girdle
autosomal recessive 28
Basal cell nevus syndrome 1
Limb-girdle muscular dystrophy
Key Variants
RS12916
drug response
Statins, attenuated cholesterol lowering by, Statins
Drug Response
RS2303151
drug response
Statins, attenuated cholesterol lowering by, Statins
Drug Response
RS12654264
association
Low density lipoprotein cholesterol level quantitative trait locus 3, Low density lipoprotein cholesterol level quantitative trait locus 3
Health Risk
RS1417859624
Conflicting classifications of pathogenicity
Inborn genetic diseases, Muscular dystrophy, limb-girdle
Health Risk
RS1760537442
Conflicting classifications of pathogenicity
Muscular dystrophy, limb-girdle, autosomal recessive 28
Health Risk
RS1760562691
Likely pathogenic
Muscular dystrophy, limb-girdle, autosomal recessive 28
Health Risk
RS982576013
Likely pathogenic
Muscular dystrophy, limb-girdle, autosomal recessive 28
Health Risk
RS2478743697
Pathogenic
Muscular dystrophy, limb-girdle, autosomal recessive 28
Health Risk
RS2478802501
Pathogenic
Muscular dystrophy, limb-girdle, autosomal recessive 28
Health Risk
RS2478804975
Pathogenic
Muscular dystrophy, limb-girdle, autosomal recessive 28
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS12916 | Drug Response | drug response | Statins, attenuated cholesterol lowering by, Statins |
| RS2303151 | Drug Response | drug response | Statins, attenuated cholesterol lowering by, Statins |
| RS12654264 | Health Risk | association | Low density lipoprotein cholesterol level quantitative trait locus 3, Low density lipoprotein cholesterol level quantitative trait locus 3 |
| RS1417859624 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Muscular dystrophy, limb-girdle |
| RS1760537442 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy, limb-girdle, autosomal recessive 28 |
| RS1760562691 | Health Risk | Likely pathogenic | Muscular dystrophy, limb-girdle, autosomal recessive 28 |
| RS982576013 | Health Risk | Likely pathogenic | Muscular dystrophy, limb-girdle, autosomal recessive 28 |
| RS2478743697 | Health Risk | Pathogenic | Muscular dystrophy, limb-girdle, autosomal recessive 28 |
| RS2478802501 | Health Risk | Pathogenic | Muscular dystrophy, limb-girdle, autosomal recessive 28 |
| RS2478804975 | Health Risk | Pathogenic | Muscular dystrophy, limb-girdle, autosomal recessive 28 |