HMGCR - 3-hydroxy-3-methylglutaryl-CoA reductase Gene

Also Known as LDLCQ3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3156

About HMGCR

Cytogenetic location: 5q13.3 Genomic coordinates (GRCh38): 5:75,336,529-75,362,116 (from NCBI)

This gene has 18 transcripts (splice variants), 206 orthologues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 31.2), colon (RPKM 23.2) and 25 other tissues.

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, Aug 2008]

HMGCR Products (6)

mRNA Protein Name
NM_001364187.1 NP_001351116.1 3-hydroxy-3-methylglutaryl-Coenzyme A reductase isoform 1
XM_011543359.2 XP_011541661.1 3-hydroxy-3-methylglutaryl-Coenzyme A reductase isoform X3
NM_001130996.2 NP_001124468.1 3-hydroxy-3-methylglutaryl-Coenzyme A reductase isoform 2
XM_011543357.2 XP_011541659.1 3-hydroxy-3-methylglutaryl-Coenzyme A reductase isoform X1
NM_000859.3 NP_000850.1 3-hydroxy-3-methylglutaryl-Coenzyme A reductase isoform 1
XM_011543358.2 XP_011541660.1 3-hydroxy-3-methylglutaryl-Coenzyme A reductase isoform X2
Molecular Function GO Annotation Evidence References Source
enables NADPH binding IDA
IDA: Inferred from direct assay
10698924 GOA
enables coenzyme A binding IDA
IDA: Inferred from direct assay
10698924 GOA
enables hydroxymethylglutaryl-CoA reductase (NADPH) activity IDA
IDA: Inferred from direct assay
2991281 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
23169578 GOA
Biological Process GO Annotation Evidence References Source
involved in cholesterol biosynthetic process IDA
IDA: Inferred from direct assay
23063590 GOA
Cellular Component GO Annotation Evidence References Source
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
17180682 GOA
located in peroxisomal membrane IDA
IDA: Inferred from direct assay
17180682 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HMGCR Protein Structure

Sterol-sensing

Sterol-sensing: Sterol-sensing domain of SREBP cleavage-activation (87 - 224)

HMG-CoA_red

HMG-CoA_red: Hydroxymethylglutaryl-coenzyme A reductase (490 - 871)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 888 a.a.
Protein Preferred Names Protein Names

3-hydroxy-3-methylglutaryl-Coenzyme A reductase

  • 3-hydroxy-3-methylglutaryl CoA reductase (NADPH)

  • HMG-CoA reductase

  • hydroxymethylglutaryl-CoA reductase

HMGCR Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
HMGCR P04035 UBIAD1 Homo sapiens Q9Y5Z9 23169578
Intra
HMGCR P04035 UBIAD1 Homo sapiens Q9Y5Z9 23169578
Intra
HMGCR P04035 UBIAD1 Homo sapiens Q9Y5Z9-1
Y2H
23169578
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant HMGCR Proteins

Cat. No. Product Name Accession Purity
HY-P72228 HMGCR Protein, Human (His) P04035-1 (M588-T887) ≥ 90%, as determined by reducing SDS-PAGE.

HMGCR Antibodies

Cat. No. Product Name Application Reactivity
HY-P81197 HMGCR Antibody (YA3518) WB, IP Human, Mouse, Rat
HY-P81197A HMGCR Antibody (YA3518)(PBS only) WB, IP Human, Mouse, Rat

Related Diseases

Diseases Alias
Cardiovascular System Disease
  • Abnormality Of The Cardiovascular System

  • Disease Of Subdivision Of Hemolymphoid System

  • Disorder Of Cardiovascular System

  • Cardiovascular Diseases

  • Cardiovascular Disease

Breast Cancer
  • Breast Carcinoma

  • Breast Cancer, Familial

  • Malignant Neoplasm Of Breast

  • Male Breast Cancer

  • Breast Cancer, Susceptibility To

  • Breast Cancer, Early-Onset

  • Malignant Tumor Of Breast

  • Carcinoma Of Male Breast

  • Breast Cancer, Invasive Ductal

  • Breast Cancer, Protection Against

  • Breast Cancer, Somatic

  • Breast Cancer, Male

  • Breast Cancer, Lobular, Somatic

  • Breast Tumor

  • Mammary Cancer

  • Mammary Tumor

  • Malignant Neoplasm Of Male Breast

  • Mammary Carcinoma

  • Male Breast Carcinoma

  • Familial Cancer Of Breast

  • Invasive Ductal Breast Carcinoma

  • Breast Cancer Susceptibility

  • Breast Cancer, Male, Susceptibility To

  • Breast Cancer, Early-Onset, Susceptibility To

  • Malignant Tumor Of The Breast

  • Mammary Neoplasm

  • Primary Breast Cancer

  • Neoplasm Of Male Breast

  • Carcinoma Of Breast

  • Breast Cancer In Men

  • Familial Breast Cancer

  • Cancer Of Breast

  • BC

  • Breast Cancer Familial

  • Breast Cancer Familial Male

  • Breast Cancer, Familial Male

  • Breast Male Carcinoma

  • Breast Neoplasms

  • Breast Neoplasms, Male

  • Mammary Tumors

  • Mammary Carcinomas

  • Cancer, Breast

  • Cancer, Breast, Susceptibility

  • Invasive Breast Ductal Carcinoma

  • Breast Neoplasm

  • Susceptibility To Breast Cancer

  • Mammary Neoplasms

  • Animal Mammary Neoplasms

  • Primary Malignant Neoplasm Of Breast

  • Infiltrating Ductal Carcinoma Of Breast

  • Infiltrating Duct Carcinoma Of Unspecified Site

  • Infiltrating Ductular Carcinoma Of Unspecified Site

  • Invasive Breast Carcinoma Of No Special Type

  • Microinvasive Carcinoma Of Breast

  • Carcinoma With Apocrine Differentiation

Body Mass Index Quantitative Trait Locus 11
  • OBESITY

  • Obesity, Susceptibility To

  • Leanness, Inherited

  • Obesity, Susceptibility To, Bmiq11

  • Obesity, Mild, Early-Onset

  • Obesity, Association With

  • Obesity, Early-Onset, Susceptibility To

  • Obesity, Severe

  • Obesity, Severe, And Type Ii Diabetes

  • Obesity, Late-Onset

  • BMIQ11

  • Obesity Bmiq11

  • Obesity, Early-Onset

  • Obesity , Susceptibility To

  • Simple Obesity Nos

  • Excess Fat

  • Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

  • Adiposis

Chronic Kidney Disease
  • Chronic Renal Disease

  • Chronic Kidney Failure

  • Ckd

  • Chronic Renal Failure

  • Kidney Failure, Chronic

  • Chronic Renal Failure Syndrome

  • Crf

  • Renal Failure - Chronic

  • Renal Failure Chronic

  • Chronic Kidney Diseases

  • Chronic Kidney Disease Stage 5

  • Ckd - [Chronic Kidney Disease]

  • Crf - [Chronic Renal Failure]

  • Chronic Kidney Impairment

  • Chronic Renal Impairment

  • Chronic Kidney Shutdown

  • Chronic Hypoxic Kidney Failure

  • Chronic Kidney Collapse

  • Chronic Renal Insufficiency

  • Chronic Kidney Toxaemia

  • Chronic Kidney Hypofunction

  • Chronic Renal Suppression

  • Chronic Renal Failure, Stage 5

  • Ckd - [Chronic Kidney Disease] Stage 5

  • End Stage Kidney Failure

  • End Stage Renal Failure

  • End Stage Kidney Disease

  • End Stage Renal Disease

  • End Stage Chronic Renal Failure

  • Esrf - [End Stage Renal Failure]

  • Esrd - [End Stage Renal Diseases]

  • Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²

Nervous System Disease
  • Abnormality Of The Nervous System

  • Nervous System Diseases

  • Nervous System Disorder

Lipoprotein Quantitative Trait Locus
  • Coronary Artery Disease

  • Coronary Artery Disease, Susceptibility To

  • Coronary Artery Anomaly

  • Myocardial Ischemia

  • Congenital Anomaly Of Coronary Artery

  • Coronary Arteriosclerosis

  • Coronary Disease

  • Coronary Heart Disease

  • Coronary Artery Disorder

  • LPAQTL

  • Lpa Deficiency, Congenital

  • Coronary Artery Abnormality

  • Coronary Artery Anomaly, Congenital

  • Chd

  • Coronary Syndrome

  • Congenital Malformations Of Coronary Vessels

  • Malformation Of Coronary Vessels

  • Congenital Coronary Artery Anomaly

  • Congenital Coronary Artery Deformity

  • Congenital Coronary Artery Disorder

  • Abnormal Coronary Artery

  • Congenital Coronary Artery Malposition

  • Congenital Coronary Disease

  • Congenital Anomaly Of Coronary Arteries

Stroke, Ischemic
  • Cerebral Infarction

  • Stroke

  • Ischemic Stroke

  • Cerebrovascular Accident

  • Cerebral Infarction, Susceptibility To

  • Stroke, Ischemic, Susceptibility To

  • Cerebral Infarct

  • Ischemic Stroke, Susceptibility To

  • Stroke, Susceptibility To

  • Cva - Cerebral Infarction

  • ISCHSTR

  • Ischemic Cerebrovascular Accident

Hyperlipoproteinemia, Type Iii
  • Hyperlipoproteinemia Type Iii

  • Broad-Betalipoproteinemia

  • Floating-Betalipoproteinemia

  • Familial Type 3 Hyperlipoproteinemia

  • Broad Beta Disease

  • Familial Hyperbeta- And Prebetalipoproteinemia

  • Familial Hypercholesterolemia With Hyperlipemia

  • Hyperlipemia With Familial Hypercholesterolemic Xanthomatosis

  • Coronary Artery Disease, Severe, Susceptibility To

  • Coronary Artery Disease, Severe

  • Hyperlipidemia Type 3

  • Familial Dysbetalipoproteinemia

  • Hyperlipoproteinemia Type 3

  • Coronary Artery Disease

  • Apolipoprotein E, Deficiency Or Defect Of

  • Dysbetalipoproteinemia Due To Defect In Apolipoprotein E-D

  • Carbohydrate Induced Hyperlipemia

  • Familial Hypercholesterolaemia With Hyperlipaemia

  • Remnant Hyperlipidemia

  • Remnant Removal Disease

  • Dysbetalipoproteinemia

  • Broad-Beta Disease

  • Familial Dyslipidemia Type 3

  • Hlp Type 3

  • Remnant Hyperlipoproteinemia

  • Familial Hyperlipoproteinemia Type Iii

  • CAD

  • Hyperlipoproteinemia 3

  • HLPP3

  • Deficiency Or Defect Of Apolipoprotein E

  • Dysbetalipoproteinemia Due To Defect In Apolipoprotein E

  • Coronary Arteriosclerosis

  • Coronary Heart Disease

Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
  • Metabolic Encephalomyopathic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration

  • MECRCN

  • Rhabdomyolysis

Hyperlipidemia, Familial Combined, 3
  • Familial Combined Hyperlipidemia

  • Combined Hyperlipidemia, Familial

  • Mixed Hyperlipidaemia

  • FCHL3

  • Hyperlipidemia, Familial Combined

  • Familial Multiple Lipoprotein-Type Hyperlipidemia

  • Hyperbetalipoproteinemia With Prebetalipoproteinemia

  • Type Iib Hyperlipoproteinemia

  • Hyperlipidemia Familial Combined

  • Hyperlipoproteinemia Type Iib

  • Mixed Hyperlipemia

  • Hyperlipidaemia, Group C

  • Familial Hypercholesterolaemia With Hyperlipaemia

  • Familial Hyperbetalipoproteinaemia And Hyperprebetalipoproteinaemia

  • Hyperbetalipoproteinaemia With Prebetalipoproteinaemia

  • Hypercholesterolaemia With Endogenous Hyperglyceridaemia

  • Prebetalipoproteinemia Hyperbetalipoproteinaemia

  • Remnant Hyperlipoproteinemia

Multiple Sclerosis
  • MS

  • Multiple Sclerosis, Susceptibility To

  • Disseminated Sclerosis

  • Multiple Sclerosis, Disease Progression, Modifier Of

  • Insular Sclerosis

  • Multiple Sclerosis Modifier Of Disease Progression

  • Multiple Sclerosis, Susceptibility To 1

  • Multiple Sclerosis, Susceptibility To, 1

  • Multiple Sclerosis 1

  • Generalized Multiple Sclerosis

  • Multiple Sclerosis Variant

  • Multiple Sclerosis Susceptibility To

  • Cerebrospinal Sclerosis

  • Generalised Multiple Sclerosis

  • Ms - [Multiple Sclerosis]

  • Disseminated Cerebrospinal Sclerosis

  • Disseminated Multiple Sclerosis

  • Disseminated Nervous System Myelosclerosis

  • Multiple Cerebrospinal Sclerosis

  • Multiple Combined Sclerosis

  • Multiple Sclerosis Generalised

  • Disseminated Brain Sclerosis

  • Disseminated Spinal Sclerosis

  • Insular Brain Sclerosis

  • Miliary Brain Sclerosis

  • Multiple Combined Sclerosis Of Spinal Cord

  • Multiple Ascending Sclerosis

  • Multiple Brain Sclerosis

  • Multiple Sclerosis Of Brain Stem

  • Multiple Sclerosis Of The Brain Stem

  • Multiple Sclerosis Of Cord

  • Sclérose En Plaques

  • Plaque Sclerosis

  • Multiple Sclerosis Of The Spinal Cord

Isolated Elevated Serum Creatine Phosphokinase Levels
  • Elevated Serum Cpk

  • Idiopathic Hyperckemia

  • Isolated Hyperckemia

  • Elevated Serum Creatine Phosphokinase

  • H-Ck

  • Idiopathic Persistent Elevation Of Serum Creatine Kinase

Antisynthetase Syndrome
  • As Syndrome

  • Anti-Jo1 Syndrome

Orbital Plasma Cell Granuloma
  • Orbital Myositis

  • Orbital Pseudotumor

  • Pseudotumor Of Orbit

  • Plasma Cell Granuloma, Orbital

Type 2 Diabetes Mellitus
  • Insulin Resistance

  • NIDDM

  • Diabetes Mellitus, Non-Insulin-Dependent

  • Type 2 Diabetes

  • T2D

  • Noninsulin-Dependent Diabetes Mellitus

  • Diabetes Mellitus, Type Ii

  • Maturity-Onset Diabetes

  • Insulin Resistance, Severe, Digenic

  • Diabetes Mellitus, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent

  • Diabetes Mellitus, Noninsulin-Dependent, Association With

  • Diabetes Mellitus, Noninsulin-Dependent, Late Onset

  • Hypertension, Insulin Resistance-Related, Susceptibility To

  • Insulin Resistance, Susceptibility To

  • Non-Insulin-Dependent Diabetes Mellitus

  • Type Ii Diabetes Mellitus

  • Adult-Onset Diabetes Mellitus

  • Maturity-Onset Diabetes Mellitus

  • Diabetes Mellitus Type 2

  • Type Ii Diabetes

  • Type 2 Diabetes Mellitus, Susceptibility To

  • Diabetes, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Type 2, Susceptibility To

  • Diabetes Mellitus, Noninsulin-Dependent, 2

  • Diabetes Mellitus, Type Ii, Susceptibility To

  • Hypertension, Insulin Resistance-Related

  • Adult-Onset Diabetes

  • Aodm

  • Diabetes Mellitus, Adult-Onset

  • Diabetes Mellitus Type Ii

  • Diabetes Mellitus Type 2, Susceptibility To

  • Diabetes, Type Ii, Susceptibility To

  • Diabetes Type 2

  • Diabetes Mellitus

  • Adult Onset Diabetes

  • Maturity Onset Diabetes

  • Nonketotic Diabetes

  • Non-Insulin Dependent Diabetes Mellitus

  • T2dm - [Type 2 Diabetes Mellitus]

  • Niddm - [Non Insulin Dependent Diabetes Mellitus]

  • Dm2

  • Dm Type Ii

  • Diabetic Type 2

  • Insulin Requiring Type 2 Diabetes

  • Noninsulin Dependent Diabetes

  • Non-Insulin-Dependent Diabetes Mellitus Without Complications

  • Diabetes Due To Insulin Secretory Defect

  • Diabetes Mellitus Due To Insulin Secretory Defect

  • Non-Insulin-Dependent Diabetes Of The Young

  • Senile Diabetes

  • Nonketotic Hyperglycaemia

  • Stable Diabetes

Alzheimer Disease, Familial, 1
  • Alzheimer Disease

  • Alzheimer'S Disease

  • Presenile And Senile Dementia

  • AD1

  • Alzheimer Disease, Susceptibility To

  • Alzheimer Disease, Late-Onset, Susceptibility To

  • Alzheimer Disease 1, Familial

  • AD

  • Familial Alzheimer Disease

  • Alzheimer Disease, Late-Onset

  • Alzheimers Dementia

  • Alzheimer Dementia

  • Alzheimer Sclerosis

  • Alzheimer Syndrome

  • Alzheimer-Type Dementia

  • Dat

  • Primary Senile Degenerative Dementia

  • Sdat

  • Alzheimer Disease 1

  • Autosomal Dominant Alzheimer Disease

  • Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

  • Late Onset Alzheimer Disease

  • Alzheimers Disease

  • Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

  • Late-Onset Alzheimers Disease

  • Alzheimer'S Disease Pathway Kegg

  • Dementia Due To Alzheimer'S Disease

  • Alzheimer Disease Type 1

  • Alzheimers

Creatine Phosphokinase, Elevated Serum
  • Hyperckemia, Idiopathic

  • Cpk, Elevated Serum

  • Hyperckmia

  • HYPCK

Mevalonic Aciduria
  • Mevalonate Kinase Deficiency

  • Mevalonicaciduria

  • Hyperimmunoglobulin D With Periodic Fever

  • MEVA

  • Complete Mevalonate Kinase Deficiency

  • Mva

  • Hyperimmunoglobulinemia D

  • Hyper Igd Syndrome

  • Periodic Fever, Dutch Type

  • Mkd

  • Aciduria, Mevalonic

  • Deficiency Of Mevalonate Kinase

Smith-Lemli-Opitz Syndrome
  • SLOS

  • Rsh Syndrome

  • 7-Dehydrocholesterol Reductase Deficiency

  • Slo Syndrome

  • Rutledge Lethal Multiple Congenital Anomaly Syndrome

  • Lethal Acrodysgenital Syndrome

  • Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung

  • Smith-Opitz-Inborn Syndrome

  • Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobular Lung

  • Smith Lemli Opitz Syndrome

  • Smith-Lemli-Opitz Syndrome, Type Ii

Non-Alcoholic Fatty Liver Disease
  • Fatty Liver

  • Non-Alcoholic Fatty Liver

  • Nafld

  • Nonalcoholic Fatty Liver Disease

  • Nonalcoholic Steatohepatitis

  • Steatosis

  • Nafl

  • Nash

  • Non-Alcoholic Steatohepatitis

  • Susceptibility To Nonalcoholic Fatty Liver Disease

  • Steatohepatitis

  • Fatty Degeneration

  • Non-Alcoholic Fatty Liver Disease Without Mention Of Non-Alcoholic Steatohepatitis

  • Nafld Without Nash

  • Nafld Without Mention Of Nash

Familial Hyperlipidemia
  • Familial Hyperlipoproteinemia

  • Hyperlipidaemia

  • Hyperlipoproteinemias

  • Hyperlipemia

  • Hyperlipidemias

  • Hyperlipidemia

Cerebrotendinous Xanthomatosis
  • CTX

  • Cerebral Cholesterinosis

  • Cholestanol Storage Disease

  • Xanthomatosis, Cerebrotendinous

  • Sterol 27-Hydroxylase Deficiency

  • Xanthomatosis Cerebrotendinous

  • Cerebrotendinous Cholesterinosis

  • Cholestanolosis

  • Van Bogaert-Scherer-Epstein Disease

Bacteremia 2
  • Bacteremia, Susceptibility To, 2

  • Bacteremia

  • BACTS2

  • Bacteremia, Susceptibility To

  • Bacteremia, Susceptibility To, Type 2

Cholelithiasis
Vascular Disease
  • Vascular Diseases

  • Aneurysm

  • Spinal Cord Ischemia

  • Spinal Cord Vascular Diseases

  • Vascular Tissue Disease

  • Vascular Anomaly

Peripheral Vascular Disease
  • Peripheral Arterial Disease

  • Arterial Occlusive Disease

  • Arterial Occlusive Diseases

  • Pad

  • Peripheral Vascular Diseases

  • Peripheral Occlusive Disease

  • Peripheral Arterial Diseases

  • Helicobacter Infections

Cataract
  • Cataracts

  • Cat - [Cataract]

  • Cataract Form

  • Lens Opacity

  • Lens Opacities

Familial Hypercholesterolemia
  • Hyperlipoproteinemia Type Iia

  • Familial Hyperbetalipoproteinaemia

  • Familial Hypercholesteremia

  • Fredrickson Type Iia Hyperlipoproteinemia

  • Fredrickson Type Iia Lipidaemia

  • Hyperbetalipoproteinemia

  • Type Ii Hyperlipidemia

  • Familial Hypercholesterolæmia

  • Familial Hypercholesterolaemia

  • Fh

  • Hypercholesterolemia Familial

  • Hyperlipoproteinemia Type Ii

  • Hypercholesterolemia, Familial

Autism Spectrum Disorder
  • Asd

  • Autism Spectrum Disorders

  • Autistic Continuum

  • Pervasive Developmental Disorder

  • Pervasive Development Disorder

  • Autistic Behavior

  • Autistic Disorder

  • Autistic

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Childhood Autism

  • Kanner Syndrome

  • Pervasive Developmental Delay Nos

  • Pervasive Developmental Disorder, Not Otherwise Specified

Sitosterolemia
  • Phytosterolemia

  • Beta-Sitosterolemia

  • Plant Sterol Storage Disease

  • Phytosterolæmia

  • Sitosterolæmia

  • Retention Of Dietary Cholesterol And Abnormal Retention Of Non-Cholesterol Sterols In The Body

  • Phytosterolaemia

  • Sitosterolaemia

  • Sitosterolemia With Xanthomatosis

Skin Disease
  • Skin Diseases

  • Abnormality Of The Skin

  • Skin Diseases, Genetic

  • Genodermatosis

  • Skin And Subcutaneous Tissue Disease

  • Dermatologic Disorders

Acute Myocardial Infarction
  • Cardiac Attack

  • Heart Attack

Nephrotic Syndrome
  • Finnish Congenital Nephrotic Syndrome

  • Ns - [Nephrotic Syndrome]

  • Nephrosis Syndrome

  • Nephrosis Nos

  • Glomerular Lesion Nephrosis

Gas Gangrene
  • Myonecrosis

  • Gas Bacillus Infection

  • Gas Gangrene Due To Clostridia

  • Clostridial Myonecrosis

  • Clostridial Cellulitis

Hyperlipoproteinemia, Type V
  • Hyperlipoproteinemia Type V

  • Hyperchylomicronemia, Late-Onset

  • Familial Type 5 Hyperlipoproteinemia

  • Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial

  • Hyperlipidemia, Type V

  • Hyperlipemia, Mixed

  • Hyperlipemia, Combined Fat And Carbohydrate-Induced

  • Familial Hyperlipoproteinemia Type V

  • Fredrickson Type V Lipaemia

  • Hyperlipoproteinemia Type 5

  • Hyperchylomicronemia Late Onset

  • Hyperlipemia Combined Fat And Carbohydrate-Induced

  • Hyperlipemia Mixed

  • Hyperlipidemia Type V

  • Mixed Hyperlipemia

  • Type V Hyperlipoproteinemia

  • Hyperlipoproteinemia 5

  • HLPP5

  • Hyperlipidemia, Familial Combined

  • Mixed Hyperlipidemia

Heart Disease
  • Heart Failure

  • Congenital Heart Disease

  • Heart Diseases

  • Congenital Heart Defects

  • Congenital Heart Defect

  • Congenital Anomaly Of Heart

  • Heart Defect

  • Heart Malformation

  • Heart-Congenital Defect

  • Congenital Heart Disorder

  • Heart Defects Congenital

  • Heart Defects, Congenital

  • Heart Defects

  • Heart Disease, Congenital

  • Disease, Heart, Congenital

  • Congestive Heart Failure

Osteoporosis
  • Postmenopausal Osteoporosis

  • Osteoporosis, Postmenopausal

  • Bone Mineral Density Quantitative Trait Locus

  • Bmnd

  • Osteoporosis, Involutional

  • Osteoporosis, Susceptibility To

  • Osteoporosis, Postmenopausal, Susceptibility

  • Bone Mineral Density Variation Qtl, Osteoporosis

  • OSTEOP

  • Involutional Osteoporosis

  • Senile Osteoporosis

  • Osteoporosis Postmenopausal

  • Bone Mineral Density, Quantitative Trait Locus

  • Osteoporosis, Senile

  • Idiopathic Osteoporosis

  • Bone Rarefaction Nos

  • Type 1 Osteoporosis

Muscle Tissue Disease
Kidney Disease
  • Renal Failure

  • Kidney Failure

  • Kidney Diseases

  • Nephropathy

  • Abnormality Of The Kidney

  • Impaired Renal Function Disease

  • Renal Anomaly

  • Kidney Dysfunction

  • Renal Disease

  • Nephropathies

  • Renal Failure Adverse Event

  • Abnormal Renal Function

Myopathy
  • Muscular Diseases

  • Myopathies

Lipid Metabolism Disorder
  • Dyslipidemia

  • Disorder Of Fatty Acid Metabolism

  • Lipid Metabolism Disorders

  • Fatty Acid Metabolism Disorder

  • Disorder Of Lipid Metabolism

  • Abnormality Of Lipid Metabolism

  • Lipid Metabolism, Inborn Errors

  • Dyslipidemias

  • Disorders Of Lipid Metabolism

  • Congenital Disorders Of Lipid Metabolism

  • Inherited Disorders Of Lipid Metabolism

Cerebrovascular Disease
  • Cerebrovascular Accident

  • Cerebrovascular Disorder

  • Cerebrovascular Disorders

  • Cva

  • Stroke

Myocardial Infarction
  • Heart Attack

  • Myocardial Infarction, Susceptibility To

  • Myocardial Infarction 1

  • Myocardial Infarction, Protection Against

  • Myocardial Infarction, Decreased Susceptibility To

  • Myocardial Infarction, Decreased

  • Myocardial Infarct

  • MCI1

  • Premature Myocardial Infarction

  • Myocardial Infarction, Susceptibility To, Type 1

Hypertension, Essential
  • Essential Hypertension

  • Hypertension

  • High Blood Pressure

  • Hypertension, Essential, Susceptibility To

  • Hypertensive Disease

  • Primary Hypertension

  • EHT

  • Hypertension, Salt-Sensitive Essential, Susceptibility To

  • Hyperpiesia

  • Idiopathic Hypertension

  • Hypertensive Disorder

  • Hypertension, Essential, Susceptibility To, 3

  • Hypertension, Essential 3

  • Hypertension, Essential, Salt-Sensitive

  • Hypertension, Essential, Susceptibility To, 6

  • Hypertension, Essential 6

  • Hypertension, Salt-Sensitive Essential

  • Hypertension, Susceptibility To

  • Hypertension, Essential, Susceptibility To, 4

  • Hypertension, Essential 4

  • Hypertension, Essential, Susceptibility To, 2

  • Hypertension, Essential 2

  • Hypertension, Essential, Susceptibility To, 1

  • Hypertension, Essential 1

  • Hypertension, Essential, Susceptibility To, 5

  • Hypertension, Essential 5

  • Htn

  • Vascular Hypertensive Disorder

  • Systemic Primary Arterial Hypertension

  • Hbp - [High Blood Pressure]

  • Systemic Arterial Hypertensive Disorder

  • Elevated Blood Pressure

  • Arterial Hypertension Nos

  • Hypertension Nos

  • Benign Hypertension

  • Systemic Arterial Hypertension

  • Systemic Hypertension

  • Artery Htn

  • Benign Htn

  • Vascular Htn

  • Vascular Hypertension

  • Cholesterol Hypertension

  • Cholesterol Htn

  • Idiopathic Htn

  • Malignant Hypertension

  • Malignant Htn

  • Raised Blood Pressure

  • Cardiovascular Hypertension

  • Primary Htn - [Hypertension]

  • High Arterial Tension

  • High Blood Pressure Disorder

  • Ht - [Hypertension]

  • Htn - [Hypertension]

  • Hypertensive Vascular Disease

  • Hypertensive Vascular Degeneration

Childhood Type Dermatomyositis
  • Juvenile Dermatomyositis

  • Juvenile Dm

  • Childhood Dermatomyositis

  • Amyopathic Dermatomyositis

  • Adm

  • Dermatomyositis Sine Myositis

  • Dermatomyositis, Childhood Type

Schnyder Corneal Dystrophy
  • Schnyder Crystalline Corneal Dystrophy

  • SCCD

  • Corneal Dystrophy, Crystalline, Of Schnyder

  • Corneal Dystrophy, Schnyder Type

  • Corneal Dystrophy Crystalline Of Schnyder

  • Crystalline Stromal Dystrophy

  • Hereditary Crystalline Stromal Dystrophy Of Schnyder

  • Scd

  • Corneal Dystrophy, Schnyder

  • Schnyder Crystalline Dystrophy Sine Crystals

  • Dystrophy, Corneal, Crystalline, Schnyder

Diabetes Mellitus
  • Diabetes

Hypercholesterolemia, Familial, 1
  • Hypercholesterolemia

  • FHCL1

  • Fhc

  • Fh

  • Hyperlipoproteinemia, Type Ii

  • Hyperlipoproteinemia, Type Iia

  • Hyper-Low-Density-Lipoproteinemia

  • Hypercholesterolemic Xanthomatosis, Familial

  • Ldl Receptor Disorder

  • Hypercholesterolemia, Susceptibility To

  • Hypercholesterolemia, Familial, Modifier Of

  • Hypercholesterolemia, Familial, Due To Ldlr Defect, Modifier Of

  • Ldl Cholesterol Level Qtl2

  • Hyperlipoproteinemia Type Ii

  • Hypercholesterolemia, Familial, Type 1

  • High Cholesterol

  • Increased Cholesterol

  • Low-Density-Lipoid-Type Hyperlipoproteinemia

  • Pure Hypercholesterolaemia

  • Ldl - [Low Density Lipoprotein} Hyperlipoproteinemia

  • Group A Hyperlipidaemia

  • Pure Hypercholesterinaemia

  • Cholesterolaemia

  • Essential Cholesterolaemia

  • Essential Hypercholesterolaemia

  • Group A Hyperlipemia

  • Increased Low Density Lipoprotein

  • Low-Density-Lipoprotein-Type

  • Low-Density-Lipoprotein-Type Hyperlipoproteinemia

Hepatoblastoma
Xanthomatosis
  • Xanthomatosis, Susceptibility To

  • Xanthelasmatosis

Arteriosclerosis
  • Arteriosclerotic Vascular Disease

Hemochromatosis, Type 1
  • Hemochromatosis

  • Hemochromatosis Type 1

  • Hereditary Hemochromatosis

  • Hh

  • HFE1

  • Hfe Hemochromatosis, Modifier Of

  • Symptomatic Form Of Classic Hemochromatosis

  • Symptomatic Form Of Hemochromatosis Type 1

  • Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis

  • Haemochromatosis

  • Iron Storage Disorder

  • Bronze Diabetes

  • Hlah

  • Hfe

  • Hemochromatosis, Hereditary

  • Diabetes Bronze

  • Classic Hemochromatosis

  • Hfe-Associated Hereditary Hemochromatosis

  • Hemochromatosis Classic

  • Bronzed Cirrhosis

  • Familial Hemochromatosis

  • Genetic Hemochromatosis

  • Hc

  • Hereditary Haemochromatosis

  • Pigmentary Cirrhosis

  • Primary Hemochromatosis

  • Troisier-Hanot-Chauffard Syndrome

  • Von Recklenhausen-Applebaum Disease

  • Hemochromatosis 1

  • Primary Hereditary Hemochromatosis

  • Bronze Cirrhosis

Coronary Heart Disease 1
  • Coronary Heart Disease

  • Coronary Heart Disease, Susceptibility To, 1

  • Chds1

  • Coronary Heart Disease, Susceptibility To

  • CHD

  • Heart, Coronary, Disease, Susceptibility To, Type 1

  • Coronary Arteriosclerosis

  • Coronary Artery Disease

Atherosclerosis Susceptibility
  • Atherosclerosis

  • Atherosclerosis, Susceptibility To

  • ATHS

  • Atherogenic Lipoprotein Phenotype

  • Alp

  • Arteriosclerosis

Adult Dermatomyositis
  • Adult Onset Dermatomyositis

  • Adult Type Dermatomyositis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus HMGCR VGNC VGNC:29879
Macaca mulatta HMGCR VGNC VGNC:73484
Rattus norvegicus HMGCR RGD RGD:2803
Felis catus HMGCR VGNC VGNC:67596
Mus musculus HMGCR MGD MGI:96159
Canis familiaris HMGCR VGNC VGNC:41714
Others HMGCR NCBI