1. Gene
  2. LDLR - low density lipoprotein receptor Gene

LDLR - low density lipoprotein receptor Gene

Homo sapiens

Also known as FH; FHC; FHCL1; LDLCQ2

Gene ID: 3949 | Gene type: protein coding

About LDLR

Cytogenetic location: 19p13.2 Genomic coordinates (GRCh38): 19:11,089,463-11,133,820 (from NCBI)

This gene has 14 transcripts (splice variants), 129 orthologues, 14 paralogues and is associated with 4 phenotypes. Ubiquitous expression in adrenal (RPKM 29.0), lung (RPKM 28.5) and 25 other tissues.

Summary

The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. The encoded protein is normally bound at the cell membrane, where it binds low density lipoprotein/Cholesterol and is taken into the cell. Lysosomes release the Cholesterol, which is made available for repression of microsomal Enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in Cholesterol synthesis. At the same time, a reciprocal stimulation of Cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2022]

LDLR Products(6)

mRNA Protein Name
NM_000527.5 NP_000518.1 low-density lipoprotein receptor isoform 1 precursor
NM_001195798.2 NP_001182727.1 low-density lipoprotein receptor isoform 2 precursor
NM_001195799.2 NP_001182728.1 low-density lipoprotein receptor isoform 3 precursor
NM_001195800.2 NP_001182729.1 low-density lipoprotein receptor isoform 4 precursor
NM_001195803.2 NP_001182732.1 low-density lipoprotein receptor isoform 6 precursor
NM_001406861.1 NP_001393790.1 low-density lipoprotein receptor isoform 7

LDLR Protein Structure

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (26 - 63)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (67 - 104)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (107 - 143)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (147 - 184)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (196 - 231)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (235 - 270)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (276 - 313)

FXa_inhibition

FXa_inhibition: Coagulation Factor Xa inhibitory site (318 - 348)

EGF_CA

EGF_CA: Calcium-binding EGF domain (354 - 392)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (439 - 483)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (487 - 526)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (529 - 569)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (573 - 614)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (616 - 656)

FXa_inhibition

FXa_inhibition: Coagulation Factor Xa inhibitory site (673 - 711)

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  • 860 a.a.
Protein Preferred Names Protein Names

low-density lipoprotein receptor

LDL receptor

Recombinant LDLR Proteins

Cat. No. Product Name Accession Purity
HY-P70235 LDLR Protein, Human (HEK293, His) P01130 (A22-R788) ≥95%
HY-P72392 LDLR Protein, Human (Biotinylated, HEK293, Avi-His) P01130 (A22-R788) ≥95%
HY-P700860 LDLR Protein, Human (HEK293, Avi-His) P01130-1 (A22-R788) ≥95%

Related Diseases

Diseases Alias
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

Homozygous Familial Hypercholesterolemia

Hofh

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

Carotid Artery Occlusion

Occlusion And Stenosis Of Carotid Artery

Carotid Artery Dissection

Dissection Of Carotid Artery

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

Coronary Heart Disease 5

Coronary Heart Disease, Susceptibility To, 5

CHDS5

Coronary Artery Disease, Early-Onset

Coronary Artery Disease Early-Onset

Early-Onset Coronary Artery Disease

Heart, Coronary, Disease, Susceptibility To, Type 5

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

Aortic Dissection
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

Stomatitis
Familial Hyperlipidemia

Familial Hyperlipoproteinemia

Hyperlipidaemia

Hyperlipoproteinemias

Hyperlipidemia

Hyperlipemia

Hyperlipidemias

Hypercholesterolemia, Familial, 2

Hypercholesterolemia, Autosomal Dominant, Type B

FHCL2

Apolipoprotein B-100, Familial Defective

Apolipoprotein B-100, Familial Ligand-Defective

Hypercholesterolemia, Familial, Due To Ligand-Defective Apolipoprotein B

Autosomal Dominant Type B Hypercholesterolemia

Familial Ligand-Defective Apolipoprotein B-100

Fdb

Hypercholesterolemia, Familial, Type 2

Hyperlipoproteinemia Type Iib

Hypercholesterolemia, Familial, 4

Hypercholesterolemia, Autosomal Recessive

Arh

FHCL4

Autosomal Recessive Hypercholesterolemia

Arh1

Arh2

Autosomal Recessive Hypercholesterolemia 1

Autosomal Recessive Hypercholesterolemia 2

Fhcb1

Fhcb2

Hypercholesterolemia, Autosomal Recessive, 1, Formerly

Arh1, Formerly

Fhcb1, Formerly

Hypercholesterolemia, Autosomal Recessive, 2, Formerly

Arh2, Formerly

Fhcb2, Formerly

Familial Autosomal Recessive Hypercholesterolemia

Hypercholesterolemia, Familial, Autosomal Recessive

Hypercholesterolemia, Familial, Type 4

Arcus Corneae

Arcus Senilis

Corneal Arcus

Arcus Of Cornea

Hyperalphalipoproteinemia 1

Hyperalphalipoproteinemia

HALP1

Cetp Deficiency

Cholesterol-Ester Transfer Protein Deficiency

Familial Hyperalphalipoproteinemia

Cholesteryl Ester Transfer Protein Deficiency

Cept Deficiency

Cholesterol Ester Transfer Protein Deficiency

Osteoporosis-Pseudoglioma Syndrome

OPPG

Ops

Osteoporosis With Pseudoglioma

Osteogenesis Imperfecta, Ocular Form

Ocular Form Of Osteogenesis Imperfecta

Osteogenesis Imperfecta Ocular Form

Osteoporosis Pseudoglioma Syndrome

Pseudoglioma With Bone Fragility

Hepatitis C Virus

Hepatitis C Virus, Susceptibility To

Hepatitis C Virus Infection, Response To Therapy Of

Hcv

Hcv, Susceptibility To

Hepatitis C Virus, Resistance To

Hepatitis C Virus, Response To Therapy Of

Resistance To Hepatitis C Virus

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

Xanthomatosis

Xanthomatosis, Susceptibility To

Xanthelasmatosis

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

Heart Disease

Heart Failure

Congenital Heart Disease

Heart Diseases

Congenital Heart Defects

Congenital Heart Defect

Heart Malformation

Congenital Anomaly Of Heart

Heart Defect

Heart-Congenital Defect

Congenital Heart Disorder

Heart Defects Congenital

Heart Defects, Congenital

Heart Defects

Heart Disease, Congenital

Disease, Heart, Congenital

Congestive Heart Failure

Hypobetalipoproteinemia, Familial, 1

Hypobetalipoproteinemia

Familial Hypobetalipoproteinemia 1

Familial Hypobetalipoproteinemia

FHBL1

Hypobetalipoproteinemia, Familial

Fhbl

Acanthocytosis With Hypobetalipoproteinemia

Hypobetalipoproteinemias

Hypobetalipoproteinemia, Normotriglyceridemic

Hypo-Beta-Lipoproteinemia

Hypobetalipoprotéinemia, Familial

Normotriglyceridemic Hypobetalipoproteinemia

Hypobetalipoproteinemia, Familial, Type 1

Hypoalphalipoproteinemia
Lipoprotein Quantitative Trait Locus

Coronary Artery Disease

Coronary Artery Anomaly

Coronary Artery Disease, Susceptibility To

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

Atherosclerosis Susceptibility

Atherosclerosis

Atherosclerosis, Susceptibility To

ATHS

Atherogenic Lipoprotein Phenotype

Alp

Arteriosclerosis

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

Hepatoblastoma
Hypothyroidism

Thyroid Diseases

Thyroid Disease

Thyroid Deficiency

Thyroid Insufficiency

Dysfunction Thyroid

Thyroid Dysfunction

Vascular Disease

Vascular Diseases

Aneurysm

Spinal Cord Ischemia

Vascular Anomaly

Spinal Cord Vascular Diseases

Vascular Tissue Disease

Cardiovascular System Disease

Abnormality Of The Cardiovascular System

Cardiovascular Disease

Disease Of Subdivision Of Hemolymphoid System

Disorder Of Cardiovascular System

Cardiovascular Diseases

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

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

Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Type 2 Diabetes

Diabetes Mellitus, Non-Insulin-Dependent

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

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
Canis familiaris LDLR VGNC VGNC:42622
Macaca mulatta LDLR VGNC VGNC:74248
Felis catus LDLR VGNC VGNC:68031
Bos taurus LDLR VGNC VGNC:55214
Mus musculus LDLR MGD MGI:96765
Rattus norvegicus LDLR RGD RGD:2998
Macaca fascicularis LDLR NCBI
Others LDLR NCBI