APOB - apolipoprotein B Gene

Also Known as FLDB; FCHL2; LDLCQ4; apoB-48; apoB-100

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 338

About APOB

Cytogenetic location: 2p24.1 Genomic coordinates (GRCh38): 2:21,001,429-21,044,073 (from NCBI)

This gene has 4 transcripts (splice variants), 361 orthologues and is associated with 6 phenotypes. Biased expression in liver (RPKM 415.6), small intestine (RPKM 182.7) and 1 other tissue.

Summary

This gene product is the main Apolipoprotein of chylomicrons and low density lipoproteins (LDL), and is the ligand for the LDL receptor. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and the latter in the liver. The intestinal and the hepatic forms of apoB are encoded by a single gene from a single, very long mRNA. The two isoforms share a common N-terminal sequence. The shorter apoB-48 protein is produced after RNA editing of the apoB-100 transcript at residue 2180 (CAA->UAA), resulting in the creation of a stop codon, and early translation termination. Mutations in this gene or its regulatory region cause hypobetalipoproteinemia, normotriglyceridemic hypobetalipoproteinemia, and hypercholesterolemia due to ligand-defective apoB, diseases affecting plasma Cholesterol and apoB levels. [provided by RefSeq, Dec 2019]

APOB Products (1)

mRNA	Protein	Name
NM_000384.3	NP_000375.3	apolipoprotein B-100 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables cholesterol transfer activity	IMP IMP: Inferred from mutant phenotype	15797858	GOA
enables heparin binding	IDA IDA: Inferred from direct assay	16233946	GOA
enables lipase binding	IPI IPI: Inferred from physical interaction	9685400	GOA
enables low-density lipoprotein particle receptor binding	IMP IMP: Inferred from mutant phenotype	2563166	GOA
enables low-density lipoprotein particle receptor binding	IPI IPI: Inferred from physical interaction	27477018	GOA
enables phospholipid binding	IDA IDA: Inferred from direct assay	7126555	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	8245722	GOA
enables receptor ligand activity	IDA IDA: Inferred from direct assay	27477018	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in cellular response to lipoprotein particle stimulus	IDA IDA: Inferred from direct assay	27477018	GOA
involved in cholesterol homeostasis	IMP IMP: Inferred from mutant phenotype	2563166	GOA
involved in cholesterol metabolic process	IMP IMP: Inferred from mutant phenotype	2563166	GOA
involved in cholesterol transport	IMP IMP: Inferred from mutant phenotype	2563166	GOA
involved in low-density lipoprotein particle clearance	IMP IMP: Inferred from mutant phenotype	2563166	GOA
involved in low-density lipoprotein particle remodeling	IMP IMP: Inferred from mutant phenotype	15797858	GOA
involved in positive regulation of cholesterol storage	IDA IDA: Inferred from direct assay	19114110	GOA
involved in positive regulation of lipid storage	IDA IDA: Inferred from direct assay	18322245	GOA
involved in positive regulation of macrophage derived foam cell differentiation	IDA IDA: Inferred from direct assay	17244792	GOA
involved in response to virus	IEP IEP: Inferred from expression pattern	16548883	GOA

Cellular Component GO Annotation	Evidence	Références	Source
part of chylomicron	IDA IDA: Inferred from direct assay	4363408	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	22580899	GOA
located in endoplasmic reticulum exit site	IDA IDA: Inferred from direct assay	27138255	GOA
is active in extracellular space	IDA IDA: Inferred from direct assay	26224785	GOA
part of intermediate-density lipoprotein particle	IDA IDA: Inferred from direct assay	1917954	GOA
part of low-density lipoprotein particle	IDA IDA: Inferred from direct assay	4363408	GOA
part of mature chylomicron	IDA IDA: Inferred from direct assay	4363408	GOA
located in neuronal cell body	IDA IDA: Inferred from direct assay	22897442	GOA
part of very-low-density lipoprotein particle	IDA IDA: Inferred from direct assay	4363408	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

APOB Protein Structure

Vitellogenin_N

DUF1943

DUF1081

ApoB100_C

0
800
1600
2400
3200
4000
4563 a.a.

Protein Preferred Names	Protein Names
apolipoprotein B-100	apolipoprotein B (including Ag(x) antigen)

APOB Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	APOB	P04114	LDLR	Homo sapiens	P01130	NMR	24447298
Intra	APOB	P04114	LDLR	Homo sapiens	P01130	SPR	24447298
Cross	APOB	P04114	P29991-PRO_0000037946	Dengue virus type 2	P29991-PRO_0000037946	Y2H	21911577
Cross	APOB	P04114	P29991-PRO_0000037946	Dengue virus type 2	P29991-PRO_0000037946	Split-Luc	21911577

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant APOB Proteins

Cat. No.	Nom du produit	Accession	Pureté
HY-P7524	Apolipoprotein B-100/APOB Protein, Human (His, solution)	P04114 (E28-S127)	≥ 90%, as determined by reducing SDS-PAGE.

APOB Anticorps

Cat. No.	Nom du produit	Application	Reactivity
HY-P82821	ApoB Antibody (YA2566)	WB, IP, FC	Human
HY-P83937	ApoB Antibody (YA3634)	ICC/IF, FC, ELISA	Human
HY-P83937A	ApoB Antibody (YA3634)(PBS only)	ICC/IF, FC, ELISA	Human

Related Diseases

Diseases	Alias
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
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
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
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
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
Familial Hyperlipidemia	Familial Hyperlipoproteinemia Hyperlipidaemia Hyperlipoproteinemias Hyperlipidemia Hyperlipemia Hyperlipidemias
Abetalipoproteinemia	Acanthocytosis ABL Bassen-Kornzweig Syndrome Mtp Deficiency Familial Hypobetalipoproteinemia Abetalipoproteinaemia Microsomal Triglyceride Transfer Protein Deficiency Microsomal Triglyceride Transfer Protein Deficiency Disease Abetalipoproteinemia Neuropathy Apolipoprotein B Deficiency Bassen-Kornzweig Disease Betalipoprotein Deficiency Disease Congenital Betalipoprotein Deficiency Syndrome Homozygous Familial Hypobetalipoproteinemia Fhbl Bassen Kornzweig Syndrome Hypobetalipoproteinemia, Familial Hypobetalipoproteinemia Hypobetalipoproteinemias Hypobetalipoproteinemia, Familial, Apolipoprotein B
Peripheral Vascular Disease	Peripheral Arterial Disease Arterial Occlusive Disease Arterial Occlusive Diseases Pad Peripheral Vascular Diseases Peripheral Occlusive Disease Peripheral Arterial Diseases Helicobacter Infections
Chylomicron Retention Disease	CMRD Anderson Disease Lipid Transport Defect Of Intestine Hypobetalipoproteinemia With Accumulation Of Apolipoprotein B-Like Protein In Intestinal Cells Andd Anderson Syndrome Crd Andersons Disease Malabsorption Syndrome
Arcus Corneae	Arcus Senilis Corneal Arcus Arcus Of Cornea
Carotid Artery Disease	Carotid Artery Diseases Disorder Of Carotid Artery
Arteriosclerosis	Arteriosclerotic Vascular Disease
Vascular Disease	Vascular Diseases Aneurysm Spinal Cord Ischemia Vascular Anomaly Spinal Cord Vascular Diseases Vascular Tissue Disease
Hypolipoproteinemia	Hypolipoproteinaemia Lipoprotein Deficiencies Lipoprotein Disorder Hypolipoproteinemias Lipoprotein Lipoprotein Deficiency Hypolipidaemia Lipoprotein Deficiency Disorder High-Density Lipoid Deficiency High-Density Lipoprotein Deficiency Dyslipidaemia, Depressed Hdl Cholesterol
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
Hypertriglyceridemia 1	Hypertriglyceridemia Hypertriglyceridemia, Familial Hypertriglyceridemia, Susceptibility To HYTG1 FHTR Hypertriglyceridemias Familial
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
Cerebrovascular Disease	Cerebrovascular Disorder Cerebrovascular Accident Cerebrovascular Disorders Cva Stroke
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
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
Xanthomatosis	Xanthomatosis, Susceptibility To Xanthelasmatosis
Lecithin:Cholesterol Acyltransferase Deficiency	Norum Disease Lcat Deficiency Familial Lcat Deficiency Fld Lecithin Acyltransferase Deficiency Complete Lcat Deficiency Lecithin Cholesterol Acyltransferase Deficiency Lecithin-Cholesterol Acyltransferase Deficiency Familial Lecithin-Cholesterol Acyltransferase Deficiency Norum'S Disease LCATD Deficiency, Lecithin:Cholesterol Acyltransferase
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
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
Cardiovascular System Disease	Abnormality Of The Cardiovascular System Cardiovascular Disease Disease Of Subdivision Of Hemolymphoid System Disorder Of Cardiovascular System Cardiovascular Diseases
Atherosclerosis Susceptibility	Atherosclerosis Atherosclerosis, Susceptibility To ATHS Atherogenic Lipoprotein Phenotype Alp Arteriosclerosis
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
Hyperinsulinism	Hyperinsulinemia
Aortic Atherosclerosis	Atherosclerosis Of Aorta Aorta Atheroma Aorta Calcification Aorta Arteriosclerosis Aortic Degeneration Aortic Calcification Aortic Atheroma Aortic Arteriosclerotic Disease Aortic Arteriosclerosis Aorta Sclerosis Aorta Degeneration Atheromatous Aortic Calcified Aortic Stenosis Atheromatous Aorta Arteriosclerotic Aortitis Arteriosclerotic Aortic Stenosis Arteriosclerotic Aorta Disease Aortic Sclerosis
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
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
Hyperuricemia	Blood Urate Raized Uricacidemia
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
Prediabetes Syndrome	Prediabetes Impaired Glucose Tolerance Prediabetic State IGT Igt - [Impaired Glucose Tolerance] Impaired Glucose Tolerance With Unspecified Complication Impaired Glucose Tolerance Without Complication Abnormal Glucose Tolerance
Riboflavin Deficiency	Ariboflavinosis Maternal Riboflavin Deficiency RBFVD Vitamin B2 Deficiency Hyporiboflavinosis
Tangier Disease	Analphalipoproteinemia High Density Lipoprotein Deficiency, Tangier Type TGD High Density Lipoprotein Deficiency, Type 1 Hdldt1 Familial High Density Lipoprotein Deficiency A-Alphalipoprotein Neuropathy Alpha High Density Lipoprotein Deficiency Disease Cholesterol Thesaurismosis Familial High Density Lipoprotein Deficiency Disease Hdl Lipoprotein Deficiency Disease Tangier Disease Neuropathy Familial Alpha-Lipoprotein Deficiency Familial High-Density Lipoprotein Deficiency 1 Primary Hypoalphalipoproteinemia 1 Analphalipo-Proteinemia Familial Hypoalphalipo-Proteinemia Familial Hypoalphalipoproteinemia Lipoprotein Deficiency Disease, Hdl, Familial Tangier Hereditary Neuropathy Atp-Binding Cassette Transporter A1 Deficiency Hdld1 High Density Lipoprotein Deficiency 1 Tangier Disease, Variant Hypoalphalipoproteinemia, Familial Familial Hdl Deficiency
Hypothyroidism	Thyroid Diseases Thyroid Disease Thyroid Deficiency Thyroid Insufficiency Dysfunction Thyroid Thyroid Dysfunction
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
Niemann-Pick Disease	Sphingomyelin/Cholesterol Lipidosis Niemann-Pick Diseases Lipoid Histiocytosis Sphingomyelin Lipidosis Sphingomyelinase Deficiency Disease Lipid Histiocytosis Neuronal Cholesterol Lipidosis Neuronal Lipidosis Npd Sphingomyelinase Deficiency Niemann-Pick Disease, Type A
Type 1 Diabetes Mellitus	Diabetes Mellitus, Insulin-Dependent Diabetes Mellitus Type 1 IDDM Type 1 Diabetes Insulin-Dependent Diabetes Mellitus T1D Juvenile-Onset Diabetes Jod Diabetes Mellitus, Type 1 Diabetes Mellitus, Insulin-Dependent-1 Type I Diabetes Mellitus Autoimmune Diabetes Juvenile Diabetes Juvenile-Onset Diabetes Mellitus Diabetes, Insulin Dependent Insulin-Dependent Diabetes Mellitus-1 Diabetes Mellitus Insulin-Dependent Diabetes Autoimmune Diabetes Mellitus, Insulin-Dependent, Susceptibility To Diabetes Mellitus, Type 1, Susceptibility To Diabetes Type 1 Type I Diabetes Diabetes, Autoimmune T1dm - [Type 1 Diabetes Mellitus] Iddm - [Insulin Dependent Diabetes Mellitus] Type 1 Iddm Juvenile Diabetes Mellitus Without Compications Idiopathic Insulin-Dependent Diabetes Mellitus Without Complications Juvenile-Onset Diabetes Mellitus Without Compications Ketosis-Prone Diabetes Mellitus Without Compications Juvenile-Onset-Type Diabetes Mellitus Without Compications
Hyperglycemia
Hypobetalipoproteinemia, Familial, 2	Familial Hypobetalipoproteinemia 2 FHBL2 Hypolipidemia, Familial, Combined Combined Familial Hypolipidemia Combined Hypobetalipoproteinemia Familial Hypobetalipoproteinemia, Familial, Type 2
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
Acute Myocardial Infarction	Cardiac Attack Heart Attack
Coronary Stenosis	Coronary Artery Stenosis
Hyperlipoproteinemia, Type Iv	Hyperlipoproteinemia Type Iv Carbohydrate-Inducible Hyperlipemia Endogenous Hyperlipidaemia Familial Hypertriglyceridemia Fredrickson Type Iv Hyperlipoproteinemia Fredrickson Type Iv Lipidaemia Fredrickson Type Iv Lipidemia Vldl Hyperlipoproteinemia Hyperlipoproteinemia Type 4 Carbohydrate Inducible Hyperlipemia Familial Type Iv Hyperlipoproteinemia Familial Hyperlipoproteinemia Type Iv
Corneal Degeneration	Degenerative Corneal Opacity
Fatty Liver Disease	Alcoholic Fatty Liver Fatty Liver Fatty Liver, Alcoholic Fatty Change Of Liver Hepatic Lipidosis Steatosis Of Liver Fatty Liver Alcoholic Steatohepatitis Etoh Fatty Liver Etoh Fatty Liver Metamorphosis Fatty Etoh Liver Necrosis
Hyperlipoproteinemia, Type I	Lipoprotein Lipase Deficiency Familial Chylomicronemia Syndrome Lpl Deficiency Hyperchylomicronemia, Familial Hyperlipemia, Idiopathic, Burger-Grutz Type Hyperlipemia, Essential Familial Lipase D Deficiency Lipd Deficiency Hyperlipoproteinemia, Type Ia Chylomicronemia, Familial High Density Lipoprotein Cholesterol Level Qtl 11 Hyperlipoproteinemia Type 1 Hyperlipoproteinemia 1 HLPP1 Lipoprotein Lipase Hyperlipoproteinemia Type I Familial Hyperchylomicronemia Syndrome
Diabetes Mellitus	Diabetes
Nephrotic Syndrome	Finnish Congenital Nephrotic Syndrome Ns - [Nephrotic Syndrome] Nephrosis Syndrome Nephrosis Nos Glomerular Lesion Nephrosis
Macular Degeneration, Age-Related, 1	Macular Degeneration Age-Related Macular Degeneration Macular Degeneration, Age-Related Age Related Macular Degeneration Age Related Macular Degeneration 1 ARMD1 Senile Macular Degeneration Maculopathy, Age-Related, 1 Macular Degeneration, Age-Related, Reduced Risk Of Age Related Maculopathy 1 Age Related Maculopathies Age Related Maculopathy Senile Macular Retinal Degeneration Macular Degeneration Of Retina Age-Related Maculopathy Amd Armd Age-Related Maculopathy, Susceptibility To Maculopathy Age-Related Macular Degeneration, Age-Related, 1, Susceptibility To Maculopathy, Age-Related Macular Degeneration, Age-Related, Type 1 Macular Degeneration, Age-Related, 2
Sleep Apnea	Sleep Apnea Syndromes
Tobacco Addiction	Nicotine Dependence Tobacco Addiction, Susceptibility To Nicotine Addiction Tobacco Use Disorder Smoking Habit Nicotine Dependence, Protection Against Nicotine Addiction, Protection From Cigarette Habituation Cigarette Habituation, Susceptibility To Smoking Habit, Susceptibility To Nicotine Dependence, Susceptibility To Nicotine Addiction, Susceptibility To Addiction, Tobacco, Susceptibility To Compulsive Tobacco User Syndrome Tobacco Dependence Tobacco Dependence Syndrome Cigarette Addiction Cigarette Dependence Smoking Addiction Smokers Syndrome
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
Fetal Macrosomia
Familial Lipoprotein Lipase Deficiency	Familial Lpl Deficiency Familial Hyperchylomicronemia Hyperlipoproteinemia Type I Familial Hyperlipoproteinemia Type I Hyperchylomicronemia Burger-Grutz Syndrome Endogenous Hypertriglyceridaemia Familial Fat-Induced Hypertriglyceridemia Lipd Deficiency Lpl Deficiency Lipase D Deficiency Lipoprotein Lipase Deficiency, Familial Familial Chylomicronemia Syndrome Fredrickson Type I Hyperlipoproteinemia Fredrickson Type I Lipaemia Hypercholesterinaemic Xanthomatosis Mixed Hyperglyceridemia Lipoprotein Lipase Deficiency Type I Hyperlipoproteinemia Hyperlipoproteinemia Type Ia Familial Hyperlipo-Proteinemia Type 1
Nonobstructive Coronary Artery Disease	Non-Cad Non-Obstructive Coronary Artery Disease
Abdominal Obesity-Metabolic Syndrome 1	Metabolic Syndrome X Metabolic Syndrome AOMS1 Dysmetabolic Syndrome X Metabolic Disease Abdominal Obesity Metabolic Syndrome
Silent Myocardial Infarction
Intestinal Pseudo-Obstruction	Chronic Intestinal Pseudoobstruction Chronic Intestinal Pseudo-Obstruction Cipo Neuronal Intestinal Dysplasia Hollow Visceral Myopathy Familial Visceral Neuropathy Paralytic Ileus Intestinal Pseudoobstruction Chronic Idiopathic Intestinal Pseudo-Obstruction Ciip Congenital Short Bowel Syndrome Enteric Neuropathy Familial Visceral Myopathy Ipo Pseudo-Obstruction Of Intestine Pseudointestinal Obstruction Syndrome Pseudoobstructive Syndrome Congenital Idiopathic Intestinal Pseudoobstruction Visceral Myopathy, Familial
Hypoalphalipoproteinemia
Hepatoblastoma
Juvenile Rheumatoid Arthritis	Juvenile Idiopathic Arthritis Juvenile Chronic Polyarthritis Monarticular Juvenile Rheumatoid Arthritis Pauciarticular Juvenile Arthritis Still'S Disease Systemic Juvenile Rheumatoid Arthritis Juvenile Chronic Arthritis Acute Juvenile Rheumatoid Arthritis Pauciarticular Onset Juvenile Chronic Arthritis Arthritis, Juvenile Rheumatoid Jia Jra Juvenile Ra Arthritis Juvenile Rheumatoid Stills Disease Juvenile Arthritis Acute Polyarticular Juvenile Rheumatoid Arthritis Pauciarticular Juvenile Rheumatoid Arthritis Rheumatoid Arthritis, Systemic Juvenile
Gestational Diabetes	Gestational Diabetes Mellitus GDM Diabetes Mellitus Arising In Pregnancy Maternal Gestational Diabetes Mellitus Diabetes Mellitus, Gestational Diabetes Mellitus, Pregnancy Related Diabetes, Pregnancy-Induced Diabetes Gestational Diabetes, Gestational Diabetes Of Pregnancy Gdm - [Gestational Diabetes Mellitus] Gestational Diabetes Mellitus Nos Gestational Diabetes Complicating Pregnancy, Childbirth, Or The Puerperium
Liver Disease	Liver Failure Liver Diseases Abnormality Of The Liver Liver Dysfunction Disorder Of Liver Hepatic Disorder Hepatic Disease Disease Of Bilirubin Metabolism Disorder Of Bilirubin Metabolism Liver Decompensation Liver Function Failure Hepatic Failure Nos Liver Failure Nos End Stage Liver Disease Decompensated Liver Failure Decompensation Of Liver Function Hepatic Decompensation Hepatic Insufficiency Liver Cell Necrosis With Hepatic Failure Liver Insufficiency Decompensated Liver Disease End Stage Liver Failure Liver Necrosis With Hepatic Failure
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 Obesity , Susceptibility To BMIQ11 Obesity Bmiq11 Obesity, Early-Onset Simple Obesity Nos Excess Fat Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified Adiposis
Hypoalphalipoproteinemia, Primary, 1	Familial Hdl Deficiency Fha High Density Lipoprotein Deficiency Familial Hypoalphalipoproteinemia Hypoalphalipoproteinemia, Familial Hdld Fhd Hdl Deficiency, Type 2 Primary Hypoalphalipoproteinemia 1 Hdl Cholesterol, Low Serum Hdlc Hdl Deficiency, Familial, 1 Hypoalphalipoproteinemia, Primary Low Serum Hdl Cholesterol Primary Hypoalphalipoproteinemia FHA1 Hdld2 High Density Lipoprotein Deficiency 2 Hypoalphalipoproteinemias Apolipoprotein A-I Deficiency
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
Acquired Immunodeficiency Syndrome	Acquired Immune Deficiency Syndrome AIDS Acquired Immune Deficiency Acquired Immunodeficiency Acquired Immunodeficiency Due To Protein Loss
Intermediate Coronary Syndrome	Unstable Angina Angina At Rest Anginal Chest Pain At Rest Impending Infarction Preinfarction Angina Worsening Angina Angina, Unstable Myocardial Preinfarction Syndrome Angina Unstable Crescendo Angina Angina Decubitus Acute Coronary Insufficiency Unstable Angina Pectoris Preinfarctional Angina Pectoris Worsening Effort Angina Preinfarction Syndrome Unstable Angina Pectoris Syndrome Unstable Anginal Attack Unstable Cardiac Angina Unstable Chest Angina Unstable Heart Angina De Novo Effort Angina Pectoris Crescendo Angina Pectoris Ua - [Unstable Angina]
Hypoalphalipoproteinemia, Primary, 2	Apolipoprotein A-I Deficiency Hypoalphalipoproteinemia, Primary, 2, Autosomal Recessive Primary Hypoalphalipoproteinemia 2 High Density Lipoprotein Deficiency Apoa-I Deficiency Familial Apoa-I Deficiency Familial Hypoalphalipoproteinemia FHA2 Apolipoprotein A-I
Peripheral Artery Disease	Peripheral Arterial Disease Peripheral Arterial Diseases
Generalized Atherosclerosis	Generalised Atherosclerosis
Beta-Thalassemia	Beta Thalassemia Cooley'S Anemia Mediterranean Anemia Beta Thalassemia Intermedia Erythroblastic Anemia Thalassemia, Hispanic Gamma-Delta-Beta Thalassemia Major Thalassemia Minor Beta-Plus-Thalassemia Thalassemia, Beta Beta Thalassemia Major Beta Thalassemia Minor Thalassemias, Beta- Microcytemia, Beta Type Thalassemia, Beta Type B-THAL Mediterranean Anaemia Beta Thalassaemia Syndrome Mediterranean Disease Beta Thalassaemia Disease
Cerebral Atherosclerosis	Intracranial Arteriosclerosis
Lysosomal And Lipase Deficiency
Platelet Glycoprotein Iv Deficiency	Platelet-Type Bleeding Disorder 10 Bdplt10 Cd36 Deficiency Bleeding Disorder, Platelet-Type, 10 PG4D Bleeding Disorder Platelet-Type 10 Deficiency, Platelet Glycoprotein Iv
Cholesterol Ester Storage Disease
Aortic Valve Disease 1	Aortic Valve Disease Bicuspid Aortic Valve Aortic Valve Disorder AOVD1 Bav Bicuspid Aortic Valve Disease Familial Bicuspid Aortic Valve Aortic Valve Calcification Aovd Aortic Valve, Bicuspid Aortic Valve, Calcification Of Aortic Stenosis, Calcific Familial Bav Calcific Aortic Stenosis Calcification Of Aortic Valve Abnormality Of The Aortic Valve Aortic Valve Disease, Type 1 Aortic Valve Disease 2 Bicommissural Aortic Valve
Holoprosencephaly	Holoprosencephaly Sequence Hpe Hpe - [Holoprosencephaly]
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
Lysosomal Acid Lipase Deficiency	Wolman Disease Cholesteryl Ester Storage Disease Lal Deficiency Lipa Deficiency Cholesterol Ester Storage Disease CESD Cholesterol Ester Hydrolase Deficiency Acid Lipase Deficiency Acid Esterase Deficiency Familial Xanthomatosis Wolman Xanthomatosis Wolman'S Disease Wolman'S Or Triglyceride Storage Type Iii Disease Xanthomatosis, Familial Liposomal Acid Lipase Deficiency, Wolman Type Familial Visceral Xanthomatosis Primary Familial Xanthomatosis Primary Familial Xanthomatosis With Adrenal Calcification Acid Lipase Disease WOD Acid Cholesteryl Ester Hydrolase Deficiency, Type 2
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
Arteries, Anomalies Of	Artery Disease Arteriopathic Disease
Aortic Valve Disease 2	Aortic Valve Stenosis Aortic Stenosis Rheumatic Aortic Stenosis AOVD2 Bicuspid Aortic Valve Rheumatic Aortic Valve Stenosis Valvular Aortic Stenosis Aortic Valve Disease, Type 2 Aortic Valve Stricture Aortic Valve Obstruction Obstructed Aorta Valve Rheumatic Aortic Obstruction Rheumatic Aortic Valve Obstruction Rheumatic Aortic Stricture Aortic Valve Regurgitation Aortic Insufficiency With Stenosis Rheumatic Aortic Valve Stenosis With Insufficiency Rheumatic Aortic Stenosis With Incompetence Rheumatic Aortic Stenosis With Regurgitation
Hepatic Flexure Cancer	Ca Hepatic Flexure - Colon Malignant Neoplasm Of Hepatic Flexure Malignant Tumor Of Hepatic Flexure Carcinoma Of Hepatic Flexure Malignant Neoplasm Of Hepatic Flexure Of Colon
Ichthyosis	Ichthyoses Non-Syndromic Ichthyosis Congenital Ichthyosis
Inherited Metabolic Disorder	Inborn Errors Of Metabolism Inborn Metabolic Disorder Inborn Metabolism Disorder Metabolic Hereditary Disorder Inborn Error Of Metabolism Metabolism, Inborn Errors
Lipid Storage Disease	Lipoidosis Inborn Lipid Storage Disorder Lipoid Storage Diseas Lipid Storage Diseases Lipidoses
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal Obesity-Metabolic Syndrome Abdominal Obesity Metabolic Syndrome Metabolic Syndrome X Aoms2 Aoms1
Non-Alcoholic Steatohepatitis	Nonalcoholic Steatohepatitis Nash Nash - [Non-Alcoholic Steatohepatitis] Non-Alcoholic Steatohepatosis
Overnutrition
Carbohydrate Metabolic Disorder	Inborn Errors Of Carbohydrate Metabolism Disorder Of Carbohydrate Metabolism Carbohydrate Metabolism, Inborn Errors Disorder Of Carbohydrate Transport And Metabolism Inborn Carbohydrate Metabolism Disorder Inborn Carbohydrate Metabolic Disorder Carbohydrate Metabolism Disorder Carbohydrate Metabolism Disorders Disorders Of Carbohydrate Metabolism Congenital Disorders Of Carbohydrate Metabolism Inherited Disorders Of Carbohydrate Metabolism
Glucose Metabolism Disease	Glucose Metabolism Disorders Disorder Of Glucose Metabolism
Acquired Metabolic Disease
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
Inflammatory Bowel Disease	Inflammatory Bowel Diseases Bowel Disease, Inflammatory
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
Maturity-Onset Diabetes Of The Young	MODY Maturity Onset Diabetes Mellitus In Young Mason-Type Diabetes Mason Type Diabetes Maturity Onset Diabetes Of The Young Mody Syndrome Diabetes Of The Young, Maturity-Onset
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

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

Related Agents

Approval
Clinical Phase
Pre-clinical Phase

Approval

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-148647	Mipomersen	Inhibitor	96.88%	Unkown

Clinical Phase

Bioactive Molecules (2)

Cat. No.	Nom du produit	Effect	Pureté	Phase
HY-108764	Mipomersen sodium	Inhibitor	95.60%	Phase 3
HY-18778	Obicetrapib	Inhibitor	99.93%	Phase 2

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-179364	PLTP-IN-1		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	APOB	VGNC	VGNC:37994
Mus musculus	APOB	MGD	MGI:88052
Rattus norvegicus	APOB	RGD	RGD:2129
Macaca mulatta	APOB	VGNC	VGNC:69985
Bos taurus	APOB	VGNC	VGNC:26026
Felis catus	APOB	VGNC	VGNC:67787
Others	APOB	NCBI