MTTP - microsomal triglyceride transfer protein Gene

Homo sapiens

Also known as ABL; MTP

Gene ID: 4547 | Gene type: protein coding

About MTTP

Cytogenetic location: 4q23 Genomic coordinates (GRCh38): 4:99,564,130-99,623,997 (from NCBI)

This gene has 7 transcripts (splice variants), 210 orthologues and is associated with 5 phenotypes. Biased expression in small intestine (RPKM 140.0), duodenum (RPKM 122.9) and 1 other tissue.

Summary

MTP encodes the large subunit of the heterodimeric microsomal triglyceride transfer protein. Protein disulfide isomerase (PDI) completes the heterodimeric microsomal triglyceride transfer protein, which has been shown to play a central role in lipoprotein assembly. Mutations in MTP can cause abetalipoproteinemia. [provided by RefSeq, Jul 2008]

MTTP Products(3)

mRNA	Protein	Name
NM_001300785.2	NP_001287714.2	microsomal triglyceride transfer protein large subunit isoform 2
NM_001386140.1	NP_001373069.1	microsomal triglyceride transfer protein large subunit isoform 1 precursor
NM_000253.4	NP_000244.2	microsomal triglyceride transfer protein large subunit isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ceramide 1-phosphate transfer activity	IDA IDA: Inferred from direct assay	23475612	GOA
enables cholesterol transfer activity	IDA IDA: Inferred from direct assay	15897609	GOA
enables cholesterol transfer activity	IMP IMP: Inferred from mutant phenotype	8876250	GOA
enables phosphatidylcholine transfer activity	IDA IDA: Inferred from direct assay	16478722	GOA
enables phosphatidylcholine transfer activity	IMP IMP: Inferred from mutant phenotype	8876250	GOA
enables phosphatidylethanolamine transfer activity	IDA IDA: Inferred from direct assay	15897609	GOA
enables phospholipid transfer activity	IDA IDA: Inferred from direct assay	23475612	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10946006	GOA
enables protein heterodimerization activity	IDA IDA: Inferred from direct assay	23475612	GOA
enables triglyceride transfer activity	IDA IDA: Inferred from direct assay	15897609	GOA
enables triglyceride transfer activity	IMP IMP: Inferred from mutant phenotype	8876250	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in phospholipid transport	IDA IDA: Inferred from direct assay	23475612	GOA
involved in plasma lipoprotein particle assembly	IDA IDA: Inferred from direct assay	16478722	GOA
involved in plasma lipoprotein particle assembly	IMP IMP: Inferred from mutant phenotype	8876250	GOA
involved in protein secretion	IDA IDA: Inferred from direct assay	16478722	GOA
involved in protein secretion	IMP IMP: Inferred from mutant phenotype	8876250	GOA
involved in triglyceride transport	IDA IDA: Inferred from direct assay	22236406	GOA
involved in triglyceride transport	IMP IMP: Inferred from mutant phenotype	23749231	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	16478722	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	16478722	GOA
part of receptor complex	IDA IDA: Inferred from direct assay	23382219	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

MTTP Protein Structure

Vitellogenin_N

0
200
400
600
800
894 a.a.

Protein Preferred Names

Protein Names

microsomal triglyceride transfer protein large subunit

microsomal triglyceride transfer protein (large polypeptide, 88kDa)

Related Diseases

Diseases

Alias

Retinal Degeneration

Degeneration Of Retina

Cardiovascular System Disease

Abnormality Of The Cardiovascular System	Disease Of Subdivision Of Hemolymphoid System
Disorder Of Cardiovascular System	Cardiovascular Diseases
Cardiovascular Disease

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

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

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

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

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

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

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

Arcus Corneae

Arcus Senilis	Corneal Arcus
Arcus Of Cornea

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

Diabetes Mellitus

Diabetes

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

Familial Hyperlipidemia

Familial Hyperlipoproteinemia	Hyperlipidaemia
Hyperlipoproteinemias	Hyperlipemia
Hyperlipidemias	Hyperlipidemia

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

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

Abetalipoproteinemia

Acanthocytosis	ABL
Bassen-Kornzweig Syndrome	Mtp Deficiency
Familial Hypobetalipoproteinemia	Abetalipoproteinaemia
Microsomal Triglyceride Transfer Protein Deficiency	Microsomal Triglyceride Transfer Protein Deficiency Disease
Abetalipoproteinemia Neuropathy	Bassen-Kornzweig Disease
Apolipoprotein B Deficiency	Betalipoprotein Deficiency Disease
Congenital Betalipoprotein Deficiency Syndrome	Homozygous Familial Hypobetalipoproteinemia
Fhbl	Bassen Kornzweig Syndrome
Hypobetalipoproteinemia, Familial	Hypobetalipoproteinemia
Hypobetalipoproteinemias	Hypobetalipoproteinemia, Familial, Apolipoprotein B

Abdominal Obesity-Metabolic Syndrome 1

Metabolic Syndrome X	Metabolic Syndrome
AOMS1	Dysmetabolic Syndrome X
Metabolic Disease	Abdominal Obesity Metabolic Syndrome

Non-Alcoholic Steatohepatitis

Nonalcoholic Steatohepatitis	Nash
Nash - [Non-Alcoholic Steatohepatitis]	Non-Alcoholic Steatohepatosis

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

Hypobetalipoproteinemia, Familial, 2

Familial Hypobetalipoproteinemia 2	FHBL2
Hypolipidemia, Familial, Combined	Combined Familial Hypolipidemia
Combined Hypobetalipoproteinemia Familial	Hypobetalipoproteinemia, Familial, Type 2

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

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

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

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08822	MTTP Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS08823	Mttp Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS08824	Mttp Rat Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	MTTP	VGNC	VGNC:31754
Macaca mulatta	MTTP	VGNC	VGNC:75077
Rattus norvegicus	MTTP	RGD	RGD:1308388
Felis catus	MTTP	VGNC	VGNC:68352
Mus musculus	MTTP	MGD	MGI:106926
Canis familiaris	MTTP	VGNC	VGNC:43495

Name
Email *

	Sorry, but the email address you supplied was invalid.