CPT1A - carnitine palmitoyltransferase 1A Gene

Homo sapiens

Also known as CPT1; CPT1-L; L-CPT1

Gene ID: 1374 | Gene type: protein coding

About CPT1A

Cytogenetic location: 11q13.3 Genomic coordinates (GRCh38): 11:68,754,620-68,844,277 (from NCBI)

This gene has 9 transcripts (splice variants), 222 orthologues, 6 paralogues and is associated with 2 phenotypes. Ubiquitous expression in colon (RPKM 34.6), small intestine (RPKM 28.5) and 25 other tissues.

Summary

The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key Enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

CPT1A Products(2)

mRNA	Protein	Name
NM_001031847.3	NP_001027017.1	carnitine O-palmitoyltransferase 1, liver isoform isoform 2
NM_001876.4	NP_001867.2	carnitine O-palmitoyltransferase 1, liver isoform isoform 1

CPT1A Protein Structure

Carn_acyltransf

0
200
400
600
773 a.a.

Protein Preferred Names

Protein Names

carnitine O-palmitoyltransferase 1, liver isoform

CPT I

Related Diseases

Diseases

Alias

Carnitine Palmitoyltransferase I Deficiency

Carnitine Palmitoyl Transferase 1a Deficiency	Cpt1a Deficiency
Cpt I Deficiency	Carnitine Palmitoyl Transferase Ia Deficiency
Hepatic Carnitine Palmitoyl Transferase 1 Deficiency	Hepatic Carnitine Palmitoyl Transferase I Deficiency
L-Cpt1 Deficiency	Carnitine Palmitoyltransferase 1a Deficiency
Carnitine Palmitoyltransferase Ia Deficiency	Cpt Deficiency, Hepatic, Type I
Cpt Deficiency, Hepatic, Type Ia	Hepatic Carnitine Palmitoyltransferase 1 Deficiency
L-Cpti Deficiency	Hepatic Cpt Deficiency Type I
Hepatic Cpt1	L-Cpt 1 Deficiency
Cpt 1a Deficiency	Liver Form Of Carnitine Palmitoyltransferase Deficiency
CPT1AD	Cpt-I Deficiency

Carnitine Palmitoyltransferase Ii Deficiency, Infantile

Carnitine Palmitoyltransferase Ii Deficiency	Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Carnitine Palmitoyltransferase Ii Deficiency, Late-Onset	Carnitine Palmitoyltransferase Ii Deficiency With Hypoketotic Hypoglycemia
Carnitine Palmitoyltransferase Ii Deficiency, Hepatocardiomuscular	Cpt Ii Deficiency, Hepatic
Cpt2 Deficiency, Infantile	Cpt Ii Deficiency, Infantile
Cpt Ii Deficiency	Carnitine Palmitoyltransferase 2 Deficiency
Cpt2	Carnitine Palmitoyltransferase Deficiency Type 2
Carnitine Palmitoyl Transferase 2 Deficiency	Cpt-Ii
Infantile Carnitine Palmitoyltransferase Ii Deficiency	Late-Onset Carnitine Palmitoyltransferase Ii Deficiency
Lethal Neonatal Carnitine Palmitoyltransferase Ii Deficiency	Carnitine Palmitoyltransferase Ii Deficiency
Cpt2 Deficiency	Cptii
Cpt2, Hepatocardiomuscular Form	Cpt2, Severe Infantile Form
Cptii, Hepatocardiomuscular Form	Cptii, Severe Infantile Form
Carnitine Palmitoyl Transferase Ii Deficiency, Hepatocardiomuscular Form	Carnitine Palmitoyl Transferase Deficiency Type 2, Hepatocardiomuscular Form
Carnitine Palmitoyl Transferase Deficiency Type 2, Severe Infantile Form	Carnitine Palmitoyltransferase 2 Deficiency, Infantile
CPT2DI	Cpt Deficiency, Hepatic, Type Ii
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal

Carnitine-Acylcarnitine Translocase Deficiency

Cact Deficiency	Carnitine Acylcarnitine Translocase Deficiency
CACTD	Carnitine-Acylcarnitine Carrier Deficiency

Hypoglycemia

Hypoglycaemia	Low Blood Sugar
Hypoglycaemia Nos	Spontaneous Hypoglycaemia
Nondiabetic Hypoglycaemia	Hypoglycaemic Disorder Nos
Hypoglycaemic Syndrome

Sudden Infant Death Syndrome

SIDS	Sudden Infant Death Syndrome, Susceptibility To
Cot Death	Crib Death
Sudden Death Of Nonspecific Cause In Infancy	Sudden Infant Death
Death, Sudden, Syndrome, Infant

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

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

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

Non-Alcoholic Steatohepatitis

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

Lipid Storage Disease

Lipoidosis	Inborn Lipid Storage Disorder
Lipoid Storage Diseas	Lipid Storage Diseases
Lipidoses

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

Myopathy

Muscular Diseases

Myopathies

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 (9)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-50202	Etomoxir	Inducer	99.92%	Yes
HY-12364	C75	Inhibitor	99.91%	Unkown
HY-50202A	Etomoxir sodium salt	Inducer	99.73%	Yes
HY-115938	BEC2		≥98.0%	Unkown
HY-12364B	(−)-C75	Inhibitor	/	Unkown
HY-161027	DHP-B	Inducer	/	Unkown
HY-N8144	Niga-ichigoside F1		≥99.0%	Unkown
HY-N9333	Wistin	Agonist	/	Unkown
HY-RS03122	CPT1A Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	CPT1A	RGD	RGD:2396
Canis familiaris	CPT1A	VGNC	VGNC:39579
Macaca mulatta	CPT1A	VGNC	VGNC:71475
Bos taurus	CPT1A	VGNC	VGNC:27676
Mus musculus	CPT1A	MGD	MGI:1098296
Felis catus	CPT1A	VGNC	VGNC:61146

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