ACADVL - acyl-CoA dehydrogenase very long chain Gene

Also Known as ACAD6; LCACD; VLCAD

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 37

About ACADVL

Cytogenetic location: 17p13.1 Genomic coordinates (GRCh38): 17:7,217,125-7,225,266 (from NCBI)

This gene has 39 transcripts (splice variants), 190 orthologues, 14 paralogues and is associated with 3 phenotypes. Ubiquitous expression in adrenal (RPKM 228.7), duodenum (RPKM 185.5) and 25 other tissues.

Summary

The protein encoded by this gene is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fatty acids. A deficiency in this gene product reduces myocardial fatty acid beta-oxidation and is associated with cardiomyopathy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

ACADVL Products (4)

mRNA	Protein	Name
NM_000018.4	NP_000009.1	very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 1 precursor
NM_001033859.3	NP_001029031.1	very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 2 precursor
NM_001270447.2	NP_001257376.1	very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 3
NM_001270448.2	NP_001257377.1	very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 4

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables acyl-CoA dehydrogenase activity	IMP IMP: Inferred from mutant phenotype	9461620	GOA
enables flavin adenine dinucleotide binding	IDA IDA: Inferred from direct assay	9461620	GOA
enables identical protein binding	IDA IDA: Inferred from direct assay	9461620	GOA
enables long-chain fatty acyl-CoA dehydrogenase activity	IDA IDA: Inferred from direct assay	7668252	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables very-long-chain fatty acyl-CoA dehydrogenase activity	IDA IDA: Inferred from direct assay	9461620	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in epithelial cell differentiation	IEP IEP: Inferred from expression pattern	21492153	GOA
involved in fatty acid beta-oxidation using acyl-CoA dehydrogenase	IDA IDA: Inferred from direct assay	7668252	GOA
involved in fatty acid beta-oxidation using acyl-CoA dehydrogenase	IMP IMP: Inferred from mutant phenotype	9599005	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial membrane	IDA IDA: Inferred from direct assay	16020546	GOA
located in mitochondrial nucleoid	IDA IDA: Inferred from direct assay	18063578	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	9461620	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

ACADVL Protein Structure

Acyl-CoA_dh_N

Acyl-CoA_dh_M

Acyl-CoA_dh_1

0
200
400
600
655 a.a.

Protein Preferred Names	Protein Names
very long-chain specific acyl-CoA dehydrogenase, mitochondrial	acyl-Coenzyme A dehydrogenase, very long chain

ACADVL Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ACADVL	P49748	TAF1B	Homo sapiens	Q53T94	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

ACADVL Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P86761	ACADVL/VLCAD Antibody (YA6454)	WB, IHC-P, ICC/IF, IF-Tissue, IP	Human

Related Diseases

Diseases	Alias
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Vlcad Deficiency Very Long Chain Acyl-Coa Dehydrogenase Deficiency Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency Lcad Deficiency Very Long-Chain Acyl-Coa Dehydrogenase Deficiency Long Chain Acyl-Coa Dehydrogenase Deficiency ACADVLD Acadl Deficiency Vlcadd Long-Chain Acyl-Coa Dehydrogenase Deficiency Acadvl Acyl-Coa Dehydrogenase Very Long Chain Deficiency Very Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency Vlcad-C Vlcad-H Acyl-Coa Dehydrogenase, Very Long Chain, Deficiency Of Acyl-Coa Dehydrogenase Very Long-Chain Deficiency Acyl-Coa Dehydrogenase Long-Chain Deficiency Deficiency, Very Long Chain Acyl-Coa Dehydrogenase Long Chain/Very Long Chain Acyl Coa Dehydrogenase Deficiency
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Mcad Deficiency Carnitine Deficiency Secondary To Medium-Chain Acyl-Coa Dehydrogenase Deficiency Acadm Deficiency Acyl-Coa Dehydrogenase, Medium Chain, Deficiency Of Medium Chain Acyl-Coa Dehydrogenase Deficiency ACADMD Mcadh Deficiency Mcadd Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency Acyl-Coa Dehydrogenase Medium-Chain Deficiency Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency Medium Chain Acyl Dehydrogenase Deficiency
Pericardial Effusion	Noninflammatory Pericardial Effusion Pericardium Effusion
Hypoglycemia	Hypoglycaemia Low Blood Sugar Hypoglycaemia Nos Spontaneous Hypoglycaemia Nondiabetic Hypoglycaemia Hypoglycaemic Disorder Nos Hypoglycaemic Syndrome
Myopathy	Muscular Diseases Myopathies
Rare Cardiomyopathy
Citrullinemia, Classic	Citrullinemia Classic Citrullinemia Argininosuccinate Synthetase Deficiency Ass Deficiency Citrullinemia Type I CTLN1 Citrullinuria Citrullinemia, Type I Argininosuccinic Acid Synthetase Deficiency Ctnl1 Citrullinemia 1 Deficiency Of Citrulline-Aspartate Ligase Cit Argininosuccinate Synthase Deficiency Argininosuccinic Acid Synthase Deficiency Citrullinemia Type 1 Citrullinemia Classical
Myoglobinuria
Myoglobinuria, Recurrent	Myoglobinuria Recurrent Recurrent Myoglobinuria Mitochondrial RM-MT
Carnitine Deficiency, Systemic Primary	Carnitine Uptake Defect Renal Carnitine Transport Defect Systemic Primary Carnitine Deficiency CDSP Systemic Carnitine Deficiency Carnitine Transporter Deficiency Cud Primary Carnitine Deficiency Carnitine Uptake Deficiency Carnitine Deficiency, Systemic, Due To Defect In Renal Reabsorption Of Carnitine Carnitine Deficiency, Primary Systemic Primary Carnitine Deficiency Disease Deficiency Of Plasma-Membrane Carnitine Transporter Scd Carnitine Transporter, Plasma-Membrane, Deficiency Of Carnitine Transport Defect Carnitine Plasma-Membrane Transporter Deficiency Carnitine Transporter Defect Spcd
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
Mitochondrial Complex I Deficiency, Nuclear Type 20	Acyl-Coa Dehydrogenase 9 Deficiency Acad9 Deficiency MC1DN20 Mitochondrial Complex I Deficiency Due To Acad9 Deficiency Nuclear Type Mitochondrial Complex I Deficiency 20 Acyl-Coa Dehydrogenase Family, Member 9, Deficiency Of Mitochondrial Complex 1 Deficiency Due To Acad9 Deficiency Deficiency Of Acyl-Coa Dehydrogenase Family Member 9 Acyl-Coa Dehydrogenase Family, Member 9, Deficiency
Vitamin B12 Deficiency	Cobalamin Deficiency Hypocobalaminemia Vitamin B 12 Deficiency Cyanocobalamin Deficiency Deficiency Of Vitamin B12
Carnitine-Acylcarnitine Translocase Deficiency	Cact Deficiency Carnitine Acylcarnitine Translocase Deficiency CACTD Carnitine-Acylcarnitine Carrier Deficiency
Mitochondrial Trifunctional Protein Deficiency	Tfp Deficiency MTPD Trifunctional Protein Deficiency Trifunctional Protein Deficiency With Myopathy And Neuropathy Tfpd Familial Hypertrophic Cardiomyopathy Cardiomyopathy Familial Hypertrophic Familial Hcm Heritable Hypertrophic Cardiomyopathy Mtp Deficiency Tpa Deficiency Trifunctional Protein Deficiency, Type 2 Abetalipoproteinemia
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
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Scad Deficiency Acads Deficiency Lipid-Storage Myopathy Secondary To Short-Chain Acyl-Coa Dehydrogenase Deficiency Scadh Deficiency Short-Chain Acyl-Coa Dehydrogenase Deficiency Deficiency Of Butyryl-Coa Dehydrogenase Short Chain Acyl-Coa Dehydrogenase Deficiency ACADSD Scadd Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency Acyl-Coa Dehydrogenase, Short Chain, Deficiency Of Acyl-Coa Dehydrogenase Short-Chain Deficiency
Isovaleric Acidemia	Isovaleric Acid Coa Dehydrogenase Deficiency Isovaleryl-Coa Dehydrogenase Deficiency IVA Ivd Deficiency Acidemia, Isovaleric Isovaleric Aciduria Isovaleryl Coa Carboxylase Deficiency Isovaleric Acid-Coa Dehydrogenase Deficiency
3-Methylcrotonyl-Coa Carboxylase Deficiency	3-Methylcrotonylglycinuria Mcc Deficiency Methylcrotonyl-Coa Carboxylase Deficiency Bmcc Deficiency 3-Mcc Deficiency 3mcc Mccd 3mcc Deficiency Isolated 3-Methylcrotonyl-Coa Carboxylase Deficiency 3-Mcc 3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency Deficiency Of Methylcrotonoyl-Coa Carboxylase 3-Methyl Crotonyl-Coa Carboxylase Deficiency 3-Methylcrotonyl Coa Carboxylase 1 Deficiency
Multiple Acyl-Coa Dehydrogenase Deficiency	MADD Ethylmalonic-Adipicaciduria Ema Glutaric Acidemia Iia Glutaric Acidemia Iib Ga Ii Glutaric Acidemia Iic Glutaric Acidemia Type 2 Glutaric Acidemia Ii Glutaric Aciduria Ii Electron Transfer Flavoprotein Deficiency Glutaric Aciduria Type 2 Mad Deficiency Glutaric Acidemia Type Ii Glutaric Aciduria 2 Etfa Deficiency Etfb Deficiency Etfdh Deficiency Multiple Acyl Coenzyme A Dehydrogenase Deficiency Ga2 Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency Electron Transfer Flavoprotein Dehydrogenase Deficiency Ga 2 Glutaric Acidemia 2 Glutaric Acidemia, Type 2 Glutaric Aciduria, Type 2 Mad Multiple Fad Dehydrogenase Deficiency Ethylmalonic Adipic Aciduria Glutaricaciduria Ii Glutaric Aciduria 2a GA2A Gaiia Glutaricaciduria Iia Glutaric Aciduria 2b GA2B Gaiib Glutaricaciduria Iib Glutaric Aciduria 2c GA2C Gaiic Glutaricaciduria Iic Glutaricaciduria, Type Iia Glutaric Acidemia Type 2a Glutaric Acidemia Type 2c Glutaric Aciduria Iia Glutaric Aciduria Iib Glutaric Aciduria Iic
Nuclear Type Mitochondrial Complex I Deficiency	Mc1dn Mitochondrial Complex I Deficiency, Nuclear Type Mitochondrial Complex I Deficiency, Nuclear
Atrial Standstill 1	ATRST1 Atrial Cardiomyopathy With Heart Block Cardiomyopathy, Familial, With Conduction Disturbance Atrial Standstill, Digenic Familial Cardiomyopathy With Conduction Disturbance Standstill, Atrial, Type 1 Heart Block Cardiomyopathies Idiopathic Cardiomyopathy Idiopathic Cardiopathy Primary Myocardial Disease Primary Cardiomyopathy Myocardiopathy Myocardosis Primary Idiopathic Myocardial Disease
Arthrogryposis Multiplex Congenita-3
Galactosemia I	Galactosemia Galt Deficiency Classic Galactosemia Galactose-1-Phosphate Uridylyltransferase Deficiency Galactose-1-Phosphate Uridyltransferase Deficiency GALAC1 Galactosemia, Classic Galactosemia Type 1 Galactosemias Classical Galactosemia Galactosaemia Galactose Intolerance Epimerase Deficiency Galactosemia Galactokinase Deficiency Disease Galactose Epimerase Deficiency Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease Gale Deficiency Galk Deficiency Udp-Galactose-4-Epimerase Deficiency Disease Utp Hexose-1-Phosphate Uridylyltransferase Deficiency Galactosemia 1 Galactosemia, Duarte Variant Deficiency Of Galactokinase Udpglucose 4-Epimerase Deficiency Disease Classical Galactosaemia Galput Deficiency - [Galactose-4-Phosphate Uridyltransferase] Deficiency Classic Galactosaemia Deficiency Of Hexose-1-Phosphate Uridylyltransferase Deficiency Of Udpglucose-Hexose-1-Phosphate Uridylyltransferase Deficiency Of Galactose-1-Phosphate Uridylyltransferase Galactose-1-Phosphate Uridyl Transferase Deficiency Transferase Deficiency Galactosemia Deficiency Of Uridyl Transferase Deficiency Of Utp-Hexose-1-Phosphate Uridylyltransferase Utp-Hexose-1-Phosphate Uridyltransferase Deficiency
Biotinidase Deficiency	Late-Onset Multiple Carboxylase Deficiency BTD DEFICIENCY Multiple Carboxylase Deficiency, Late-Onset Multiple Carboxylase Deficiency, Juvenile-Onset Juvenile-Onset Multiple Carboxylase Deficiency Biotin Deficiency Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency Deficiency Of Biotinidase Biot Carboxylase Deficiency, Multiple, Late-Onset Late-Onset Mcd Mcd Juvenile Form Biotin Deficiency Disease
Glutaric Acidemia I	Glutaryl-Coa Dehydrogenase Deficiency GA1 Glutaric Acidemia Type 1 Glutaric Aciduria 1 Glutaric Aciduria Type 1 Glutaric Acidemia Type I Glutaric Aciduria, Type 1 Glutaric Aciduria I Ga I Glutaricaciduria, Type I Glutaryl-Coenzyme A Dehydrogenase Deficiency Glutaric Academia Type 1 Glutaric Aciduria Type I Ga-1 Gcdh Deficiency Ga 1 Glutaric Acidemia 1 Gcdhd Glutaric Aciduria, Type I Glutaricaciduria I Ga-I Glutaricaciduria, Type 1
Dystonia 9	DYT9 Choreoathetosis/Spasticity, Episodic Episodic Choreoathetosis/Spasticity Cse Choreoathetosis, Paroxysmal, With Episodic Ataxia Choreoathetosis, Kinesigenic, With Episodic Ataxia And Spasticity Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity Cse Dystonia-9 Kinesigenic Choreoathetosis With Episodic Ataxia And Spasticity Paroxysmal Choreoathetosis With Episodic Ataxia Dystonia, Type 9
Complement Component 2 Deficiency	C2D C2 Deficiency Complement 2 Deficiency Complement Component-2
Reye Syndrome	Reye'S Syndrome Rasmussen Encephalitis Fatty Liver With Encephalopathy Rasmussen'S Encephalitis Re Rs Rasmussen Syndrome Liver Fatty Metamorphosis--Acute Encephalopathy Syndrome Reye Encephalopathy
Multiple Carboxylase Deficiency	Mcd Holocarboxylase Synthetase Deficiency
Alpha-Methylacetoacetic Aciduria	Beta-Ketothiolase Deficiency 3-Ketothiolase Deficiency 3-Oxothiolase Deficiency Mitochondrial Acetoacetyl-Coa Thiolase Deficiency Alpha-Methylacetoaceticaciduria Mat Deficiency T2 Deficiency 2-Methyl-3-Hydroxybutyricacidemia Beta Ketothiolase Deficiency Pseudo-Zellweger Syndrome 2-Methyl-3-Hydroxybutyric Acidemia 3-Ktd Deficiency Peroxisomal Thiolase Deficiency 2-Methylacetoacetyl-Coenzyme A Thiolase Deficiency 3-Alpha-Oxothiolase Deficiency Methylacetoacetyl-Coenzyme A Thiolase Deficiency Mitochondrial 2-Methylacetoacetyl-Coa Thiolase Deficiency - Potassium Stimulated Β-Ketothiolase Deficiency Alpha Methylacetoacetic Aciduria Alpha-Methyl-Acetoacetyl-Coa Thiolase Deficiency Mitochondrial Acetoacetyl-Coenzyme A Thiolase Deficiency 3KTD Aciduria, Alpha-Methylacetoacetic Deficiency Of Acetyl-Coa Acetyltransferase Deficiency Of Acetyl-Coa Acyltransferase Hepatic Methionine Adenosyltransferase Deficiency Bifunctional Peroxisomal Enzyme Deficiency
Schindler Disease, Type I	Schindler Disease Type 1 Alpha-N-Acetylgalactosaminidase Deficiency Type 1 Schindler Disease Type 3 Alpha-N-Acetylgalactosaminidase Deficiency Type 3 Naga Deficiency Type 3 Neuroaxonal Dystrophy, Schindler Type Naga Deficiency Type 1 Alpha-N-Acetylgalactosaminidase Deficiency, Type I Naga Deficiency, Type I Schindler Disease, Type Iii N-Acetyl-Alpha-D-Galactosaminidase Deficiency Type Iii Alpha-N-Acetylgalactosaminidase Deficiency, Type 1 Naga Deficiency, Type 1 Schindler Disease Type I Schindler Disease SCHIND Schindler Disease, Type 3 Schindler Disease, Type 1
Propionic Acidemia	Ketotic Hyperglycinemia Propionyl-Coa Carboxylase Deficiency Pcc Deficiency Propionicacidemia Glycinemia, Ketotic Hyperglycinemia With Ketoacidosis And Leukopenia Ketotic Glycinemia Propionic Aciduria Prop Acidemia, Propionic PA-1 Ketotic Ii Glycinemia Hyperglycinemia, Ketotic Propionic Acidemia Type I Propionic Acidemia Type Ii PA-2 Propionicaciduria
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
Urea Cycle Disorder	Urea Cycle Disorders Urea Cycle Disorders, Inborn Disorder Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia Disorder Of Urea Cycle Metabolism Urea Cycle Defect Ucd Disorder Of The Urea Cycle Metabolism Disorder Of Urea Cycle Disorders Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia Ammonia Metabolic Disorder
Tyrosinemia	Hypertyrosinemia Tyrosinemias Hereditary Tyrosinemia Hypertyrosinaemia Tyrosinaemia Hereditary Hypertyrosinemia
Maple Syrup Urine Disease	MSUD Bckd Deficiency Branched-Chain Ketoaciduria Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency Keto Acid Decarboxylase Deficiency Maple Syrup Urine Disease, Type Ii Branched Chain Ketoaciduria Classic Maple Syrup Urine Disease Intermittent Maple Syrup Urine Disease Maple Syrup Urine Disease, Type Ia Ketoacidaemia Bckdh Deficiency Branched-Chain 2-Ketoacid Dehydrogenase Deficiency Thiamine-Responsive Maple Syrup Urine Disease Intermediate Maple Syrup Urine Disease Maple Syrup Urine Disease Type 1a Maple Syrup Urine Disease Type 1b Maple Syrup Urine Disease Type 2 Maple Syrup Urine Disease, Type Ib Dihydrolipoamide Dehydrogenase Deficiency Branched-Chain Ketoacid Dehydrogenase Deficiency Maple Syrup Disease Ketoacidemia Classic Bckd Deficiency Classic Msud Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Classic Branched-Chain Ketoaciduria Thiamine-Responsive Bckd Deficiency Thiamine-Responsive Msud Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Intermittent Bckd Deficiency Intermittent Msud Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Maple Syrup Urine Disease 1a MSUD1A Maple Syrup Urine Disease Type Ia Msud Type Ia Maple Syrup Urine Disease 1b MSUD1B Maple Syrup Urine Disease Type Ib Msud Type Ib Maple Syrup Urine Disease 2 MSUD2 Maple Syrup Urine Disease Type Ii Msud Type Ii Nadh Cytochrome B5 Reductase Deficiency Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency Ketonemia Maple Syrup Urine Disease, Type 1b Ketoacid Decarboxylase Deficiency Oxoacid Decarboxylase Deficiency Branched Chain Ketoacid Dehydrogenase Deficiency Msud - [Maple-Syrup-Urine Disease] Ketoaminoacidaemia Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency] Maple-Syrup-Urine Disorder Maple-Syrup-Urine Syndrome
Tyrosinemia, Type I	Tyrosinemia Type I Hepatorenal Tyrosinemia Fumarylacetoacetase Deficiency Fah Deficiency TYRSN1 Fumarylacetoacetate Hydrolase Deficiency Tyrosinemia Type 1 Tyrosinemia 1 Fumarylacetoacetase
Organic Acidemia	Organic Aciduria Disorder Of Organic Acid Metabolism Organic Acid Metabolism Disorder Organic Acidemias Inherited Organic Acidemia Organic Acidurias Aciduria Organic
Methylmalonic Acidemia	Methylmalonic Aciduria Mma Acidemia, Methylmalonic Isolated Methylmalonic Acidemia
Mitochondrial Complex I Deficiency, Nuclear Type 1	Mitochondrial Complex I Deficiency Nadh:Q(1) Oxidoreductase Deficiency MC1DN1 Nadh-Coenzyme Q Reductase Deficiency Isolated Mitochondrial Respiratory Chain Complex I Deficiency Isolated Nadh-Coenzyme Q Reductase Deficiency Isolated Nadh-Coq Reductase Deficiency Isolated Nadh-Ubiquinone Reductase Deficiency Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of Nuclear Type Mitochondrial Complex I Deficiency 1 Isolated Complex I Deficiency Complex 1 Mitochondrial Respiratory Chain Deficiency Nadh Coenzyme Q Reductase Deficiency Complex I Mitochondrial Respiratory Chain Deficiency Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I Nadh:Ubiquinone Oxidoreductase Deficiency Complex I, Mitochondrial Respiratory Chain, Deficiency Of
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
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
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis

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

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00131	ACADVL Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-183318	PPARα/δ agonist 4	Agonist	/	Unkown
HY-RS19760	Acadvl Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26257	Acadvl Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	ACADVL	VGNC	VGNC:53258
Bos taurus	ACADVL	VGNC	VGNC:50246
Felis catus	ACADVL	VGNC	VGNC:97339
Macaca mulatta	ACADVL	VGNC	VGNC:81344
Mus musculus	ACADVL	MGD	MGI:895149
Rattus norvegicus	ACADVL	RGD	RGD:2014
Others	ACADVL	NCBI