IVD - isovaleryl-CoA dehydrogenase Gene

Also Known as IVDH; ACAD2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3712

About IVD

Cytogenetic location: 15q15.1 Genomic coordinates (GRCh38): 15:40,405,795-40,435,947 (from NCBI)

This gene has 15 transcripts (splice variants), 203 orthologues, 14 paralogues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 25.0), liver (RPKM 18.5) and 24 other tissues.

Summary

Isovaleryl-CoA dehydrogenase (IVD) is a mitochondrial matrix enzyme that catalyzes the third step in leucine catabolism. The genetic deficiency of IVD results in an accumulation of isovaleric acid, which is toxic to the central nervous system and leads to isovaleric acidemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2017]

IVD Products (7)

mRNA	Protein	Name
NM_001159508.3	NP_001152980.2	isovaleryl-CoA dehydrogenase, mitochondrial isoform 2 precursor
NM_001354597.3	NP_001341526.1	isovaleryl-CoA dehydrogenase, mitochondrial isoform 3
NM_001354598.3	NP_001341527.2	isovaleryl-CoA dehydrogenase, mitochondrial isoform 4
NM_001354599.3	NP_001341528.2	isovaleryl-CoA dehydrogenase, mitochondrial isoform 5
NM_001354600.3	NP_001341529.2	isovaleryl-CoA dehydrogenase, mitochondrial isoform 6
NM_001354601.3	NP_001341530.2	isovaleryl-CoA dehydrogenase, mitochondrial isoform 7
NM_002225.5	NP_002216.3	isovaleryl-CoA dehydrogenase, mitochondrial isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables 3-methylbutanoyl-CoA dehydrogenase activity	IDA IDA: Inferred from direct assay	3597357	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in L-leucine catabolic process	IDA IDA: Inferred from direct assay	7640268	GOA
involved in branched-chain amino acid catabolic process	IDA IDA: Inferred from direct assay	7640268	GOA
involved in fatty acid beta-oxidation using acyl-CoA dehydrogenase	IDA IDA: Inferred from direct assay	3597357	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

IVD Protein Structure

Acyl-CoA_dh_N

Acyl-CoA_dh_M

Acyl-CoA_dh_1

0
100
200
300
400
426 a.a.

Protein Preferred Names	Protein Names
isovaleryl-CoA dehydrogenase, mitochondrial	butyryl-CoA dehydrogenase

IVD Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	IVD	P26440	ACTN3	Homo sapiens	Q08043	Validated Y2H	32296183
Intra	IVD	P26440	GPSM3	Homo sapiens	Q9Y4H4	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant IVD Proteins

Cat. No.	Product Name	Accession	Purity
HY-P73857	IVD Protein, Human (sf9, His)	P26440-1 (H33-H426)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
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
Deafness, Autosomal Recessive 110	DFNB110 Autosomal Recessive Nonsyndromic Deafness 110 Autosomal Recessive Deafness 110 Deafness, Autosomal Recessive, 110
Glycogen Storage Disease Ixc	GSD9C Glycogen Storage Disease Type Ixc Gsd Ixc Glycogen Storage Disease Type 9c Glycogenosis Type 9c Glycogenosis Type Ixc Gsd Type 9c Gsd Type Ixc Glycogen Storage Disease 9c Alg Autosomal Liver Glycogenosis Gsd-Ixc Storage Disease, Glycogen, Type Ixc
Metabolic Acidosis
Glycerol Kinase Deficiency	Hyperglycerolemia GKD Gk Deficiency Gk1 Deficiency Deficiency Of Glycerol Kinase Isolated Glycerol Kinase Deficiency Glycerol Kinase Deficiency, Adult Form Glycerol Kinase Deficiency, Juvenile Form Deficiency, Glycerol Kinase
Rapp-Hodgkin Syndrome	RHS Anhidrotic Ectodermal Dysplasia With Cleft Lip/Palate Ectodermal Dysplasia, Rapp-Hodgkin Type Rapp-Hodgkin Ectodermal Dysplasia Syndrome Ectodermal Dysplasia, Anhidrotic, With Cleft Lip/Palate Ectodermal Dysplasia Syndrome, Rapp-Hodgkin Type Edrh Rapp-Hodgkin Ectodermal Dysplasia Orofacial Cleft 8
Glutaric Aciduria Iii	Glutaryl-Coa Oxidase Deficiency Ga Iii Glutaric Acidemia Type 3 GA3 Glutaric Aciduria Type 3 Glutaric Aciduria 3 Glutaric Acidemia Type Iii Glutaric Aciduria Type Iii
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
Organic Acidemia	Organic Aciduria Disorder Of Organic Acid Metabolism Organic Acid Metabolism Disorder Organic Acidemias Inherited Organic Acidemia Organic Acidurias Aciduria Organic
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
Cerebral Creatine Deficiency Syndrome 3	Arginine:Glycine Amidinotransferase Deficiency Agat Deficiency Gatm Deficiency Creatine Deficiency Syndrome Due To Agat Deficiency L-Arginine:Glycine Amidinotransferase Deficiency CCDS3 L-Arginine:Glycine Aminidotransferase Deficiency Deficiency, Cerebral Creatine, Syndrome, Type 3
Methylmalonic Acidemia	Methylmalonic Aciduria Mma Acidemia, Methylmalonic Isolated Methylmalonic Acidemia
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
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

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-RS06999	IVD Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-D0932S	Sudan IV-d6		/	Unkown
HY-RS18896	Ivd Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25387	Ivd Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	IVD	MGD	MGI:1929242
Felis catus	IVD	VGNC	VGNC:80945
Bos taurus	IVD	VGNC	VGNC:50203
Rattus norvegicus	IVD	RGD	RGD:2936
Macaca mulatta	IVD	VGNC	VGNC:84362
Canis familiaris	IVD	VGNC	VGNC:54961
Others	IVD	NCBI