IVD - isovaleryl-CoA dehydrogenase Gene

Homo sapiens

Also known as IVDH; ACAD2

Gene ID: 3712 | Gene type: protein coding

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	Reference	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	Reference	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

Recombinant IVD Proteins

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

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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06999	IVD Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-D0932S	Sudan IV-d6		/	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

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