GCDH - glutaryl-CoA dehydrogenase Gene

Homo sapiens

Also known as GCD; ACAD5

Gene ID: 2639 | Gene type: protein coding

About GCDH

Cytogenetic location: 19p13.13 Genomic coordinates (GRCh38): 19:12,891,129-12,899,999 (from NCBI)

This gene has 16 transcripts (splice variants), 242 orthologues, 14 paralogues and is associated with 3 phenotypes. Ubiquitous expression in liver (RPKM 11.6), kidney (RPKM 10.0) and 25 other tissues.

Summary

The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family. It catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. The Enzyme exists in the mitochondrial matrix as a homotetramer of 45-kD subunits. Mutations in this gene result in the metabolic disorder glutaric aciduria type 1, which is also known as glutaric acidemia type I. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 12. [provided by RefSeq, Mar 2013]

GCDH Products(2)

mRNA	Protein	Name
NM_000159.4	NP_000150.1	glutaryl-CoA dehydrogenase, mitochondrial isoform a precursor
NM_013976.5	NP_039663.1	glutaryl-CoA dehydrogenase, mitochondrial isoform b precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables glutaryl-CoA dehydrogenase activity	IDA IDA: Inferred from direct assay	8541831	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in fatty acid beta-oxidation using acyl-CoA dehydrogenase	IDA IDA: Inferred from direct assay	25416781	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

GCDH Protein Structure

Acyl-CoA_dh_N

Acyl-CoA_dh_M

Acyl-CoA_dh_1

0
100
200
300
400
438 a.a.

Protein Preferred Names

Protein Names

glutaryl-CoA dehydrogenase, mitochondrial

glutaryl-Coenzyme A dehydrogenase

Recombinant GCDH Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70888	GCDH Protein, Human (His)	Q92947-1 (R45-K438)	≥95%
HY-P76357	GCDH Protein, Human (sf9, His)	Q92947-1/NP_000150.1 (R45-K438)	≥95%

Related Diseases

Diseases

Alias

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

Leukodystrophy, Hypomyelinating, 2

Pmld1	Hypomyelinating Leukodystrophy 2
HLD2	Pelizaeus-Merzbacher-Like Disease 1
Pelizaeus-Merzbacher-Like Disease Due To Gjc2 Mutation	Pelizaeus-Merzbacher-Like Disease Type 1
Pelizaeus-Merzbacher-Like Disease, 1	Pelizaeus Merzbacher Like Disease
Pelizaeus-Merzbacher-Like Disease	Pmld - Pelizaeus Merzbacher Like Disease
Pelizaeus-Merzbacher-Like Disease Autosomal Recessive Type 1	Pmldar1
Leukodystrophy, Hypomyelinating, Type 2

Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria

2-Aminoadipic 2-Oxoadipic Aciduria	Amoxad
AAKAD	2-Ketoadipic Aciduria
Alpha-Aminoadipic Aciduria	Amino Adipic Aciduria
Aciduria, 2-Aminoadipic 2-Oxoadipic

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

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Athetosis

Organic Acidemia

Organic Aciduria	Disorder Of Organic Acid Metabolism
Organic Acid Metabolism Disorder	Organic Acidemias
Inherited Organic Acidemia	Organic Acidurias
Aciduria Organic

Charcot-Marie-Tooth Disease, Axonal, Type 2q

Charcot-Marie-Tooth Disease Axonal Type 2q	CMT2Q
Charcot-Marie-Tooth Neuropathy, Type 2q	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2q
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2q	Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2q
Charcot-Marie-Tooth Neuropathy Type 2q	Charcot-Marie-Tooth Disease 2q
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2q	Charcot-Marie-Tooth Neuropathy Axonal Type 2q

Dyskinetic Cerebral Palsy

Athetoid Cerebral Palsy	Athetoid Dyskinetic Cerebral Palsy
Cerebral Palsy Athetoid	Cerebral Palsy Dyskinetic
Athetoid Cerebral Paralysis	Dyskinetic Cerebral Paralysis
Vogt Disease	Athetoid Cerebrum Palsy
Double Athetosis Syndrome	État Marbré

Amino Acid Metabolic Disorder

Amino Acid Metabolism, Inborn Errors	Inborn Errors Of Amino Acid Metabolism
Disorder Of Amino Acid Metabolism	Amino Acid Metabolism Disorders

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

Leukoencephalopathy With Vanishing White Matter

Cree Leukoencephalopathy	Vanishing White Matter Disease
Ovarioleukodystrophy	Vanishing White Matter Leukodystrophy
Childhood Ataxia With Central Nervous System Hypomyelinization	Cach
Cach Syndrome	Myelinosis Centralis Diffusa
VWM	Cle
Childhood Ataxia With Central Nervous System Hypomyelination	Childhood Ataxia With Diffuse Central Nervous System Hypomyelination
Cach/Vwm	Cach/Vwm Syndrome
Childhood Ataxia With Central Nervous System Hypomyelination/Vanishing White Matter	Cree Leukoencehalopathy
Late Infantile Cach Syndrome	Juvenile Or Adult Cach Syndrome
Congenital Or Early Infantile Cach Syndrome	Leukodystrophy With Vanishing White Matter

L-2-Hydroxyglutaric Aciduria

L-2-Hydroxyglutaric Acidemia	L2HGA
L-2-Hga	Aciduria, L-2-Hydroxyglutaric
Combined D-2- And L-2-Hydroxyglutaric Aciduria

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

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

2-Hydroxyglutaric Aciduria

2-Hga	2-Hydroxyglutaric Acidemia
2-Hydroxyglutaricaciduria	Combined D-2- And L-2-Hydroxyglutaric Aciduria

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

D-2-Hydroxyglutaric Aciduria 1

D-2-Hydroxyglutaric Aciduria	D2HGA1
D-2-Hga	D-2-Hydroxyglutaric Acidemia
D2ha	D2hga
Aciduria, D-2-Hydroxyglutaric, Type 1	Combined D-2- And L-2-Hydroxyglutaric Aciduria

Multiple Carboxylase Deficiency

Mcd	Holocarboxylase Synthetase 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

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

Spastic Cerebral Palsy

Palsy, Cerebral, Spastic	Infantile Hemiplegia Nos
Postnatal Infantile Hemiplegia Nos	Congenital Spastic Hemiplegia
Spastic Hemiplegic Cerebral Palsy	Congenital Hemiplegia Nos
Hemiplegic Cerebral Palsy	Hemiplegic Infantile Cerebral Palsy

Megalencephalic Leukoencephalopathy With Subcortical Cysts 1

Van Der Knaap Disease	Leukoencephalopathy With Swelling And Cysts
MLC1	Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts
Lvm	Vl
Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, 1	Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, Type 1
Megalencephalic Leukoencephalopathy With Subcortical Cysts

Cerebral Creatine Deficiency Syndrome 1

Creatine Transporter Deficiency	Creatine Transporter Defect
Slc6a8 Deficiency	X-Linked Creatine Deficiency Syndrome
CCDS1	Creatine Deficiency Syndrome, X-Linked
X-Linked Creatine Deficiency	Creatine Deficiency, X-Linked
X-Linked Creatine Transporter Deficiency	Mental Retardation, X-Linked, With Seizures, Short Stature, And Midface Hypoplasia
Mental Retardation, X-Linked, With Creatine Transport Deficiency	Intellectual Disability, X-Linked With Seizures, Short Stature And Midface Hypoplasia
Intellectual Disability, X-Linked, With Creatine Transport Deficiency	Slc6a8-Related Creatine Transporter Deficiency
Deficiency, Cerebral Creatine, Syndrome, 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

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

Methylmalonic Acidemia

Methylmalonic Aciduria	Mma
Acidemia, Methylmalonic	Isolated Methylmalonic Acidemia

Movement Disease

Movement Disorders

Movement Disorder

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05321	GCDH Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	GCDH	VGNC	VGNC:29282
Canis familiaris	GCDH	VGNC	VGNC:41141
Macaca mulatta	GCDH	VGNC	VGNC:72898
Mus musculus	GCDH	MGD	MGI:104541
Felis catus	GCDH	VGNC	VGNC:62489
Rattus norvegicus	GCDH	RGD	RGD:1308829
Others	GCDH	NCBI

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