OGDH - oxoglutarate dehydrogenase Gene

Homo sapiens

Also known as E1k; E1o; KGD1; OGDC; AKGDH; OGDH2; OGDHD; OGDH-E1

Gene ID: 4967 | Gene type: protein coding

About OGDH

Cytogenetic location: 7p13 Genomic coordinates (GRCh38): 7:44,606,627-44,709,066 (from NCBI)

This gene has 9 transcripts (splice variants), 284 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in heart (RPKM 71.3), kidney (RPKM 57.5) and 24 other tissues.

Summary

This gene encodes one subunit of the 2-oxoglutarate dehydrogenase complex. This complex catalyzes the overall conversion of 2-oxoglutarate (alpha-ketoglutarate) to succinyl-CoA and CO(2) during the Krebs cycle. The protein is located in the mitochondrial matrix and uses thiamine pyrophosphate as a cofactor. A congenital deficiency in 2-oxoglutarate dehydrogenase activity is believed to lead to hypotonia, metabolic acidosis, and hyperlactatemia. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009]

OGDH Products(4)

mRNA	Protein	Name
NM_001003941.3	NP_001003941.1	2-oxoglutarate dehydrogenase complex component E1 isoform 2 precursor
NM_001165036.2	NP_001158508.1	2-oxoglutarate dehydrogenase complex component E1 isoform 3 precursor
NM_001363523.2	NP_001350452.1	2-oxoglutarate dehydrogenase complex component E1 isoform 4 precursor
NM_002541.4	NP_002532.2	2-oxoglutarate dehydrogenase complex component E1 isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables oxoglutarate dehydrogenase (succinyl-transferring) activity	IDA IDA: Inferred from direct assay	24495017	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	GOA
enables thiamine pyrophosphate binding	IDA IDA: Inferred from direct assay	24495017	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in 2-oxoglutarate metabolic process	IDA IDA: Inferred from direct assay	24495017	GOA
involved in succinyl-CoA metabolic process	IDA IDA: Inferred from direct assay	24495017	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in mitochondrion	IDA IDA: Inferred from direct assay	29211711	GOA
located in nucleus	IDA IDA: Inferred from direct assay	29211711	GOA
part of oxoglutarate dehydrogenase complex	IDA IDA: Inferred from direct assay	29211711	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

OGDH Protein Structure

E1_dh

Transket_pyr

0
200
400
600
800
1023 a.a.

Protein Preferred Names

Protein Names

2-oxoglutarate dehydrogenase complex component E1

2-oxoglutarate dehydrogenase, mitochondrial

OGDC-E1

Related Diseases

Diseases

Alias

Oxoglutarate Dehydrogenase Deficiency

Alpha-Ketoglutarate Dehydrogenase Deficiency	Oxoglutaricaciduria
Oxoglutaric Aciduria	OGDHD
Alpha-Kgd Deficiency	2-Ketoglutarate Dehydrogenase Deficiency
2 Alpha Ketoglutarate Dehydrogenase Deficiency	Alpha Kgd Deficiency

Wernicke-Korsakoff Syndrome

Korsakoff Syndrome	Transketolase Defect
Korsakoff'S Syndrome	Alcohol-Induced Encephalopathy
Korsakoff'S Psychosis	Korsakov Psychosis
Korsakov'S Psychosis	Alcohol Induced Encephalopathy
Korsakoff Disease	Korsakoff Psychosis

Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome

Door Syndrome	Doors Syndrome
Digitorenocerebral Syndrome	Autosomal Recessive Deafness-Onychodystrophy Syndrome
Deafness-Onychoosteodystrophy-Intellectual Disability Syndrome	DOORS
Drc Syndrome	Eronen Syndrome
Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome	Brachydactyly Due To Absence Of Distal Phalanges
Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome	Deafness, Onychodystrophy, Osteodystrophy, And Mental Retardation Syndrome
Deafness-Oncychodystrophy-Osteodystrophy-Intellectual Disability Syndrome	Autosomal Recessive Hearing Loss-Onychodystrophy Syndrome
Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome	Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome
Hearing Loss-Onychoosteodystrophy-Intellectual Disability Syndrome	Deafness, Onychodystrophy, Osteodystrophy, Intellectual Disability, And Seizures Syndrome
Deafness, Congenital Onychodystrophy, Recessive Form	Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation Syndrome

Beriberi

Thiamine Deficiency	Vitamin B1 Deficiency
Aneurin Deficiency	Thiamine Vitamin Deficiency
Beriberi Nos	Beriberi Due To Vitamin B1 Deficiency
Beriberi Due To Thiamine Vitamin Deficiency	Kakkè

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

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

Metabolic Acidosis

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

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

Primary Biliary Cholangitis

Primary Biliary Cirrhosis	Biliary Liver Cirrhosis
Chronic Nonsuppurative Destructive Cholangitis	Familial Primary Biliary Cirrhosis
Pbc	Hanot Syndrome
Cholestatic Cirrhosis	Biliary Cirrhosis Primary
Liver Cirrhosis, Biliary	Hanot'S Cirrhosis
Biliary Cirrhosis	Pericholangiolic Biliary Cirrhosis
Tannhauser-Magendantz Syndrome	Hanot-Rossle Syndrome
Hypertrophic Cirrhosis	Todd Cirrhosis
Hanot Cirrhosis	Charcot Cirrhosis
Mahon-Tannhauser Syndrome	Toxic Cirrhosis
Hypertrophic Biliary Cirrhosis	Monolobular Cirrhosis
Unilobar Cirrhosis	Xanthomatous Biliary Cirrhosis

Hypotonia

Fanconi Syndrome

Infantile Nephropathic Cystinosis	Adult Fanconi Syndrome
Congenital Fanconi Syndrome	De Toni-Fanconi Syndrome
Fanconi-De Toni Syndrome	Lignac-Fanconi Syndrome
Fanconi Renotubular Syndrome	Primary Fanconi Renotubular Syndrome
De Toni-Debre-Fanconi Syndrome	Adult Fanconi Anemia
Detoni Fanconi Syndrome	Fanconi-De-Toni Syndrome
Primary Fanconi Syndrome	Detoni-Debre-Fanconi Syndrome
Primary Fanconi Renal Syndrome	Fanconi Anemia
Cystinosis, Infantile Nephropathic	Fanconi-Bickel Syndrome
Renal Fanconi Syndrome	Lowe-Bickel Syndrome

Infantile Cerebellar-Retinal Degeneration

ICRD	Infantile Cerebellar Retinal Degeneration
Degeneration, Cerebellar-Retinal, Infantile

Thiamine Deficiency Disease

Alzheimer Disease, Familial, 1

Alzheimer Disease	Alzheimer'S Disease
Presenile And Senile Dementia	AD1
Alzheimer Disease, Susceptibility To	Alzheimer Disease, Late-Onset, Susceptibility To
Alzheimer Disease 1, Familial	AD
Familial Alzheimer Disease	Alzheimer Disease, Late-Onset
Alzheimers Dementia	Alzheimer Dementia
Alzheimer Sclerosis	Alzheimer Syndrome
Alzheimer-Type Dementia	Dat
Primary Senile Degenerative Dementia	Sdat
Alzheimer Disease 1	Autosomal Dominant Alzheimer Disease
Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy	Late Onset Alzheimer Disease
Alzheimers Disease	Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
Late-Onset Alzheimers Disease	Alzheimer'S Disease Pathway Kegg
Dementia Due To Alzheimer'S Disease	Alzheimer Disease Type 1
Alzheimers

3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy	3-Methylglutaconic Aciduria Type 3
Costeff Syndrome	Mga3
Costeff Optic Atrophy Syndrome	Optic Atrophy Plus Syndrome
Infantile Optic Atrophy With Chorea And Spastic Paraplegia	3-Methylglutaconic Aciduria Type Iii
Autosomal Recessive Optic Atrophy Plus Syndrome	Autosomal Recessive Optic Atrophy Type 3
Opa3 Defect	MGCA3
Mga, Type Iii	Iraqi Jewish Optic Atrophy Plus
Mga Type Iii	Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia
Iraqi-Jewish 'Optic Atrophy Plus'	Optic Atrophy 3, Autosomal Recessive
Opa3, Autosomal Recessive	Opa3-Related 3-Methylglutaconic Aciduria
Iraqi-Jewish Optic Atrophy Plus	Atrophy Of Optic Disc
3-Alpha Methylglutaconic Aciduria Type Iii	Optic Atrophy 3
Optic Atrophy Infantile With Chorea And Spastic Paraplegia	Autosomal Recessive Opa3
Autosomal Recessive Optic Atrophy 3	3-Methylglutaconic Aciduria 3
3-Alpha-Methylglutaconic Aciduria Type 3	Optic Atrophy 3 Autosomal Recessive
Atrophy, Optic	Atrophy, Optic, Plus Syndrome
Optic Nerve Atrophy	Primary Optic Atrophy
Oa - [Optic Atrophy]	Second Cranial Nerve Atrophy
Second Cranium Nerve Atrophy

Parkinson Disease, Late-Onset

Parkinson Disease	Parkinson'S Disease
PD	PARK
Parkinson Disease, Susceptibility To	Late Onset Parkinson'S Disease
Late Onset Parkinson Disease	Paralysis Agitans
Primary Parkinsonism	Idiopathic Parkinson Disease
Parkinson'S	Parkinson Disease, Late-Onset, Susceptibility To
Parkinson Disease, Age Of Onset, Modifier	Lewy Body Parkinson Disease
Idiopathic Parkinson'S Disease	Pd - [Parkinson Disease]
Parkinson Disease Nos	Parkinson, Nos
Primary Parkinson Disease

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-12688A	Succinyl phosphonate trisodium salt	Inhibitor	≥98.0%	Unkown
HY-12688	Succinyl phosphonate	Inhibitor	/	Unkown
HY-RS09758	OGDH Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	OGDH	VGNC	VGNC:81489
Mus musculus	OGDH	MGD	MGI:1098267
Canis familiaris	OGDH	VGNC	VGNC:106422
Bos taurus	OGDH	VGNC	VGNC:32406
Felis catus	OGDH	VGNC	VGNC:80645
Rattus norvegicus	OGDH	RGD	RGD:1561359
Others	OGDH	NCBI

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