OAT - ornithine aminotransferase Gene

Homo sapiens

Also known as OKT; GACR; HOGA; OATASE

Gene ID: 4942 | Gene type: protein coding

About OAT

Cytogenetic location: 10q26.13 Genomic coordinates (GRCh38): 10:124,397,303-124,418,923 (from NCBI)

This gene has 8 transcripts (splice variants), 234 orthologues, 4 paralogues and is associated with 3 phenotypes. Broad expression in small intestine (RPKM 198.3), duodenum (RPKM 185.5) and 20 other tissues.

Summary

This gene encodes the mitochondrial Enzyme ornithine aminotransferase, which is a key Enzyme in the pathway that converts arginine and ornithine into the major excitatory and inhibitory neurotransmitters glutamate and GABA. Mutations that result in a deficiency of this Enzyme cause the autosomal recessive eye disease Gyrate Atrophy. Alternatively spliced transcript variants encoding different isoforms have been described. Related pseudogenes have been defined on the X chromosome. [provided by RefSeq, Jan 2010]

OAT Products(10)

mRNA	Protein	Name
NM_000274.4	NP_000265.1	ornithine aminotransferase, mitochondrial isoform 1 precursor
NM_001171814.2	NP_001165285.1	ornithine aminotransferase, mitochondrial isoform 2
NM_001322965.2	NP_001309894.1	ornithine aminotransferase, mitochondrial isoform 1 precursor
NM_001322966.2	NP_001309895.1	ornithine aminotransferase, mitochondrial isoform 1 precursor
NM_001322967.2	NP_001309896.1	ornithine aminotransferase, mitochondrial isoform 1 precursor
NM_001322968.2	NP_001309897.1	ornithine aminotransferase, mitochondrial isoform 1 precursor
NM_001322969.2	NP_001309898.1	ornithine aminotransferase, mitochondrial isoform 1 precursor
NM_001322970.2	NP_001309899.1	ornithine aminotransferase, mitochondrial isoform 1 precursor
NM_001322971.2	NP_001309900.1	ornithine aminotransferase, mitochondrial isoform 3
NM_001322974.2	NP_001309903.1	ornithine aminotransferase, mitochondrial isoform 4

OAT Protein Structure

Aminotran_3

0
100
200
300
400
439 a.a.

Protein Preferred Names

Protein Names

ornithine aminotransferase, mitochondrial

gyrate atrophy

Related Diseases

Diseases

Alias

Gyrate Atrophy Of Choroid And Retina

Gyrate Atrophy	Ornithine Aminotransferase Deficiency
HOGA	Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina
Oat Deficiency	Okt Deficiency
Hyperornithinemia	Ornithine Keto Acid Aminotransferase Deficiency
Ornithine-Delta-Aminotransferase Deficiency	Gyrate Atrophy Of The Choroid And Retina
GACR	Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia
Gyrate Atrophy Of The Retina	Ornithinemia With Gyrate Atrophy
Ornithinemia	Fuchs Atrophia Gyrata Chorioideae Et Retinae
Hyperornithinemia-Gyrate Atrophy Of Choroid And Retina Syndrome	Gyrate Atrophy Of The Choroid And/Or Retina
Girate Atrophy Of The Retina	Ornithine Ketoacid Aminotransferase Deficiency
Atrophy, Gyrate, Of Choroid And Retina

Choroid Disease

Choroid Diseases

Abnormality Of The Choroid

Paine Syndrome

Pain Disorder	Pain
Microcephaly With Spastic Diplegia	Pain Syndrome

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

Flying Phobia

Aerophobia

Eye Disease

Eye Diseases	Abnormality Of The Eye
Toxoplasma Oculopathy

Cystinuria

CSNU	Cystinuria Type B
Cystinuria Type A	Cystinuria, Type I, Formerly
Csnu1, Formerly	Cystinuria, Type Ii, Formerly
Cystinuria, Type Iii, Formerly	Csnu3, Formerly
Cystinuria, Type Non-I, Formerly	Cystinuria-Lysinuria
Cystinuria-Lysinuria Syndrome	Csnu1
Csnu3	Cystinuria 1
Cystinuria Type A/B	Cystinuria Type I
Cystinuria Type Ii	Cystinuria Type Iii
Cystinuria Type Non-I	Cystinuria, Type A/B
Cystinuria Type 1	Cystinuria - Lysinuria
Csnu - [Cystinuria]	Cystine Disease

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

Cerebral Creatine Deficiency Syndrome 2

Guanidinoacetate Methyltransferase Deficiency	Gamt Deficiency
Creatine Deficiency Syndrome Due To Gamt Deficiency	Deficiency Of Guanidinoacetate Methyltransferase
CCDS2	Guanidinoacetate Methyltransferase Deficiency
Deficiency, Cerebral Creatine, Syndrome, Type 2	Language Development Disorders

Cerebral Creatine Deficiency Syndrome

Deficiency, Cerebral Creatine, Syndrome

Retinal Degeneration

Degeneration Of Retina

Parapsoriasis

Digitate Dermatosis	Parapsoriasis En Plaque
Parapsoriasis En Plaques

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Hyperprolinemia, Type I

Proline Oxidase Deficiency	Hyperprolinemia Type 1
HYRPRO1	Hpi
Hyperprolinemia Type I	Hyperprolinemia 1
Proline Dehydrogenase Deficiency

Argininemia

Hyperargininemia	Arginase Deficiency
Arg1 Deficiency	Arginase-1 Deficiency
Deficiency Of Canavanase	Arginase Deficiency Disease
ARGIN

Prolidase Deficiency

Hyperimidodipeptiduria	Imidodipeptidase Deficiency
Peptidase Deficiency	PD
Deficiency Of Prolidase	Imidodipeptiduria
Proline Dipeptidase Deficiency

Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

Hhh Syndrome	Ornithine Translocase Deficiency
Hyperornithinemia-Hyperammonemia-Homocitrullinemia Syndrome	HHHS
Hhh	Triple H Syndrome
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Ornithine Translocase Deficiency Syndrome
Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria Syndrome	Ornt1 Deficiency
Ornithine Carrier Deficiency	Hyperornithinemia, Hyperammonemia, Homocitrullinuria Syndrome

Rheumatic Myocarditis

Acute Rheumatic Myocarditis	Active Rheumatic Fever With Myocarditis
Acute Rheumatic Carditis	Rheumatic Degeneration Of Myocardium
Rheumatic Fever With Myocarditis	Rheumatoid Myocarditis
Acute Rheumatic Heart Disease	Acute Rheumatic Fever With Myocarditis
Active Or Acute Rheumatic Myocarditis	Active Rheumatic Myocarditis
Active Rheumatic Progressive Myocarditis	Chronic Active Rheumatic Myocarditis
Old Active Rheumatic Myocarditis	Active Rheumatic Fibroid Myocarditis
Active Rheumatic Interstitial Myocarditis	Acute Or Subacute Rheumatic Myocardial Insufficiency
Acute Rheumatic Toxic Myocarditis	Inactive Or Quiescent Rheumatic Fever With Myocarditis
Inactive Rheumatic Myocarditis	Rheumatic Progressive Myocarditis
Rheumatic Fibroid Myocarditis	Rheumatic Interstitial Myocarditis
Myocardial Degeneration With Rheumatic Fever	Myocardial Insufficiency With Rheumatic Fever
Rheumatic Cardiomyopathy	Dilated Cardiomyopathy Due To Rheumatic Fever
Myocarditis Due To Rheumatic Fever	Rheumatic Myocardial Insufficiency

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

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

Uveal Disease

Uveal Diseases

Cataract

Cataracts	Cat - [Cataract]
Cataract Form	Lens Opacity
Lens Opacities

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 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

Approval

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-15592	Cabotegravir	Inhibitor	99.84%	Unkown
HY-15258	Lesinurad	Inhibitor	99.93%	Unkown
HY-15258A	Lesinurad sodium	Inhibitor	99.97%	Unkown
HY-15592A	Cabotegravir sodium	Inhibitor	99.87%	Unkown

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-111345	Epaminurad	Inhibitor	99.75%	Phase 3

Pre-clinical Phase

Bioactive Molecules (11)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-122009	Indican		99.41%	Unkown
HY-154021A	5-Fluoromethylornithine dihydrochloride		≥95.0%	Unkown
HY-144305	KPH2f	Inhibitor	98.05%	Unkown
HY-148682	18β-Glycyrrhetyl-3-O-sulfate	Inhibitor	98.01%	Unkown
HY-136367	Diclofop-methyl		99.95%	Unkown
HY-163431	URAT1 inhibitor 10	Inhibitor	/	Unkown
HY-N12007	OAT1/3-IN-1		/	Unkown
HY-N12008	OAT1/3-IN-2		/	Unkown
HY-N4103A	Δ5-Avenasterol		/	Unkown
HY-RS09731	OAT Human Pre-designed siRNA Set A		/	Unkown
HY-126987	Mesosulfuron-methyl	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	OAT	NCBI
Rattus norvegicus	OAT	NCBI

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