ABAT - 4-aminobutyrate aminotransferase Gene

Homo sapiens

Also known as GABAT; NPD009; GABA-AT

Gene ID: 18 | Gene type: protein coding

About ABAT

Cytogenetic location: 16p13.2 Genomic coordinates (GRCh38): 16:8,674,617-8,784,570 (from NCBI)

This gene has 16 transcripts (splice variants), 231 orthologues, 4 paralogues and is associated with 3 phenotypes. Biased expression in liver (RPKM 93.2), kidney (RPKM 61.6) and 11 other tissues.

Summary

4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active Enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]

ABAT Products(20)

mRNA	Protein	Name
NM_000663.5	NP_000654.2	4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor
NM_001127448.2	NP_001120920.1	4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor
NM_001386600.1	NP_001373529.1	4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor
NM_001386601.1	NP_001373530.1	4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor
NM_001386602.1	NP_001373531.1	4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor
NM_001386603.1	NP_001373532.1	4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor
NM_001386604.1	NP_001373533.1	4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor
NM_001386605.1	NP_001373534.1	4-aminobutyrate aminotransferase, mitochondrial isoform 2 precursor
NM_001386606.1	NP_001373535.1	4-aminobutyrate aminotransferase, mitochondrial isoform 3 precursor
NM_001386607.1	NP_001373536.1	4-aminobutyrate aminotransferase, mitochondrial isoform 3 precursor
NM_001386608.1	NP_001373537.1	4-aminobutyrate aminotransferase, mitochondrial isoform 4 precursor
NM_001386609.1	NP_001373538.1	4-aminobutyrate aminotransferase, mitochondrial isoform 5 precursor
NM_001386610.1	NP_001373539.1	4-aminobutyrate aminotransferase, mitochondrial isoform 6 precursor
NM_001386611.1	NP_001373540.1	4-aminobutyrate aminotransferase, mitochondrial isoform 7
NM_001386612.1	NP_001373541.1	4-aminobutyrate aminotransferase, mitochondrial isoform 8
NM_001386613.1	NP_001373542.1	4-aminobutyrate aminotransferase, mitochondrial isoform 8
NM_001386614.1	NP_001373543.1	4-aminobutyrate aminotransferase, mitochondrial isoform 9 precursor
NM_001386615.1	NP_001373544.1	4-aminobutyrate aminotransferase, mitochondrial isoform 10 precursor
NM_001386616.1	NP_001373545.1	4-aminobutyrate aminotransferase, mitochondrial isoform 11 precursor
NM_020686.6	NP_065737.2	4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor

ABAT Protein Structure

Aminotran_3

0
100
200
300
400
500 a.a.

Protein Preferred Names

Protein Names

4-aminobutyrate aminotransferase, mitochondrial

(S)-3-amino-2-methylpropionate transaminase

Recombinant ABAT Proteins

Cat. No.	Product Name	Accession	Purity
HY-P72068	ABAT Protein, Human (His, SUMO, Myc)	P80404 (S29-K500)	≥95%

Related Diseases

Diseases

Alias

Gaba Aminotransferase Deficiency

Gamma-Aminobutyric Acid Transaminase Deficiency	Gamma Aminobutyric Acid Transaminase Deficiency
Gaba Transaminase Deficiency	Gamma-Amino Butyric Acid Transaminase Deficiency
4 Alpha Aminobutyrate Transaminase Deficiency	Abat
Gabat	Gamma Aminobutyrate Transaminase Deficiency

Gaba-Transaminase Deficiency

Gaba Transaminase Deficiency	Gamma Aminobutyric Acid Transaminase Deficiency
4 Alpha Aminobutyrate Transaminase Deficiency	Abat Deficiency
Gaba Transferase Deficiency	Gaba-T Deficiency
Gamma Aminobutyrate Transaminase Deficiency	Gamma-Aminobutyrate Transaminase Deficiency
Gamma-Aminobutyric Acid Transaminase Deficiency	GABATD

Homocarnosinosis

Homocarnosinase Deficiency	Hereditary Spastic Paraplegia Mental Impairment And Thin Corpus Callosum
Spastic Paraplegia 11	Autosomal Recessive Spastic Paraplegia Type 11
Hereditary Spastic Paraplegia 11	Nakamura Osame Syndrome
Spg11	Spastic Paraplegia - Intellectual Deficit - Thin Corpus Callosum
Serum Carnosinase Deficiency

Succinic Semialdehyde Dehydrogenase Deficiency

4-Hydroxybutyric Aciduria	Ssadh Deficiency
Gamma-Hydroxybutyric Aciduria	Gaba Metabolic Defect
SSADHD	Ssadh
Succinate-Semialdehyde Dehydrogenase Deficiency	Gamma-Hydroxybutyricaciduria
4-Hydroxybutyricaciduria	Gamma-Hydroxybutyric Acidemia
Succinate Semialdehyde Dehydrogenase Deficiency

Glycine Encephalopathy

Non-Ketotic Hyperglycinemia	Nonketotic Hyperglycinemia
NKH	GCE
Hyperglycinemia, Nonketotic	Hyperglycinemia Nonketotic
Infantile Glycine Encephalopathy	Encephalopathy, Glycine
Glycine Synthase Deficiency	Nka
Neonatal Glycine Encephalopathy	Classic Glycine Encephalopathy
Neonatal Nkh	Neonatal Non-Ketotic Hyperglycinemia
Infantile Nkh	Infantile Non-Ketotic Hyperglycinemia
Non-Ketotic Hyperglycinaemia	Glycine Cleavage Deficiency
Nonketotic Hyperglycinaemia

Stiff-Person Syndrome

SPS	Stiff-Man Syndrome
Stiff Man Syndrome	Stiff Person Syndrome
Moersch-Woltman Syndrome	Sms
Stiff-Trunk Syndrome	Morsch Woltman Syndrome
Stiff Person Syndrome And Related Disorders	Stiff Person Spectrum Disorder
Classic Stiff Person Syndrome	Classic Sps
Focal Stiff Limb Syndrome	Focal Stiff-Person Syndrome
Stiff Leg Syndrome	Progressive Encephalomyelitis With Rigidity

Panic Disorder

Panic Anxiety Syndrome	Panic
Panic Disorder 1	Episodic Paroxysmal Anxiety Disorder

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Childhood Absence Epilepsy

Pyknolepsy	Petit Mal Epilepsy
Absence Seizures	Absence Seizure
Petit Mal Seizure	Absence Epilepsy, Childhood
Pykno-Epilepsy	Epilepsy, Absence
Absence Epilepsy	Pycnolepsy

Gamma-Amino Butyric Acid Metabolism Disorder

Disorder Of Gamma-Aminobutyric Acid Metabolism	Disorder Of Gaba Metabolism
Disorders Of Gaba - [Gamma Aminobutyric Acid] Metabolism

Hypotonia

Dihydropyrimidine Dehydrogenase Deficiency

Dpd Deficiency	Familial Pyrimidinemia
Hereditary Thymine-Uraciluria	Dihydropyrimidinuria
Dpyd Deficiency	Thymine-Uraciluria, Hereditary
Pyrimidinemia, Familial	5-Fluorouracil Toxicity
Dihydrouracil Dehydrogenase Deficiency	Familial Pyrimidinaemia
Thymine-Uracilurea	Familial Pyrimidemia
Pyrimidinemia Familial	DPYDD

Developmental And Epileptic Encephalopathy 13

Epileptic Encephalopathy, Early Infantile, 13	DEE13
Eiee13	Developmental And Epileptic Encephalopathy, 13
Early Infantile Epileptic Encephalopathy 13	Scn8a Encephalopathy
Early Infantile Epileptic Encephalopathy-13	Scn8a Epilepsy
Encephalopathy, Developmental And Epileptic, Type 13

Epilepsy, Idiopathic Generalized

Idiopathic Generalized Epilepsy	Generalised Epilepsy
Epilepsy, Generalized	EIG
Ige	Epilepsy, Idiopathic Generalized, Susceptibility To, 1
Epilepsy, Idiopathic Generalized 1	Epilepsy, Idiopathic Generalized, Susceptibility To
Epilepsy, Idiopathic, Generalized	Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1

Asperger Syndrome

Asperger Disorder

Asperger Syndrome, Susceptibility To

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 1

West Syndrome

Infantile Spasms	Infantile Spasms Syndrome
Infantile Spasm	X-Linked Infantile Spasm Syndrome
X-Linked Infantile Spasms	Epileptic Encephalopathy, Early Infantile, 1
Is	Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg
West'S Syndrome	Spasms, Infantile
Is -[Infantile Spasm]	Salaam Spasm
Salaam Tic

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00036	ABAT Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ABAT	VGNC	VGNC:99480
Rattus norvegicus	ABAT	RGD	RGD:620948
Canis familiaris	ABAT	VGNC	VGNC:37421
Felis catus	ABAT	VGNC	VGNC:59460
Bos taurus	ABAT	VGNC	VGNC:25454
Mus musculus	ABAT	MGD	MGI:2443582
Others	ABAT	NCBI