ABAT - 4-aminobutyrate aminotransferase Gene

Also Known as GABAT; NPD009; GABA-AT

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 18

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables 4-aminobutyrate:2-oxoglutarate transaminase activity	IDA IDA: Inferred from direct assay	10407778	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	15528998	GOA
enables pyridoxal phosphate binding	IDA IDA: Inferred from direct assay	15650327	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in gamma-aminobutyric acid metabolic process	IDA IDA: Inferred from direct assay	15528998	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of 4-aminobutyrate transaminase complex	IDA IDA: Inferred from direct assay	15528998	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

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)	≥ 90%, as determined by reducing SDS-PAGE.

ABAT Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82219	ABAT Antibody (YA1964)	WB, IP	Rat
HY-P82219A	ABAT Antibody (YA1964)(PBS only)	WB, IP	Rat

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00036	ABAT Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18027	Abat Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24500	Abat Rat Pre-designed siRNA Set A	Pre-designed Set	/	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