BC008990
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
56,439 Da
NCBI Official Full Name
Homo sapiens 4-aminobutyrate aminotransferase, mRNA
NCBI Official Synonym Full Names
4-aminobutyrate aminotransferase
NCBI Protein Information
4-aminobutyrate aminotransferase, mitochondrial
UniProt Protein Name
4-aminobutyrate aminotransferase, mitochondrial
UniProt Synonym Protein Names
(S)-3-amino-2-methylpropionate transaminase (EC:2.6.1.22); GABA aminotransferase; GABA-AT; Gamma-amino-N-butyrate transaminase; GABA transaminase; GABA-T; L-AIBAT
UniProt Synonym Gene Names
UniProt Entry Name
GABT_HUMAN
NCBI Summary for ABAT
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]
UniProt Comments for ABAT
ABAT: Catalyzes the conversion of gamma-aminobutyrate and L- beta-aminoisobutyrate to succinate semialdehyde and methylmalonate semialdehyde, respectively. Can also convert delta-aminovalerate and beta-alanine. Defects in ABAT are a cause of GABA transaminase deficiency (GABATD). The phenotype of this deficiency includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.
Protein type: EC 2.6.1.19; EC 2.6.1.22; Mitochondrial; Carbohydrate Metabolism - propanoate; Other Amino Acids Metabolism - beta-alanine; Transferase; Amino Acid Metabolism - alanine, aspartate and glutamate; Carbohydrate Metabolism - butanoate; Amino Acid Metabolism - valine, leucine and isoleucine degradation
Chromosomal Location of Human Ortholog: 16p13.2
Cellular Component: 4-aminobutyrate transaminase complex; mitochondrial matrix; mitochondrion
Molecular Function: 4-aminobutyrate transaminase activity; protein homodimerization activity; pyridoxal phosphate binding; succinate-semialdehyde dehydrogenase binding
Biological Process: behavioral response to cocaine; gamma-aminobutyric acid catabolic process
Disease: Gaba-transaminase Deficiency
Research Articles on ABAT
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Pathways associated with ABAT cdna clone
Diseases associated with ABAT cdna clone
Organs/Tissues associated with ABAT cdna clone
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