4-Aminobutyrate Aminotransferase (ABAT) Antibody – Rabbit Polyclonal

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: 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: Carbohydrate Metabolism - butanoate; Carbohydrate Metabolism - propanoate; Other Amino Acids Metabolism - beta-alanine; EC 2.6.1.22; EC 2.6.1.19; Amino Acid Metabolism - valine, leucine and isoleucine degradation; Amino Acid Metabolism - alanine, aspartate and glutamate; Mitochondrial; Transferase

Chromosomal Location of Human Ortholog: 16p13.2

Cellular Component: 4-aminobutyrate transaminase complex; mitochondrial matrix; mitochondrion; neuron projection

Molecular Function: (S)-3-amino-2-methylpropionate transaminase activity; 4-aminobutyrate transaminase activity; iron-sulfur cluster binding; metal ion binding; protein homodimerization activity; pyridoxal phosphate binding; succinate-semialdehyde dehydrogenase binding

Biological Process: aging; behavioral response to cocaine; cerebellum development; copulation; gamma-aminobutyric acid biosynthetic process; gamma-aminobutyric acid catabolic process; locomotory behavior; negative regulation of blood pressure; negative regulation of dopamine secretion; negative regulation of gamma-aminobutyric acid secretion; neurotransmitter catabolic process; neurotransmitter secretion; positive regulation of dopamine metabolic process; positive regulation of heat generation; positive regulation of insulin secretion; response to drug; response to ethanol; response to hypoxia; response to iron ion; response to nicotine; synaptic transmission

Disease: Gaba-transaminase Deficiency