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

Chromosomal Location of Human Ortholog: 16p13.2

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

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

Biological Process: response to nicotine; copulation; response to drug; synaptic transmission; neurotransmitter catabolic process; response to ethanol; behavioral response to cocaine; neurotransmitter secretion; response to hypoxia; locomotory behavior; negative regulation of blood pressure; gamma-aminobutyric acid catabolic process; response to iron ion

Disease: Gaba-transaminase Deficiency