ABAT

4-Aminobutyrate aminotransferase is a is_associated_with::protein that in humans is encoded by the ABAT is_associated_with::gene.

Function
4-Aminobutyrate aminotransferase (ABAT) is responsible for is_associated_with::catabolism of is_associated_with::gamma-aminobutyric acid (GABA), an important, mostly inhibitory is_associated_with::neurotransmitter in the is_associated_with::central nervous system, into is_associated_with::succinic semialdehyde. The active enzyme is a is_associated_with::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 is_associated_with::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, is_associated_with::hypotonia, is_associated_with::hyperreflexia, lethargy, refractory is_associated_with::seizures, and is_associated_with::EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene.