ABAT Products

Description

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]

Bioinformatics

Entrez	18 Human
Uniprot	AAH08990 Human NM_000663 Human NM_020686 Human NP_000654.2 Human NP_001120920 Human P80404 Human
Product By Gene ID	18
Alternate Names	(S)-3-amino-2-methylpropionate transaminase 4-aminobutyrate aminotransferase 4-aminobutyrate aminotransferase, mitochondrial 4-aminobutyrate transaminase EC 2.6.1.19 EC 2.6.1.22 FLJ17813 FLJ30272 G GABA aminotransferase GABA transaminase GABA transferase GABA-AT GABA-T GABATNPD009 Gamma-amino-N-butyrate transaminase hCG1984265 L-AIBAT