Aliases for ABAT Gene
External Ids for ABAT Gene
Previous GeneCards Identifiers for ABAT Gene
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]
GeneCards Summary for ABAT Gene
ABAT (4-Aminobutyrate Aminotransferase) is a Protein Coding gene. Diseases associated with ABAT include Gaba-Transaminase Deficiency and Gaba Aminotransferase Deficiency. Among its related pathways are Beta-alanine metabolism (TR) and Neurotransmitter Release Cycle. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and iron-sulfur cluster binding. An important paralog of this gene is ETNPPL.
UniProtKB/Swiss-Prot Summary for ABAT Gene
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.