ABAT Antikörper

In the central nervous system GABA (gamma-aminobutyric acid) functions as the main inhibitory transmitter by increasing a Cl- conductance that inhibits neuronal firing. ABAT (4-aminobutyrate aminotransferase), also known as GABAT (GABA aminotransferase), L-AIBAT or (S)-3-amino-2-methylpropionate transaminase, is a 500 amino acid mitochondrial matrix protein belonging to the class-III pyridoxal-phosphate-dependent aminotransferase family, which catabolizes GABA into succinic semialdehyde. Existing as a homodimer, ABAT binds pyridoxal phosphate as a cofactor and is expressed in liver, brain, pancreas, kidney, placenta and heart. The gene encoding ABAT maps to human chromosome 16p13.2, and defects in ABAT are the cause of GABA-AT deficiency, which is characterized by hypotonia, hyperreflexia, psychomotor retardation, lethargy, EEG abnormalities and refractory seizures.