ABAT
Function
Catalyzes the conversion of gamma-aminobutyrate and L-beta-aminoisobutyrate to succinate semialdehyde and methylmalonate semialdehyde, respectively (PubMed:10407778, PubMed:15528998). Can also convert delta-aminovalerate and beta-alanine (By similarity).
Involvement in disease
GABA-transaminase deficiency
GABATD
An enzymatic deficiency resulting in psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. GABATD inheritance is autosomal recessive.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.
Tissue Specificity
Liver > pancreas > brain > kidney > heart > placenta.
Cellular localization
- Mitochondrion matrix
Alternative names
GABAT, ABAT, (S)-3-amino-2-methylpropionate transaminase, GABA aminotransferase, Gamma-amino-N-butyrate transaminase, L-AIBAT, GABA-AT, GABA transaminase, GABA-T