Function
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.
Biological Context
Subcellular Location: Mitochondrion matrix
Tissue Specificity: Liver > pancreas > brain > kidney > heart > placenta
Disease Association: GABA-transaminase deficiency (GABATD) : An enzymatic deficiency resulting in psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. GABATD inheritance is autosomal recessive. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human 4-aminobutyrate aminotransferase, mitochondrial (ABAT) is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 29-500aa, with N-terminal 10xHis-SUMO-tagged and C-terminal Myc-tagged tag, molecular weight 73.3kDa, purity Greater than 90% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications. Explore more Enzyme proteins →
