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4-aminobutyrate aminotransferase, mitochondrial; gamma-amino-N-butyrate transaminase; GABA transaminase; GABA-T; GABA aminotransferase; GABA-AT; L-AIBAT; (S)-3-amino-2-methylpropionate transaminase (ABAT, GABAT)
Function:
- catalyzes conversion of:
a) gamma-aminobutyrate to succinate semialdehyde &
b) L-beta-aminoisobutyrate to methylmalonatesemialdehyde
- can also convert delta-aminovalerate & beta-alanine
4-aminobutanoate + 2-oxoglutarate
succinate semialdehyde + L-glutamate
(S)-3-amino-2-methylpropanoate + 2-oxoglutarate
2-methyl-3-oxopropanoate + L-glutamate
Cofactor: pyridoxal phosphate
Structure:
- homodimer (putative)
- belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family
Compartment: mitochondrial matrix
Expression:
- liver > pancreas > brain > kidney > heart > placenta
Pathology:
- defects in ABAT are a cause of GABA-AT deficiency
General
aminotransferase
mitochondrial protein
Properties
SIZE: entity length = 500 aa
MW = 56 kD
COMPARTMENT: mitochondrial matrix
MOTIF: cofactor-binding site [357-357]
FOR-BINDING-OF: pyridoxal phosphate
Database Correlations
OMIM 137150
MORBIDMAP 137150
UniProt P80404
Pfam PF00202
Entrez Gene 18
KEGG correlations
ENZYME correlations
References
- UniProt :accession P80404
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=ABAT
- SHMPD; The Singapore human mutation and polymorphism database
http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=ABAT+%40+GABAT