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MT000001

UniProt Annotations

Entry Information

Gene Name	4-aminobutyrate aminotransferase
Protein Entry	GABT_HUMAN
UniProt ID	P80404
Species	Human

Comments

Comment type	Description
Catalytic Activity	4-aminobutanoate + 2-oxoglutarate = succinate semialdehyde + L-glutamate.
Catalytic Activity	(S)-3-amino-2-methylpropanoate + 2- oxoglutarate = 2-methyl-3-oxopropanoate + L-glutamate.
Cofactor	Name=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326;
Disease	GABA transaminase deficiency (GABATD) [MIM:613163]: An enzymatic deficiency resulting in psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. {ECO:0000269\|PubMed:10407778}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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.
Interaction	P46108:CRK; NbExp=1; IntAct=EBI-1753838, EBI-886;
Similarity	Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family. {ECO:0000305}.
Subcellular Location	Mitochondrion matrix.
Subunit	Homodimer; disulfide-linked. {ECO:0000269\|PubMed:15528998}.
Tissue Specificity	Liver > pancreas > brain > kidney > heart > placenta.
Web Resource	Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=ABAT+%40+GABAT";