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MGP000006

UniProt Annotations

Entry Information
Gene Name4-aminobutyrate aminotransferase
Protein EntryGABT_HUMAN
UniProt IDP80404
SpeciesHuman
Comments
Comment typeDescription
Catalytic Activity4-aminobutanoate + 2-oxoglutarate = succinate semialdehyde + L-glutamate.
Catalytic Activity(S)-3-amino-2-methylpropanoate + 2- oxoglutarate = 2-methyl-3-oxopropanoate + L-glutamate.
CofactorName=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326;
DiseaseGABA 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.
FunctionCatalyzes the conversion of gamma-aminobutyrate and L- beta-aminoisobutyrate to succinate semialdehyde and methylmalonate semialdehyde, respectively. Can also convert delta-aminovalerate and beta-alanine.
InteractionP46108:CRK; NbExp=1; IntAct=EBI-1753838, EBI-886;
SimilarityBelongs to the class-III pyridoxal-phosphate-dependent aminotransferase family. {ECO:0000305}.
Subcellular LocationMitochondrion matrix.
SubunitHomodimer; disulfide-linked. {ECO:0000269|PubMed:15528998}.
Tissue SpecificityLiver > pancreas > brain > kidney > heart > placenta.
Web ResourceName=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";
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