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Disease Ontology Browser
GABA aminotransferase deficiency (DOID:0060174)
Synonyms: Gamma-amino butyric acid transaminase deficiency; gamma-aminobutyric acid transaminase deficiency
Alt IDs: OMIM:613163
Definition: A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/14/2017
MGI 6.08
The Jackson Laboratory