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Human Disease

GABA aminotransferase deficiency

Term ID
DOID:0060174
Synonyms
  • Gamma-amino butyric acid transaminase deficiency
  • gamma-aminobutyric acid transaminase deficiency
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. https://ghr.nlm.nih.gov/condition/gaba-transaminase-deficiency#synonyms
References
Ontology
Human Disease   ( DOID:0060174 )
Relationships
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Genes Involved
Zebrafish Models