OBO ID: DOID:0060174
Term Name: GABA aminotransferase deficiency Search Ontology:
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
is a type of:
OTHER GABA aminotransferase deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ABAT GABA-transaminase deficiency 613163
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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