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Echinobase
Summary Literature (0)
DOID:0060174 - GABA aminotransferase deficiency

Disease Ontology 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.

Synonyms: Gamma-amino butyric acid transaminase deficiency, gamma-aminobutyric acid transaminase deficiency,

Echinobase Genes : abat


OMIM:
MIM:613163 - gaba-transaminase deficiency

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): gamma-amino butyric acid metabolism disorder (is_a)