About   Help   FAQ
Disease Ontology Browser
GABA aminotransferase deficiency (DOID:0060174)
Alliance: disease page
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 Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
10/29/2024
MGI 6.24 		The Jackson Laboratory