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gptkbp:instanceOf
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gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:GABA-T
gptkb:gamma-aminobutyrate_aminotransferase
gptkb:4-aminobutyrate_aminotransferase
|
|
gptkbp:associatedWith
|
gptkb:GABA_metabolism
mitochondrial function
|
|
gptkbp:encodes
|
gptkb:4-aminobutyrate_aminotransferase
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000147852
18
GC18P016073
|
|
gptkbp:enzymeCommissionNumber
|
gptkb:2.6.1.19
|
|
gptkbp:expressedIn
|
gptkb:kidney
brain
liver
|
|
gptkbp:function
|
catalyzes the conversion of gamma-aminobutyric acid (GABA) to succinic semialdehyde
|
|
gptkbp:HGNC_ID
|
HGNC:71
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
ABAT gene
|
|
gptkbp:involvedIn
|
amino acid metabolism
neurotransmitter degradation
|
|
gptkbp:length
|
500 amino acids (canonical isoform)
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_16
16p13.2
|
|
gptkbp:mutationAssociatedWith
|
gptkb:GABA-transaminase_deficiency
|
|
gptkbp:OMIM
|
137150
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Abat
|
|
gptkbp:product
|
gptkb:GABA_transaminase
|
|
gptkbp:RefSeq
|
gptkb:NM_000663
|
|
gptkbp:significance
|
mutations cause neurological disorders
|
|
gptkbp:subcellularLocation
|
mitochondria
|
|
gptkbp:UniProtID
|
P80404
|
|
gptkbp:bfsParent
|
gptkb:GABA_transaminase
|
|
gptkbp:bfsLayer
|
6
|