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GENE - TERM ANNOTATION REPORT

RGD ID: 1309748
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Hapstr1
Name: HUWE1 associated protein modifying stress responses
Acc ID: DOID:0060174
Term: GABA aminotransferase 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. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/gaba-transaminase-deficiency#synonyms "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Hapstr1 ISOHAPSTR1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiencyPMID:28492532
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