GAD1 wt Allele

Preferred Label : GAD1 wt Allele;

NCIt synonyms : Glutamate Decarboxylase 1 (Brain, 67kDa) Gene; Glutamate Decarboxylase 1 (Brain, 67kD) Gene; Glutamate Decarboxylase 1 wt Allele; Glutamate Decarboxylase, Brain, 67-kD Gene; SCP; DEE89; CPSQ1; GAD; GAD67;

NCIt definition : Human GAD1 wild-type allele is located in the vicinity of 2q31.1 and is approximately 48 kb in length. This allele, which encodes glutamate decarboxylase 1 protein, plays a role in the synthesis of the neurotransmitter gamma-aminobutyric acid. Mutation of the gene is associated with developmental and epileptic encephalopathy 89.;

NCI Metathesaurus CUI : CL1773848;

GenBank Accession Number : NM_000817;

Details

Origin ID

C185678;

UMLS CUI

C5575531;

Automatic exact mappings (from CISMeF team)
- Generalised anxiety disorder [ICD-11 Category]
- Glutamate decarboxylase 1 [OMIM gene]
- Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities [OMIM Phenotype]
- Urocortin III [OMIM gene]
- developmental and epileptic encephalopathy 89 [DO Concept]
- single cell protein [IUPAC Term]
OMIM relation
- Glutamate decarboxylase 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 2q31.1 [NCIt concept]
gene_is_element_in_pathway
- Alanine, Aspartate and Glutamate Metabolism Pathway [NCIt concept]
- Beta-Alanine Metabolism Pathway [NCIt concept]
- Butanoate Metabolism Pathway [NCIt concept]
- Fc-Epsilon Receptor I Signaling Pathway PID [NCIt concept]
- Taurine and Hypotaurine Metabolism Pathway [NCIt concept]
- Type I Diabetes Mellitus Pathway [NCIt concept]
gene_plays_role_in_process
- Biogenic Amine Metabolic Process [NCIt concept]
- Biosynthetic Process [NCIt concept]
- Neuronal Transmission [NCIt concept]

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