Glutamate Decarboxylase 1

Preferred Label : Glutamate Decarboxylase 1;

NCIt synonyms : EC 4.1.1.15; GAD-67; 67 kDa Glutamic Acid Decarboxylase; GAD1; Glutamate Decarboxylase 67 kDa Isoform; Glutamic Acid Decarboxylase 1;

NCIt related terms : Glutamic Acid Decarboxylase 67; GAD67; Glutamate decarboxylase 67;

NCIt definition : Glutamate decarboxylase 1 (594 aa, 67 kDa) is encoded by the human GAD1 gene. This protein is involved in the conversion of glutamate to gamma-aminobutyric acid.;

Alternative definition : CDISC: An antigen of the 67 kDa isoform of GAD which is encoded by the GAD1 gene. It can be considered as an autoantigen and is commonly associated with the autoimmune disease type 1 diabetes.;

Détails

Origin ID

C185680;

UMLS CUI

C2000778;

Automatic exact mappings (from CISMeF team)
- Glutamate decarboxylase 1 [OMIM gene]
- glutamate decarboxylase 1 [HGNC gene]
- glutamate decarboxylase 1 [ORDO Gene]
- glutamate decarboxylase 1 [MeSH concept]
- glutamate decarboxylase 1 [MeSH Supplementary Concept]
OMIM relation
- Glutamate decarboxylase 1 [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Enzyme [UMLS semantic type]
UMLS correspondences (same concept)
- gad1 protein, human [MeSH concept]
concept_is_in_subset
- CDISC SDTM Binding Agent for Immunogenicity Tests Terminology [NCIt concept]
- CDISC SDTM Terminology [NCIt concept]
- Clinical Data Interchange Standards Consortium Terminology [NCIt concept]
gene_encodes_gene_product
- Enzyme Gene [NCIt concept]
- GAD1 Gene [NCIt concept]
- Lyase Gene [NCIt concept]
gene_product_has_associated_anatomy
- Plasma Membrane [NCIt concept]
gene_product_has_structural_domain_or_motif
- Substrate Interaction Domain [NCIt concept]
gene_product_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_product_malfunction_associated_with_disease
- Hepatoerythropoietic Porphyria [NCIt concept]
gene_product_plays_role_in_biological_process
- Biogenic Amine Metabolic Process [NCIt concept]
- Biosynthetic Process [NCIt concept]
- Neuronal Transmission [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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