GABRB3 Gene - CISMeF

Preferred Label : GABRB3 Gene;

NCIt synonyms : Gamma-Aminobutyric Acid Type A Receptor Subunit Beta3 Gene; GABRB3;

NCIt definition : This gene plays a role in gamma-aminobutyric acid-gated transport of chloride ions.;

Détails

Origin ID

C215229;

HGNC gene
- gamma-aminobutyric acid type A receptor subunit beta3 [HGNC gene]
OMIM relation
- Gamma-aminobutyric acid receptor, beta-3 [OMIM Phenotype]
gene_encodes_gene_product
- Gamma-Aminobutyric Acid Receptor Subunit Beta-3 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- Developmental and Epileptic Encephalopathy 43 [NCIt concept]
gene_plays_role_in_process
- Chloride Channel Binding [NCIt concept]
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Neuronal Transmission [NCIt concept]
- Receptor Signaling [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]
genetic_biomarker_related_to
- Childhood Absence Epilepsy [NCIt concept]

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