GABRG2 wt Allele

Preferred Label : GABRG2 wt Allele;

NCIt synonyms : GEFSP3; ECA2; FEB8; GABA(A) Receptor, Gamma 2 Gene; Gamma-Aminobutyric Acid Receptor, Gamma-2 Gene; EIEE74; DEE74; Gamma-Aminobutyric Acid (GABA) A Receptor, Gamma 2 Gene; Gamma-Aminobutyric Acid Type A Receptor Subunit Gamma2 wt Allele; GABA-A Receptor, Gamma-2 Polypeptide Gene; Gamma-Aminobutyric Acid Type A Receptor Gamma2 Subunit Gene; CAE2;

NCIt definition : Human GABRG2 wild-type allele is located 5q34 and is approximately 163 kb in length. This allele, which encodes gamma-aminobutyric acid receptor subunit gamma-2 protein, plays a role in gamma-aminobutyric acid-dependent chloride ion transport. Mutations in the gene are associated with developmental and epileptic encephalopathy 74, generalized epilepsy with febrile seizures plus 3 and familial febrile seizures 8.;

GenBank Accession Number : NM_000816;

Détails

Origin ID

C216205;

OMIM relation
- Gamma-aminobutyric acid receptor, gamma-2 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 5q34 [NCIt concept]
gene_is_element_in_pathway
- Neuroactive Ligand-Receptor Signaling Pathway [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]

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