GABRA1 wt Allele

Preferred Label : GABRA1 wt Allele;

NCIt synonyms : EIEE19; DEE19; Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha1 wt Allele; EJM5; Gamma-Aminobutyric Acid (GABA) A Receptor, Alpha 1 Gene; ECA4; GABA-A Receptor, Alpha-1 Polypeptide Gene; GABA(A) Receptor, Alpha 1 Gene; Gamma-Aminobutyric Acid Type A Receptor Alpha1 Subunit Gene; EJM;

NCIt definition : Human GABRA1 wild-type allele is located in the vicinity of 5q34 and is approximately 53 kb in length. This allele, which encodes gamma-aminobutyric acid receptor subunit alpha-1 protein, plays a role in binding to gamma-aminobutyric acid and transmembrane calcium transport. Mutation of the gene is associated with developmental and epileptic encephalopathy 19, juvenile myoclonic epilepsy 5 and childhood absence epilepsy type 4.;

NCI Metathesaurus CUI : CL1799307;

GenBank Accession Number : NM_000806;

Details

Origin ID

C190839;

UMLS CUI

C5780971;

OMIM relation
- Gamma-aminobutyric acid receptor, alpha-1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
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]
- Taste Transduction Pathway [NCIt concept]
gene_plays_role_in_process
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Neuronal Transmission [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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