" /> GABRB3 wt Allele - CISMeF





Preferred Label : GABRB3 wt Allele;

NCIt synonyms : Gamma-Aminobutyric Acid Type A Receptor Beta3 Subunit Gene; Gamma-Aminobutyric Acid A Receptor Beta 3 Gene; GABAA Receptor Beta-3 Subunit Gene; Gamma-Aminobutyric Acid Receptor, Beta-3 Gene; ECA5; Gaba-A Receptor, Beta-3 Polypeptide Gene; Gamma-Aminobutyric Acid Type A Receptor Subunit Beta 3 Gene; GABA(A) Receptor, Beta 3 Gene; DEE43; EIEE43; Gamma-Aminobutyric Acid Type A Receptor Subunit Beta3 wt Allele; Gamma-Aminobutyric Acid (GABA) A Receptor, Beta 3 Gene;

NCIt definition : Human GABRB3 wild-type allele is located in the vicinity of 15q12 and is approximately 396 kb in length. This allele, which encodes gamma-aminobutyric acid receptor subunit beta-3 protein, is involved in neurotransmitter-gated ion transport. Mutations in the gene are associated with developmental and epileptic encephalopathy 43 and susceptibility to childhood absence epilepsy 5.;

GenBank Accession Number : NM_000814;

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29/07/2025


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