GABRB3 wt Allele

**Semantic type:** Gene or Genome

**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.

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