GABRA1 wt Allele

**Semantic type:** Gene or Genome

**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.

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