GAD1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human GAD1 wild-type allele is located in the vicinity of 2q31.1 and is approximately 48 kb in length. This allele, which encodes glutamate decarboxylase 1 protein, plays a role in the synthesis of the neurotransmitter gamma-aminobutyric acid. Mutation of the gene is associated with developmental and epileptic encephalopathy 89.

**Synonyms:** - CPSQ1 - DEE89 - GAD - GAD67 - Glutamate Decarboxylase 1 (Brain, 67kD) Gene - Glutamate Decarboxylase 1 (Brain, 67kDa) Gene - Glutamate Decarboxylase 1 wt Allele - Glutamate Decarboxylase, Brain, 67-kD Gene - SCP