NCIt synonyms : Solute Carrier Family 6 (Neurotransmitter Transporter), Member 1 Gene; MAE; GABA Transporter 1 Gene; hGAT-1; GABATR; GAT1; Solute Carrier Family 6 (Neurotransmitter Transporter, GABA), Member 1 Gene; GABATHG; Solute Carrier Family 6 Member 1 wt Allele; GABT1; GABA Transporter Gene;
NCIt definition : Human SLC6A1 wild-type allele is located in the vicinity of 3p25.3 and is approximately
47 kb in length. This allele, which encodes sodium- and chloride-dependent GABA transporter
1 protein, plays a role in the transport of gamma-aminobutyric acid (GABA), sodium
cations and chloride anions. Mutations in the gene are associated with myoclonic-atonic
epilepsy.;
OMIM relation
