Sodium- and chloride-dependent GABA transporter 1 (SLC6A1) (SLC6A1)

Sodium- and chloride-dependent GABA transporter 1 (SLC6A1), also known as GAT-1, is a transmembrane protein responsible for the reuptake of gamma-aminobutyric acid (GABA) from the synaptic cleft into neurons and glia (UniProt P30531). As the primary inhibitory neurotransmitter transporter in the central nervous system, SLC6A1 is crucial for terminating GABAergic signaling and maintaining the excitatory-inhibitory balance in the brain (PubMed: 30103821). Dysregulation or mutations in the SLC6A1 gene are strongly associated with neurodevelopmental disorders, including myoclonic-atonic epilepsy (Doose syndrome), intellectual disability, and autism spectrum disorders (NIH: GeneReviews). Therapeutic strategies targeting SLC6A1 include small molecule inhibitors like tiagabine, which are used as anticonvulsants to enhance GABAergic tone (PubChem CID 60648). Recent drug development efforts are also focusing on gene replacement therapies and protein chaperones to restore function in patients with SLC6A1 haploinsufficiency (PubMed: 33154109). Additionally, SLC6A1 expression levels are being investigated as potential biomarkers for treatment response in various neuropsychiatric conditions.

Other names

GAT1GAT-1GABA transporter 1Solute carrier family 6 member 1

Inhibition of GABA reuptake from the synaptic cleft, thereby increasing the duration and magnitude of GABAergic inhibitory neurotransmission.