Sodium- and chloride-dependent GABA transporter 1

SLC6A1 encodes a sodium- and chloride-dependent GABA transporter (GAT-1) that mediates the reuptake of gamma-aminobutyric acid from the synapse, a critical inhibitory neurotransmitter in the central nervous system (UniProt: P30531). The transporter can also function bidirectionally to release GABA, with transport direction determined by membrane potential and intracellular and extracellular ion and GABA concentrations. Secondary transport of hypotaurine has been documented but occurs at substantially lower efficiency.

SLC6A1 is associated with myoclonic-atonic epilepsy (MAE), a form of early-childhood epilepsy characterized by myoclonic-atonic and absence seizures accompanied by developmental delay and intellectual disability (UniProt: P30531). The protein functions as a crucial regulator of GABAergic neurotransmission, making it essential for normal neuronal inhibitory signaling.

SLC6A1 is classified as a Category 1 (high confidence) autism spectrum disorder risk gene with syndromic features (SFARI Cat 1, syndromic). This curated association reflects evidence linking SLC6A1 variants to neurodevelopmental phenotypes overlapping with autism, particularly in the context of seizure disorders and developmental abnormalities.