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The GABA transporter 1, encoded by the SLC6A1 gene, is responsible for the sodium- and chloride-dependent reuptake of γ-aminobutyric acid (GABA) from the synaptic cleft into neurons and astrocytes. This process is crucial for terminating GABAergic neurotransmission and maintaining the balance between excitation and inhibition in neural circuits. Mutations in SLC6A1 can lead to neurodevelopmental disorders, including epilepsy and intellectual disability, due to impaired GABA transport and disrupted neurotransmitter homeostasis.
The primary mechanism for drugs targeting SLC6A1 would involve modulation of GABA reuptake, potentially through pharmacochaperoning to correct misfolded proteins.
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