Defective neurotransmitter clearance by SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)

The human gene SLC6A3 encodes the sodium-dependent dopamine transporter DAT which mediates the Na-dependent re-uptake of dopamine (DA) from the synaptic cleft back into cells, thereby terminating the action of DA. Defects in SLC6A3 can cause Parkinsonism-dystonia infantile (PKDYS; MIM:613135), a neurodegenerative disorder characterised by infantile onset of parkinsonism and dystonia.

Summary from Reactome (R-HSA-5619081), read 2026-09-23.