Reaction: Defective SLC6A3 does not cotransport DA, Na+ from extracellular region to cytosol
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. Mutations that can cause PKDYS include L368Q, P395L, L224P and R521W (Kurian et al. 2009, Kurian et al. 2011).
Reaction - small molecule participants:
DA [extracellular region]
Na+ [extracellular region]
DA [extracellular region]
Na+ [extracellular region]
Reactome.org reaction link: R-HSA-5660706
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Reaction input - small molecules:
dopaminium(1+)
sodium(1+)
dopaminium(1+)
sodium(1+)
Reaction output - small molecules:
Reactome.org link: R-HSA-5660706