SLC6A3

Mediates sodium- and chloride-dependent transport of dopamine (PubMed:10375632, PubMed:11093780, PubMed:1406597, PubMed:15505207, PubMed:19478460, PubMed:8302271). Also mediates sodium- and chloride-dependent transport of norepinephrine (also known as noradrenaline) (By similarity). Regulator of light-dependent retinal hyaloid vessel regression, downstream of OPN5 signaling (By similarity).

Parkinsonism-dystonia 1, infantile-onset

PKDYS1

An autosomal recessive neurodegenerative disorder characterized by infantile onset of parkinsonism and dystonia. Other neurologic features include global developmental delay, bradykinesia and pyramidal tract signs.

None

The disease is caused by variants affecting the gene represented in this entry.

Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A3 subfamily.

Highly expressed in substantia nigra (PubMed:7637582). Expressed in axonal varicosities in dopaminergic nerve terminals (at protein level) (PubMed:17296554). Expressed in the striatum (at protein level) (PubMed:17296554).

• Cell membrane
• Multi-pass membrane protein
• Cell projection
• Neuron projection
• Cell projection
• Axon
• Localizes to neurite tips in neuronal cells (By similarity). Colocalizes with SEPTIN4 at axon terminals, especially at the varicosities (By similarity).

DAT1, SLC6A3, Sodium-dependent dopamine transporter, DA transporter, DAT, Solute carrier family 6 member 3

• entrezGene:6531
• omim:126455
• swissprot:Q01959

Proteins

Immunology & Infectious Disease

68495Da