SLC6A3

SLC6A3 is a dopamine transporter which is a member of the sodium- and chloride-dependent neurotransmitter transporter family. The 3' UTR of this gene contains a 40 bp tandem repeat, referred to as a variable number tandem repeat or VNTR, which can be present in 3 to 11 copies. Variation in the number of repeats is associated with idiopathic epilepsy, attention-deficit hyperactivity disorder, dependence on alcohol and cocaine, susceptibility to Parkinson disease and protection against nicotine dependence.

Solute Carrier Family 6 Member 3

Mediates sodium- and chloride-dependent transport of dopamine (PubMed:1406597, PubMed:8302271, PubMed:10375632, PubMed:11093780, PubMed:15505207, PubMed:19478460).
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).

Biological Process adenohypophysis developmentIEA:Ensembl
Biological Process agingIEA:Ensembl
Biological Process dopamine biosynthetic processIEA:Ensembl
Biological Process dopamine catabolic processIEA:Ensembl
Biological Process dopamine transportManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process dopamine uptakeManual Assertion Based On ExperimentIDA:ParkinsonsUK-UCL
Biological Process dopamine uptake involved in synaptic transmissionManual Assertion Based On ExperimentIBA:GO_Central
Biological Process hyaloid vascular plexus regressionISS:UniProtKB
Biological Process lactationIEA:Ensembl
Biological Process locomotory behaviorIEA:Ensembl
Biological Process monoamine transportManual Assertion Based On ExperimentIDA:MGI
Biological Process neurotransmitter transportISS:ARUK-UCL
Biological Process norepinephrine transportManual Assertion Based On ExperimentIBA:GO_Central
Biological Process positive regulation of multicellular organism growthIEA:Ensembl
Biological Process prepulse inhibitionIEA:Ensembl
Biological Process regulation of dopamine metabolic processIEA:Ensembl
Biological Process response to cAMPIEA:Ensembl
Biological Process response to cocaineIEA:Ensembl
Biological Process response to ethanolIEA:Ensembl
Biological Process response to iron ionIEA:Ensembl
Biological Process response to nicotineIEA:Ensembl
Biological Process response to xenobiotic stimulusIEA:Ensembl
Biological Process sensory perception of smellIEA:Ensembl
Biological Process sodium ion transmembrane transportManual Assertion Based On ExperimentIBA:GO_Central

Cell membrane
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).

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.