Aliases for SLC6A3 Gene
External Ids for SLC6A3 Gene
Previous HGNC Symbols for SLC6A3 Gene
Previous GeneCards Identifiers for SLC6A3 Gene
This gene encodes 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.[provided by RefSeq, Nov 2009]
GeneCards Summary for SLC6A3 Gene
SLC6A3 (Solute Carrier Family 6 (Neurotransmitter Transporter), Member 3) is a Protein Coding gene. Diseases associated with SLC6A3 include parkinsonism-dystonia, infantile and nicotine dependence, protection against. Among its related pathways are Alpha-synuclein signaling and RNA Polymerase I Promoter Opening. GO annotations related to this gene include receptor binding and protein N-terminus binding. An important paralog of this gene is SLC6A4.
UniProtKB/Swiss-Prot for SLC6A3 Gene
Amine transporter. Terminates the action of dopamine by its high affinity sodium-dependent reuptake into presynaptic terminals.
Dopamine transporters (DAT) are sodium- and chloride-dependent members of the solute carrier family 6 (SLC6) widely distributed throughout the brain in areas of dopaminergic activity, including the striatum and substantia nigra. They provide rapid clearance of dopamine, adrenalin and noradrenalin from the synaptic cleft, terminating the neurotransmitter signal. Dopamine transporters can also mediate an outward efflux and it has been suggested that inward and outward transport are independently regulated. Structural motifs include 12-TM domains, extracellular loops, cytoplasmic C- and N-termini and putative phosphorylation sites. There is evidence to support the role of dopamine transporters in attention deficit disorder, bipolar disorder, clinical depression and alcoholism.