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 Member 3) is a Protein Coding gene. Diseases associated with SLC6A3 include Parkinsonism-Dystonia, Infantile, 1 and Tobacco Addiction. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and protein N-terminus binding. An important paralog of this gene is SLC6A2.
UniProtKB/Swiss-Prot Summary 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.