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 Pathways of neurodegeneration - multiple diseases and Alpha-synuclein signaling. 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 (PubMed:1406597, PubMed:8302271, PubMed:15505207). Terminates the action of dopamine by its high affinity sodium-dependent reuptake into presynaptic terminals (By similarity). Regulator of light-dependent retinal hyaloid vessel regression, downstream of OPN5 signaling (By similarity).
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.