Dopamine Transporter, C-Terminus, Human (SLC6A3) Antibody – Rabbit Polyclonal

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]

Function: Amine transporter. Terminates the action of dopamine by its high affinity sodium-dependent reuptake into presynaptic terminals.

Subunit structure: Homooligomer; disulfide-linked. Interacts with PRKCABP and TGFB1I1. Interacts (via N-terminus) with SYNGR3 (via N-terminus)

By similarity. Interacts with SLC18A2

By similarity. Ref.13 Ref.14 Ref.15

Subcellular location: Membrane; Multi-pass membrane protein.

Involvement in disease: Parkinsonism-dystonia infantile (PKDYS) [MIM:613135]: A neurodegenerative disorder characterized by infantile onset of parkinsonism and dystonia. Other neurologic features include global developmental delay, bradykinesia and pyramidal tract signs.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.19

Miscellaneous: This protein is the target of psychomotor stimulants such as amphetamines or cocaine.

Sequence similarities: Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A3 subfamily. [View classification]