功能Amine transporter. Terminates the action of dopamine by its high affinity sodium-dependent reuptake into presynaptic terminals.
疾病相关Defects in SLC6A3 are the cause of dystonia-parkinsonism infantile (DYTPRI) [MIM:613135]. It is a neurodegenerative disorder characterized by infantile onset of parkinsonism and dystonia. Other neurologic features include global developmental delay, bradikinesia and pyramidal tract signs.
序列相似性Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A3 subfamily.