2024年12月25日 · SLC6A3 (Solute Carrier Family 6 Member 3) is a Protein Coding gene. Diseases associated with SLC6A3 include Parkinsonism-Dystonia 1, Infantile-Onset and Tobacco Addiction . Among its related pathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Transmission across Chemical Synapses .

The dopamine transporter (DAT, also sodium-dependent dopamine transporter) is a membrane-spanning protein coded for in humans by the SLC6A3 gene (also known as DAT1), that pumps the neurotransmitter dopamine out of the synaptic cleft back into cytosol.

2021年10月14日 · The human dopamine transporter gene SLC6A3 has been consistently implicated in several neuropsychiatric diseases but the disease mechanism remains elusive.

溶质载体家族 6 成员 3： 该基因编码多巴胺转运蛋白，它是钠和氯依赖性神经递质转运蛋白家族的成员。该基因的 3' UTR 包含一个 40 bp 的串联重复序列，称为可变数目串联重复序列或 VNTR，可以存在 3 到 11 个拷贝。重复次数的变化与特发性癫痫、注意力缺陷多动障碍、对酒精和可卡因的依赖、对 ...

The SLC6A3 gene provides instructions for making a protein called the dopamine transporter or DAT. This protein is embedded in the membrane of certain nerve cells (neurons) in the brain, where it transports a molecule called dopamine into the cell.

2013年9月24日 · In humans, the 9R allele of the 3′UTR polymorphism of SLC6A3 regulates dopamine activity in the striatal brain regions independent of the presence of neuropsychiatric illness.

slc6a3 多巴胺转运体主要负责多巴胺的转运和再摄取，从而精确调控突触间隙中多巴胺的浓度，进而影响神经信号的传递。 此外，SLC6A3基因的3’UTR包含一个可变数目串联重复序列，其重复次数的变化与多种神经和精神疾病的发生风险相关。

SLC6A3 (a dopamine transporter gene, formerly known as DAT1) polymorphism was found to be significantly associated with Attention-Deficit Hyperactivity Disorder. findings support that gain of disruptive functions due to missense mutations in SLC6A3 may be key to understanding how dopaminergic dyshomeostasis arises in heterozygous carriers

The human dopamine transporter gene SLC6A3 has been consistently implicated in several neuropsychiatric diseases but the disease mechanism remains elusive. In this risk synthesis, we have concluded that SLC6A3 represents an increasingly recognized risk with a growing number of familial mutants assoc …

2021年6月2日 · 随后研究团队通过慢病毒载体递送slc6a3基因， 发现通过基因治疗挽救了 多巴胺转运蛋白 （dat） 功能，成功地防止了多巴胺能神经退化。 总的来说，该研究阐明了婴儿帕金森病的发病机制，开发了针对该疾病靶点的基因疗法，未来将可能应用于治疗 多巴胺转运 ...