该基因编码多巴胺转运体,多巴胺转运体是钠和氯依赖性神经递质转运体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,它可以存在于3到11个拷贝中重复次数的变化与特发性癫痫、注意缺陷多动障碍、对酒精和可卡因的依赖、对帕金森病的易感性和对尼古丁依赖的保护有关
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]
基因名: | SLC6A3 |
别名: | DAT,DAT1,PKDYS,PKDYS1 |
基因ID: | 6531 |
Chromosome: (GRCh37) | 5 Start: 1392905 End: 1445543 Strand: |
信号通路: |