菜单 基因医生

这个基因编码溶质转运蛋白家族的一个成员膜结合蛋白是清除中枢神经系统突触细胞外兴奋性神经递质谷氨酸的主要转运体。谷氨酸清除是正确激活突触和防止谷氨酸受体过度激活造成神经元损伤的必要条件。这种基因调节不当被认为与一些神经系统疾病有关。另外,该基因的剪接转录变体已经被鉴定。[由RefSeq提供,2017年6月]
This gene encodes a member of a family of solute transporter proteins. The membrane-bound protein is the principal transporter that clears the excitatory neurotransmitter glutamate from the extracellular space at synapses in the central nervous system. Glutamate clearance is necessary for proper synaptic activation and to prevent neuronal damage from excessive activation of glutamate receptors. Improper regulation of this gene is thought to be associated with several neurological disorders. Alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Jun 2017]

基因名:SLC1A2
别名:HBGT,EAAT2,GLT-1,EIEE41
基因ID:6506
Chromosome:
(GRCh37)
11 Start: 35272752 End: 35441610 Strand: 
信号通路:  
SLC1A2 基因突变与药物