Summary
Performance
Immunogen
Application
Background
This gene encodes a member of a member of a high affinity glutamate transporter family. This gene functions in the termination of excitatory neurotransmission in central nervous system. Mutations are associated with episodic ataxia, Type 6. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2014],disease:Defects in SLC1A3 are the cause of episodic ataxia type 6 (EA6) [MIM:612656]. EA6 is characterized by episodic ataxia, seizures, migraine and alternating hemiplegia.,function:Transports L-glutamate and also L- and D-aspartate. Essential for terminating the postsynaptic action of glutamate by rapidly removing released glutamate from the synaptic cleft. Acts as a symport by cotransporting sodium.,PTM:Glycosylated.,similarity:Belongs to the sodium:dicarboxylate (SDF) symporter (TC 2.A.23) family.,tissue specificity:Highly expressed in cerebellum, but also found in frontal cortex, hippocampus and basal ganglia.,
Research Area
