Gene Symbol | SLC1A2 |
Entrez Gene ID | 6506 |
Full Name | solute carrier family 1 member 2 |
Synonyms | EAAT2,EIEE41,GLT-1,HBGT |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Epileptic encephalopathy, early infantile, 41, 617105 (3) |