Aliases for SLC6A5 Gene
External Ids for SLC6A5 Gene
Previous HGNC Symbols for SLC6A5 Gene
Previous GeneCards Identifiers for SLC6A5 Gene
This gene encodes a sodium- and chloride-dependent glycine neurotransmitter transporter. This integral membrane glycoprotein is responsible for the clearance of extracellular glycine during glycine-mediated neurotransmission. This protein is found in glycinergic axons and maintains a high presynaptic pool of neurotransmitter at glycinergic synapses. Mutations in this gene cause hyperekplexia; a heterogenous neurological disorder characterized by exaggerated startle responses and neonatal apnea. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
GeneCards Summary for SLC6A5 Gene
SLC6A5 (Solute Carrier Family 6 Member 5) is a Protein Coding gene. Diseases associated with SLC6A5 include Hyperekplexia 3 and Hyperekplexia. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and NRF2 pathway. Gene Ontology (GO) annotations related to this gene include neurotransmitter:sodium symporter activity and glycine:sodium symporter activity. An important paralog of this gene is SLC6A14.
UniProtKB/Swiss-Prot for SLC6A5 Gene
Terminates the action of glycine by its high affinity sodium-dependent reuptake into presynaptic terminals. May be responsible for the termination of neurotransmission at strychnine-sensitive glycinergic synapses.