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 Signaling by GPCR and Signaling by Rho GTPases. GO annotations related to this gene include neurotransmitter:sodium symporter activity and glycine:sodium symporter activity. An important paralog of this gene is SLC6A4.
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.