Synonyms: Glycine transporter,Glycine transporter type 2,GlyT-2,GlyT2,NET1,SC6A5,SC6AC5,Slc6a5,SLC6A5 solute carrier family 6 neurotransmitter transporter, glycine member 5,Slc6a9,Sodium and chloride dependent glycine transporter 2,Sodium- and chloride-dependent glycine transporter 2,Solute carrier family 6 member 5,Solute carrier family 6 neurotransmitter transporter glycine member 5
Background: 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.