{"symbol":"SLC6A5","synonyms":["HKPX3","GLYT-2"],"name":"solute carrier family 6 (neurotransmitter transporter), member 5","description":"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]","ncbiEntrezGeneId":9152,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/9152","proteins":[{"symbol":"SC6A5_HUMAN","href":"/api/1.0/protein/SC6A5_HUMAN"}],"hgncRootFamilies":[{"name":"Solute carriers (SLC)","href":"/api/1.0/gene_family/Solute+carriers+%28SLC%29"}]}