SLC6A5, Official Symbol SLC6A5provided by HGNC Official Full Name solute carrier family 6 member 5provided by HGNC Primary source HGNC:HGNC:11051 See related Ensembl:ENSG00000165970 MIM:604159; AllianceGenome:HGNC:11051 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NET1; GLYT2; HKPX3; GLYT-2 Summary 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] Expression Low expression observed in reference dataset See more Orthologs mouse all