SLC6A5 Proteine

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. [provided by RefSeq, Oct 2009].