SLC6A5 蛋白
(Solute Carrier Family 6 (Neurotransmitter Transporter, Glycine), Member 5 (SLC6A5))
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].