Gene Symbol | SLC6A5 |
Entrez Gene ID | 9152 |
Full Name | solute carrier family 6 member 5 |
Synonyms | GLYT-2,GLYT2,HKPX3,NET1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Hyperekplexia 3, 614618 (3) |