Protein Name | solute carrier family 6 member 5 |
---|---|
Organism | Homo sapiens |
Gene ID | 9152 |
Gene Symbol | SLC6A5 |
UniProt | Q9Y345 (SC6A5_HUMAN), Q4VAM6 (Q4VAM6_HUMAN), Q4VAM4 (Q4VAM4_HUMAN) |
Relationships |
Total Number of functionally related compound(s) :
34
Total Number of Articles : 39 |
Description |
solute carrier family 6 member 5 |
Gene 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] |
synonyms |
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Properties | |