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
  • sodium- and chloride-dependent glycine transporter 2
  • norepinephrine transporter 1
  • solute carrier family 6 (neurotransmitter transporter, glycine), member 5
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Properties