| Entrez Gene ID |
9152 |
| Official Gene Symbol |
SLC6A5 (GeneCards) |
| Full name |
solute carrier family 6 member 5 |
| Location |
11p15.1 |
| Other ids |
Vega : OTTHUMG00000166024
MIM : 604159
HGNC : HGNC:11051
Ensembl : ENSG00000165970
|
| Other names |
NET1,
GLYT2,
HKPX3,
GLYT-2
|
| 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] |