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. Two transcript variants encoding different isoforms have been found for this gene.

solute carrier family 6 (neurotransmitter transporter, glycine), member 5

Sodium- and chloride-dependent glycine transporter (PubMed:9845349, PubMed:10381548, PubMed:10606742, PubMed:31370103, PubMed:16751771).
Terminates the action of glycine by its high affinity sodium-dependent reuptake into presynaptic terminals (PubMed:9845349).
May be responsible for the termination of neurotransmission at strychnine-sensitive glycinergic synapses (PubMed:9845349).
Isoform 2
Lacks sodium- and chloride-dependent glycine transporter activity.
Isoform 3
Lacks sodium- and chloride-dependent glycine transporter activity.

Biological Process chemical synaptic transmissionManual Assertion Based On ExperimentTAS:ProtInc
Biological Process glycine import across plasma membraneManual Assertion Based On ExperimentIDA:FlyBase
Biological Process neurotransmitter uptakeIEA:Ensembl
Biological Process sodium ion transmembrane transportManual Assertion Based On ExperimentIBA:GO_Central
Biological Process synaptic transmission, glycinergicManual Assertion Based On ExperimentIMP:FlyBase

Cell membrane

Hyperekplexia 3 (HKPX3):
A neurologic disorder characterized by neonatal hypertonia, an exaggerated startle response to tactile or acoustic stimuli, and life-threatening neonatal apnea episodes. Notably, in some cases, symptoms resolved in the first year of life.

N-glycosylated.