SLC6A5
Function
Sodium- and chloride-dependent glycine transporter (PubMed:10381548, PubMed:10606742, PubMed:16751771, PubMed:31370103, PubMed:9845349). 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.
Involvement in disease
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
N-glycosylated.
Sequence Similarities
Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A5 subfamily.
Tissue Specificity
Expressed in medulla, and to a lesser extent in spinal cord and cerebellum.
Cellular localization
- Cell membrane
- Multi-pass membrane protein
Alternative names
GLYT2, NET1, SLC6A5, Sodium- and chloride-dependent glycine transporter 2, GlyT-2, GlyT2, Solute carrier family 6 member 5