SLC6A17
Function
Synaptic vesicle transporter with apparent selectivity for neutral amino acids. The transport is sodium-coupled but chloride-independent, likely driven by the proton electrochemical gradient generated by vacuolar H(+)-ATPase in an overall electrogenic mechanism. May contribute to the synaptic uptake of neurotransmitter precursors in a process coupled in part to vesicle exocytosis.
Involvement in disease
Intellectual developmental disorder, autosomal recessive 48
MRT48
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT48 patients show moderate to severe intellectual disability and additional features including progressive tremor, speech impairment, and sometimes behavioral problems.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family.
Cellular localization
- Cytoplasmic vesicle
- Secretory vesicle
- Synaptic vesicle membrane
- Multi-pass membrane protein
- Postsynapse
- Presynapse
- Localizes at synaptic junctions - at both pre- and post-synaptic sites - particularly in excitatory glutamatergic terminals.
Alternative names
NTT4, SLC6A17, Sodium-dependent neutral amino acid transporter SLC6A17, Sodium-dependent neurotransmitter transporter NTT4, Solute carrier family 6 member 17