SLC17A8
Function
Multifunctional transporter that transports L-glutamate as well as multiple ions such as chloride, sodium and phosphate (PubMed:12151341, PubMed:33440152). At the synaptic vesicle membrane, mainly functions as an uniporter that mediates the uptake of L-glutamate into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells (PubMed:12151341). The L-glutamate uniporter activity is electrogenic and is driven by the proton electrochemical gradient, mainly by the electrical gradient established by the vacuolar H(+)-ATPase across the synaptic vesicle membrane (PubMed:12151341). In addition, functions as a chloride channel that allows a chloride permeation through the synaptic vesicle membrane that affects the proton electrochemical gradient and promotes synaptic vesicles acidification (By similarity). At the plasma membrane, following exocytosis, functions as a symporter of Na(+) and phosphate from the extracellular space to the cytoplasm allowing synaptic phosphate homeostasis regulation (Probable). The symporter activity is electrogenic (PubMed:33440152). Moreover, operates synergistically with SLC18A3/VACHT under a constant H(+) gradient, thereby allowing striatal vesicular acetylcholine uptake (By similarity).
Involvement in disease
Deafness, autosomal dominant, 25
DFNA25
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA25 expression is variable in terms of onset and rate of progression, with an age-dependent penetrance resembling an early-onset presbycusis, or senile deafness, a progressive bilateral loss of hearing that occurs in the aged.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. VGLUT subfamily.
Tissue Specificity
Expressed in amygdala, cerebellum, hippocampus, medulla, spinal cord and thalamus.
Cellular localization
- Cytoplasmic vesicle
- Secretory vesicle
- Synaptic vesicle membrane
- Cell membrane
- Multi-pass membrane protein
- Synapse
- Synaptosome
Alternative names
VGLUT3, SLC17A8, Vesicular glutamate transporter 3, VGluT3, Solute carrier family 17 member 8