background:
This gene encodes a vesicular glutamate transporter. The encoded protein transports the neurotransmitter glutamate into synaptic vesicles before it is released into the synaptic cleft. Mutations in this gene are the cause of autosomal-dominant nonsyndromic type 25 deafness. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Function:
Mediates the uptake of glutamate into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells. May also mediate the transport of inorganic phosphate.
Subcellular Location:
Cytoplasmic vesicle > secretory vesicle > synaptic vesicle membrane. Membrane. Cell junction > synapse > synaptosome.
Tissue Specificity:
Expressed in amygdala, cerebellum, hippocampus, medulla, spinal cord and thalamus.
DISEASE:
Defects in SLC17A8 are the cause of deafness autosomal dominant type 25 (DFNA25) [MIM:605583]. DFNA25 is a form of sensorineural hearing loss. The expression of DFNA25 deafness 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.
Similarity:
Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. VGLUT subfamily.
Database links:
Entrez Gene: 246213 Human
Entrez Gene: 216227 Mouse
Entrez Gene: 266767 Rat
Omim: 607557 Human
SwissProt: Q8NDX2 Human
SwissProt: Q8SFU8 Mouse
SwissProt: Q7TSF2 Rat
Unigene: 116871 Human
Unigene: 233921 Mouse
Unigene: 84876 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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