RecName: Full=Vesicular glutamate transporter 3; Short=VGluT3; AltName - Protein

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The c.824C>A and c.616dupA mutations in the SLC17a8 gene are associated with auditory neuropathy and lead to defective expression of VGluT3. [Neuroreport. 2021]
The c.824C>A and c.616dupA mutations in the SLC17a8 gene are associated with auditory neuropathy and lead to defective expression of VGluT3.
Qi Y, Gong S, Liu K, Song Y. Neuroreport. 2021 Aug 4; 32(11):949-956.
Identification of a novel splicing mutation within SLC17A8 in a Korean family with hearing loss by whole-exome sequencing. [Gene. 2017]
Identification of a novel splicing mutation within SLC17A8 in a Korean family with hearing loss by whole-exome sequencing.
Ryu N, Lee S, Park HJ, Lee B, Kwon TJ, Bok J, Park CI, Lee KY, Baek JI, Kim UK. Gene. 2017 Sep 5; 627:233-238. Epub 2017 Jun 21.
Characterization of a Human Point Mutation of VGLUT3 (p.A211V) in the Rodent Brain Suggests a Nonuniform Distribution of the Transporter in Synaptic Vesicles. [J Neurosci. 2017]
Characterization of a Human Point Mutation of VGLUT3 (p.A211V) in the Rodent Brain Suggests a Nonuniform Distribution of the Transporter in Synaptic Vesicles.
Ramet L, Zimmermann J, Bersot T, Poirel O, De Gois S, Silm K, Sakae DY, Mansouri-Guilani N, Bourque MJ, Trudeau LE, et al. J Neurosci. 2017 Apr 12; 37(15):4181-4199. Epub 2017 Mar 17.

RefSeq genomic sequence
See the genomic reference sequence for the SLC17A8 gene (NG_021175.1).
RefSeq protein isoforms
See 2 reference sequence protein isoforms for the SLC17A8 gene.

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Q8NDX2 [Domain Mapping of Disease Mut...]
Q8NDX2
Domain Mapping of Disease Mutations
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Protein