SLC17A8

Solute carrier family 17 (vesicular glutamate transporter), member 8
Identifiers
Symbols SLC17A8 ; DFNA25; VGLUT3
External IDs OMIM: 607557 MGI: 3039629 HomoloGene: 13584 IUPHAR: 1009 GeneCards: SLC17A8 Gene
Orthologs
Species Human Mouse
Entrez 246213 216227
Ensembl ENSG00000179520 ENSMUSG00000019935
UniProt Q8NDX2 Q8BFU8
RefSeq (mRNA) NM_001145288 NM_182959
RefSeq (protein) NP_001138760 NP_892004
Location (UCSC) Chr 12:
100.36 – 100.42 Mb
Chr 10:
89.57 – 89.62 Mb
PubMed search

Solute carrier family 17 member 8 (SLC17A8) also known as the vesicular glutamate transporter 3 (VGluT3) is a protein that in humans is encoded by the SLC17A8 gene.[1]

Function

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.[1]

Clinical significance

Mutations in this gene are the cause of autosomal-dominant nonsyndromic deafness type 25 (DFNA25).[2][3]

References

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


This article is issued from Wikipedia - version of the Wednesday, September 02, 2015. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.