SLC17A8

SLC17A8
Identifiers
Aliases SLC17A8, DFNA25, VGLUT3, solute carrier family 17 member 8
External IDs MGI: 3039629 HomoloGene: 13584 GeneCards: SLC17A8
Orthologs
Species Human Mouse
Entrez

246213

216227

Ensembl

ENSG00000179520

ENSMUSG00000019935

UniProt

Q8NDX2

Q8BFU8

RefSeq (mRNA)

NM_139319
NM_001145288

NM_182959
NM_001310710

RefSeq (protein)

NP_001138760.1
NP_647480.1

NP_892004.1

Location (UCSC) Chr 12: 100.36 – 100.42 Mb Chr 10: 89.57 – 89.62 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

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.[3]

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.[3]

Clinical significance

Mutations in this gene are the cause of autosomal-dominant nonsyndromic deafness type 25 (DFNA25).[4][5]

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 6/5/2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.