Vesicular Glutamate Transporter 3
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Vesicular Glutamate Transporter 3
SLC17A8
Identifiers
AliasesSLC17A8, DFNA25, VGLUT3, solute carrier family 17 member 8
External IDsOMIM: 607557 MGI: 3039629 HomoloGene: 13584 GeneCards: SLC17A8
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)[1]
Chromosome 12 (human)
Genomic location for SLC17A8
Genomic location for SLC17A8
Band12q23.1Start100,357,074 bp[1]
End100,422,055 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)Chr 12: 100.36 - 100.42 MbChr 10: 89.57 - 89.62 Mb
PubMed search[3][4]
Wikidata

Vesicular glutamate transporter 3 (VGLUT3) is a protein that in humans is encoded by the SLC17A8 gene.[5]

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.[5]

Clinical significance

Mutations in this gene are the cause of autosomal-dominant nonsyndromic deafness type 25 (DFNA25).[6][7]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000179520 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000019935 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter)".
  6. ^ Online Mendelian Inheritance in Man (OMIM) 605583
  7. ^ Ruel J, Emery S, Nouvian R, et al. (August 2008). "Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice". Am. J. Hum. Genet. 83 (2): 278-92. doi:10.1016/j.ajhg.2008.07.008. PMC 2495073. PMID 18674745.

Further reading

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



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