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Vesicular glutamate transporter 3

From Wikipedia, the free encyclopedia
SLC17A8
Identifiers
AliasesSLC17A8, DFNA25, VGLUT3, solute carrier family 17 member 8
External IDsOMIM: 607557; MGI: 3039629; HomoloGene: 13584; GeneCards: SLC17A8; OMA:SLC17A8 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_139319
NM_001145288

NM_182959
NM_001310710

RefSeq (protein)

NP_001138760
NP_647480

NP_001297639
NP_892004

Location (UCSC)Chr 12: 100.36 – 100.42 MbChr 10: 89.41 – 89.46 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

Function

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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

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

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000179520Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000019935Ensembl, 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

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