SLC17A8
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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
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- 1 2 "Entrez Gene: solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter)".
- ↑ Online Mendelian Inheritance in Man (OMIM) 605583
- ↑ 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
- Greene CC, McMillan PM, Barker SE, et al. (2001). "DFNA25, a novel locus for dominant nonsyndromic hereditary hearing impairment, maps to 12q21-24.". Am. J. Hum. Genet. 68 (1): 254–60. doi:10.1086/316925. PMC 1234922. PMID 11115382.
- Fremeau RT; Voglmaier S; Seal RP; Edwards RH (2004). "VGLUTs define subsets of excitatory neurons and suggest novel roles for glutamate.". Trends Neurosci. 27 (2): 98–103. doi:10.1016/j.tins.2003.11.005. PMID 15102489.
- Seal RP; Edwards RH (2006). "The diverse roles of vesicular glutamate transporter 3.". Handb Exp Pharmacol (175): 137–50. doi:10.1007/3-540-29784-7_7. PMID 16722234.
- Ruel J, Emery S, Nouvian R, et al. (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.
- Almqvist J, Huang Y, Laaksonen A, et al. (2007). "Docking and homology modeling explain inhibition of the human vesicular glutamate transporters.". Protein Sci. 16 (9): 1819–29. doi:10.1110/ps.072944707. PMC 2206968. PMID 17660252.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Gong J, Jellali A, Mutterer J, et al. (2006). "Distribution of vesicular glutamate transporters in rat and human retina.". Brain Res. 1082 (1): 73–85. doi:10.1016/j.brainres.2006.01.111. PMID 16516863.
- Linke N; Bódi N; Resch BE; et al. (2008). "Developmental pattern of three vesicular glutamate transporters in the myenteric plexus of the human fetal small intestine.". Histol. Histopathol. 23 (8): 979–86. PMID 18498073.
- Takamori S; Malherbe P; Broger C; Jahn R (2002). "Molecular cloning and functional characterization of human vesicular glutamate transporter 3.". EMBO Rep. 3 (8): 798–803. doi:10.1093/embo-reports/kvf159. PMC 1084213. PMID 12151341.
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