Gene: SLC17A8

Alternate names for this Gene: DFNA25|VGLUT3

Gene Summary: 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. Mutations in this gene are the cause of autosomal-dominant nonsyndromic type 25 deafness. Alternate splicing results in multiple transcript variants.

Gene is located in Chromosome: 12

Location in Chromosome : 12q23.1

Description of this Gene: solute carrier family 17 member 8

Type of Gene: protein-coding

rs121918339 in SLC17A8 gene and DEAFNESS, AUTOSOMAL DOMINANT 25 (disorder) PMID 18674745 2008 Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice.

rs1887276 in SLC17A8 gene and Primary biliary cirrhosis PMID 23000144 2012 Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.