SLC17A8 gene

solute carrier family 17 member 8

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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.[provided by RefSeq, May 2010]

From UniProt:

Mediates the uptake of glutamate into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells. May also mediate the transport of inorganic phosphate.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Deafness, autosomal dominant 25

From UniProt:

Deafness, autosomal dominant, 25 (DFNA25): A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA25 expression is variable in terms of onset and rate of progression, with an age-dependent penetrance resembling an early-onset presbycusis, or senile deafness, a progressive bilateral loss of hearing that occurs in the aged. [MIM:605583]

Cytogenetic Location: 12q23.1, which is the long (q) arm of chromosome 12 at position 23.1

Molecular Location: base pairs 100,357,079 to 100,422,059 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12q23.1, which is the long (q) arm of chromosome 12 at position 23.1
  • DFNA25
  • VGLUT3