SLC17A8 Antibody – Rabbit Polyclonal

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.

SLC17A8: Mediates the uptake of glutamate into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells. May also mediate the transport of inorganic phosphate. Defects in SLC17A8 are the cause of deafness autosomal dominant type 25 (DFNA25). DFNA25 is a form of sensorineural hearing loss. The expression of DFNA25 deafness 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. Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. VGLUT subfamily. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Transporter, SLC family; Transporter; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 12q23.1

Cellular Component: neuron projection; synaptic vesicle membrane; integral to membrane; cell junction

Molecular Function: symporter activity; L-glutamate transmembrane transporter activity

Biological Process: sensory perception of sound; neurotransmitter transport; sodium ion transport; ion transport; transmembrane transport

Disease: Deafness, Autosomal Dominant 25