SLC17A8

SLC17A8 is a gene that in humans encodes a protein known as vesicular glutamate transporter 3 (VGLUT3). This protein is a member of the solute carrier family 17. The protein encoded by this gene is a vesicular glutamate transporter that is characterized by the transport of glutamate into vesicles, using the proton gradient maintained across the vesicular membrane. Its function implies an important role for maintaining the excitatory neurotransmission in the central nervous system (CNS). Mutations in this gene have been associated with audiogenic seizures and nonsyndromic hearing loss.

Function

The SLC17A8 gene provides instructions for making a protein that is involved in sending signals in the brain and spinal cord (the central nervous system). This protein, called VGLUT3, is found in nerve cells (neurons) where it helps package a molecule called glutamate into transport vesicles. These vesicles carry glutamate to the ends of neurons, where it is released and attaches (binds) to glutamate receptors on neighboring neurons. This binding triggers the receptors and stimulates the neurons to send signals. Glutamate is the most abundant excitatory neurotransmitter in the nervous system, which means it promotes nerve impulses.

Clinical significance

Mutations in the SLC17A8 gene have been associated with DFNA25, a form of nonsyndromic hearing loss. Nonsyndromic hearing loss is a partial or total loss of hearing that is not associated with other signs and symptoms. In most cases, the cause of nonsyndromic hearing loss is genetic. DFNA25 is characterized by adult-onset of progressive, moderate to severe high-frequency hearing impairment.

See also

• Solute carrier family
• Vesicular glutamate transporter
• Audiogenic seizure
• Nonsyndromic deafness

External links

• NCBI Gene
• NIH Genetics Home Reference

SLC17A8 Resources
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