Aliases for SLC17A8 Gene
External Ids for SLC17A8 Gene
Previous HGNC Symbols for SLC17A8 Gene
Previous GeneCards Identifiers for SLC17A8 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]
GeneCards Summary for SLC17A8 Gene
SLC17A8 (Solute Carrier Family 17 Member 8) is a Protein Coding gene. Diseases associated with SLC17A8 include Deafness, Autosomal Dominant 25 and Dfna25 Nonsyndromic Hearing Loss And Deafness. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and GABAergic synapse. GO annotations related to this gene include symporter activity and L-glutamate transmembrane transporter activity. An important paralog of this gene is SLC17A6.
UniProtKB/Swiss-Prot for SLC17A8 Gene
Mediates the uptake of glutamate into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells. May also mediate the transport of inorganic phosphate.