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 Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna. Among its related pathways are Circadian entrainment and GABAergic synapse. Gene Ontology (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.