Gene Symbol | SLC17A8 |
Entrez Gene ID | 246213 |
Full Name | solute carrier family 17 member 8 |
Synonyms | DFNA25,VGLUT3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Deafness, autosomal dominant 25, 605583 (3) |