SLC17A8 solute carrier family 17 member 8
Gene ID: 246213, updated on 2-Nov-2024Gene type: protein coding
Also known as: DFNA25; VGLUT3
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC17A8
- Go to Variation Viewer for SLC17A8 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Autosomal dominant nonsyndromic hearing loss 25 | See labs |
| Genome-wide association study identifies a novel susceptibility locus at 12q23.1 for lung squamous cell carcinoma in han chinese. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2022-02-08) ClinGen Genome Curation PageHaploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2022-02-08) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 12q23.1
- Sequence:
- Chromosome: 12; NC_000012.12 (100357074..100422055)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC17A8 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SLC17A8 database
- Variation ViewerRelated Variants
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