SLC1A2 solute carrier family 1 member 2
Gene ID: 6506, updated on 2-Nov-2024Gene type: protein coding
Also known as: GLT1; HBGT; DEE41; EAAT2; GLT-1; EIEE41
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC1A2
- Go to Variation Viewer for SLC1A2 variants
Summary
This gene encodes a member of a family of solute transporter proteins. The membrane-bound protein is the principal transporter that clears the excitatory neurotransmitter glutamate from the extracellular space at synapses in the central nervous system. Glutamate clearance is necessary for proper synaptic activation and to prevent neuronal damage from excessive activation of glutamate receptors. Improper regulation of this gene is thought to be associated with several neurological disorders. Alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Jun 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common variants in left/right asymmetry genes and pathways are associated with relative hand skill. GeneReviews: Not available | |
| Developmental and epileptic encephalopathy, 41 | See labs |
| Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. GeneReviews: Not available | |
| Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium. GeneReviews: Not available | |
| Polymorphisms in the glial glutamate transporter SLC1A2 are associated with essential tremor. GeneReviews: Not available |
Genomic context
- Location:
- 11p13
- Sequence:
- Chromosome: 11; NC_000011.10 (35251205..35420507, complement)
- Total number of exons:
- 20
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC1A2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ALSoD/SLC1A2 genetic mutations
- 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
- Variation ViewerRelated Variants
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