SLC25A22 solute carrier family 25 member 22
Gene ID: 79751, updated on 7-Apr-2024Gene type: protein coding
Also known as: GC1; DEE3; GC-1; EIEE3; NET44
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC25A22
- Go to Variation Viewer for SLC25A22 variants
Summary
This gene encodes a mitochondrial glutamate carrier. Mutations in this gene are associated with early infantile epileptic encephalopathy. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jul 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Developmental and epileptic encephalopathy, 3 | See labs |
Genomic context
- Location:
- 11p15.5
- Sequence:
- Chromosome: 11; NC_000011.10 (790475..798281, complement)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC25A22 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
- SLC25A22 database
- Variation ViewerRelated Variants
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