SLC13A5 solute carrier family 13 member 5
Gene ID: 284111, updated on 5-Mar-2024Gene type: protein coding
Also known as: INDY; NACT; DEE25; mIndy; EIEE25
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC13A5
- Go to Variation Viewer for SLC13A5 variants
Summary
This gene encodes a protein belonging to the solute carrier family 13 group of proteins. This family member is a sodium-dependent citrate cotransporter that may regulate metabolic processes. Mutations in this gene cause early infantile epileptic encephalopathy 25. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
An atlas of genetic influences on human blood metabolites. GeneReviews: Not available | |
Developmental and epileptic encephalopathy, 25 | See labs |
The genetic architecture of economic and political preferences. GeneReviews: Not available |
Genomic context
- Location:
- 17p13.1
- Sequence:
- Chromosome: 17; NC_000017.11 (6684719..6713369, complement)
- Total number of exons:
- 12
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for SLC13A5 variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- 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
- SNP: GeneViewSNPs linked from GeneView
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