SLC25A1 solute carrier family 25 member 1
Gene ID: 6576, updated on 5-Jan-2025Gene type: protein coding
Also known as: CIC; CTP; SEA; CMS23; D2L2AD; SLC20A3
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC25A1
- Go to Variation Viewer for SLC25A1 variants
Summary
This gene encodes a member of the mitochondrial carrier subfamily of solute carrier proteins. Members of this family include nuclear-encoded transporters that translocate small metabolites across the mitochondrial membrane. This protein regulates the movement of citrate across the inner membranes of the mitochondria. Mutations in this gene have been associated with combined D-2- and L-2-hydroxyglutaric aciduria. Pseudogenes of this gene have been identified on chromosomes 7, 11, 16, and 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Congenital myasthenic syndrome MedGen: C0751882GeneReviews: Congenital Myasthenic Syndromes Overview | See labs |
| D,L-2-hydroxyglutaric aciduria | See labs |
| Genome-wide association study identifies multiple loci influencing human serum metabolite levels. GeneReviews: Not available | |
| Myasthenic syndrome, congenital, 23, presynaptic | See labs |
| Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. GeneReviews: Not available |
Genomic context
- Location:
- 22q11.21
- Sequence:
- Chromosome: 22; NC_000022.11 (19175581..19178736, complement)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC25A1 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
- Variation ViewerRelated Variants
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