SLC25A26 solute carrier family 25 member 26
Gene ID: 115286, updated on 3-Apr-2024Gene type: protein coding
Also known as: SAMC; COXPD28
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC25A26
- Go to Variation Viewer for SLC25A26 variants
Summary
This gene is a member of the mitochondrial carrier family which includes nuclear-encoded transporters localized on the inner mitochondrial membranes. Members of the family transport important small molecules across the mitochondrial inner membrane. This protein is involved in the transport of S-adenosylmethionine (SAM) into the mitochondria. Mutations in this gene are associated with combined oxidative phosphorylation deficiency 28. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Combined oxidative phosphorylation deficiency 28 | See labs |
| Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. GeneReviews: Not available |
Genomic context
- Location:
- 3p14.1
- Sequence:
- Chromosome: 3; NC_000003.12 (66133610..66378927)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC25A26 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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