SLC25A15 solute carrier family 25 member 15
Gene ID: 10166, updated on 7-Apr-2024Gene type: protein coding
Also known as: HHH; ORC1; ORNT1; LNC-HC; D13S327
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC25A15
- Go to Variation Viewer for SLC25A15 variants
Summary
This gene is a member of the mitochondrial carrier family. The encoded protein transports ornithine across the inner mitochondrial membrane from the cytosol to the mitochondrial matrix. The protein is an essential component of the urea cycle, and functions in ammonium detoxification and biosynthesis of the amino acid arginine. Mutations in this gene result in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. There is a pseudogene of this locus on the Y chromosome.[provided by RefSeq, May 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population. GeneReviews: Not available | |
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome MedGen: C0268540OMIM: 238970GeneReviews: Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome | See labs |
Genomic context
- Location:
- 13q14.11
- Sequence:
- Chromosome: 13; NC_000013.11 (40789611..40812460)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC25A15 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
- SLC25A15 @ LOVD
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.