SLC25A15 Chromosome 13
Solute carrier family 25 member 15
Upload your DNA to see your personal genotypes for variants in SLC25A15.
What This Gene Does
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]
Gene Info
Gene Group
"MicroRNA protein coding host genes|Solute carrier family 25"
Locus Type
gene with protein product
Location
13q14.11
Ensembl
ENSG00000102743
Associated Conditions (8)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Congenital portosystemic shunt
Inborn genetic diseases
SLC25A15-related disorder
Intellectual disability
Abnormal facial shape
Cardiac arrhythmia
Hereditary breast ovarian cancer syndrome
Key Variants
RS1057519112
Conflicting classifications of pathogenicity
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Health Risk
RS121908535
Conflicting classifications of pathogenicity
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Congenital portosystemic shunt, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Health Risk
RS141028076
Conflicting classifications of pathogenicity
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Health Risk
RS142236568
Conflicting classifications of pathogenicity
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Inborn genetic diseases, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Health Risk
RS151239794
Conflicting classifications of pathogenicity
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Inborn genetic diseases, SLC25A15-related disorder
Health Risk
RS187685447
Conflicting classifications of pathogenicity
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Health Risk
RS200219313
Conflicting classifications of pathogenicity
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, SLC25A15-related disorder, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Health Risk
RS200958757
Conflicting classifications of pathogenicity
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Health Risk
RS34615430
Conflicting classifications of pathogenicity
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Intellectual disability, SLC25A15-related disorder
Health Risk
RS35434090
Conflicting classifications of pathogenicity
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Health Risk
RS369201060
Conflicting classifications of pathogenicity
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Health Risk
RS536354947
Conflicting classifications of pathogenicity
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Health Risk
All Variants (86)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2138056681 | Health Risk | Pathogenic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| RS2138056832 | Health Risk | Pathogenic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| RS2138057963 | Health Risk | Pathogenic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| RS2546917536 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2546917556 | Health Risk | Pathogenic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| RS2546917561 | Health Risk | Pathogenic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| RS2546920750 | Health Risk | Pathogenic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| RS2546922090 | Health Risk | Pathogenic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| RS2546922684 | Health Risk | Pathogenic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| RS2546922719 | Health Risk | Pathogenic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| RS2546922730 | Health Risk | Pathogenic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| RS2546923499 | Health Risk | Pathogenic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| RS752415542 | Health Risk | Pathogenic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| RS754436560 | Health Risk | Pathogenic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| RS756522093 | Health Risk | Pathogenic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| RS902890400 | Health Risk | Pathogenic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| RS104894424 | Health Risk | Pathogenic/Likely pathogenic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| RS104894430 | Health Risk | Pathogenic/Likely pathogenic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| RS1064793683 | Health Risk | Pathogenic/Likely pathogenic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| RS1480063127 | Health Risk | Pathogenic/Likely pathogenic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| RS1566121215 | Health Risk | Pathogenic/Likely pathogenic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| RS1882233400 | Health Risk | Pathogenic/Likely pathogenic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| RS1882296805 | Health Risk | Pathogenic/Likely pathogenic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, SLC25A15-related disorder, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| RS199894905 | Health Risk | Pathogenic/Likely pathogenic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Inborn genetic diseases |
| RS202247805 | Health Risk | Pathogenic/Likely pathogenic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| RS202247806 | Health Risk | Pathogenic/Likely pathogenic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| RS202247807 | Health Risk | Pathogenic/Likely pathogenic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| RS2138045987 | Health Risk | Pathogenic/Likely pathogenic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| RS2138056689 | Health Risk | Pathogenic/Likely pathogenic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| RS2546915868 | Health Risk | Pathogenic/Likely pathogenic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| RS2546917584 | Health Risk | Pathogenic/Likely pathogenic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| RS2546917744 | Health Risk | Pathogenic/Likely pathogenic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| RS2546920755 | Health Risk | Pathogenic/Likely pathogenic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| RS2546922700 | Health Risk | Pathogenic/Likely pathogenic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| RS749817266 | Health Risk | Pathogenic/Likely pathogenic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| RS780201405 | Health Risk | Pathogenic/Likely pathogenic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |