SLC25A15
Chr 13ARsolute carrier family 25 member 15
Also known as: D13S327, HHH, LNC-HC, ORC1, ORNT1
The encoded protein transports ornithine across the inner mitochondrial membrane and is essential for the urea cycle, functioning in ammonium detoxification and arginine biosynthesis. Mutations cause hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome through autosomal recessive inheritance. The pathogenic mechanism involves dominant negative effects that disrupt normal mitochondrial ornithine transport.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SLC25A15 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools