SLC25A15

Chr 13AR

solute carrier family 25 member 15

Also known as: D13S327, HHH, LNC-HC, ORC1, ORNT1

NCBI Gene: 10166 ENSG00000102743 UniProt: Q9Y619 OMIM: 603861

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.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

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]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Hyperornithinemia-hyperammonemia-homocitrullinemia syndromeMIM #238970

Clinical highlights

Gene-disease validity (ClinGen)

ornithine translocase deficiency · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.38

LOEUF

LOF

Mechanism· G2P

📖

GeneReview available — SLC25A15