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RNA tissue category: Tissue enhanced (liver, small intestine)
GENE INFORMATION
Gene name
SLC25A15 (HGNC Symbol)
Synonyms
D13S327, HHH, ORC1, ORNT1
Description
Solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 (HGNC Symbol)
Entrez gene 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]