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slc25a15

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Official Full Name
solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
Background
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.
Synonyms
SLC25A15; solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15; HHH, ORNT1; mitochondrial ornithine transporter 1; D13S327; ORC1; ornithine transporter 1; ORNT1; Solute carrier family 25 member 15; HHH; Ornithine transporter, mitochondrial; ORNT1_HUMAN

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