Description
Product Characteristics:
Aliases: HHH antibody, Mitochondrial ornithine transporter 1 antibody, ORC1 antibody, Ornithine transporter 1 antibody, Ornithine transporter, mitochondrial antibody, ORNT1 antibody, ORNT1_HUMAN antibody, SLC25A15 antibody, Solute carrier family 25 (Mitochondrial carrier, ornithine transporter) member 15 antibody, Solute carrier family 25 member 15 antibody
Target Information: 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]