Description
Product Characteristics: FUNCTION: Ornithine transport across inner mitochondrial membrane, from the cytoplasm to the matrix. Defects in SLC25A15 are the cause of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome). It is an autosomal recessive disorder resulting in various neurologic symptoms, including mental retardation, spastic paraparesis with pyramidal signs, cerebellar ataxia, and episodic disturbance of consciousness or coma caused by hyperammonemia. It causes a functional impairment of the urea cycle. SUBCELLULAR LOCATION: Mitochondrion inner membrane, Multi-pass membrane protein,SLC25 Family,Mitochondrial ornithine transporter 1, Solute carrier family 25 member 15, ORNT1, SP1855
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]