Cloning and characterization of human ORNT2: a second mitochondrial ornithine transporter that can rescue a defective ORNT1 in patients with the hyperornithinemia–hyperammonemia–homocitrullinuria syndrome, a urea cycle disorder

• Published in: Molecular genetics and metabolism Vol. 79; no. 4; pp. 257 - 271
• Main Authors: Camacho, José A, Rioseco-Camacho, Natalia, Andrade, Dario, Porter, John, Kong, Jin
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.08.2003
• Subjects: Amino Acid Sequence; Amino Acid Transport Systems, Basic; Cell Line; Citrulline - analogs & derivatives; Citrulline - blood; Cloning, Molecular; Fibroblasts; Gene Frequency; Humans; Hyperammonemia - blood; Hyperammonemia - genetics; Hyperammonemia - metabolism; Membrane Transport Proteins - chemistry; Membrane Transport Proteins - genetics; Mitochondrial carrier family of proteins; Mitochondrial ornithine transporter; Molecular Sequence Data; Ornithine - blood; Polymorphism, Genetic; Proteins - genetics; Syndrome; Urea cycle disorders; Mitochondrial carrier family of proteins; Urea cycle disorders; Mitochondrial ornithine transporter

We recently characterized the mitochondrial ornithine transporter (ORNT1), the gene defective in the hyperornithinemia–hyperammonemia–homocitrullinuria (HHH) syndrome, a urea cycle disorder. Despite the apparent functional ablation of ORNT1 in 10 French-Canadian probands with the ORNT1-F188Δ allele,...