Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter

  title={Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter},
  author={Jose A. Camacho and Cassandra Obie and Barbara Biery and Barbara K. Goodman and Chien-an A. Hu and Shlomo Almashanu and Gary Steel and Robin Casey and Marie Lambert and Grant A. Mitchell and David Valle},
  journal={Nature Genetics},
Neurospora crassa ARG13 and Saccharomyces cerevisiae ARG11 encode mitochondrial carrier family (MCF) proteins that transport ornithine across the mitochondrial inner membrane. We used their sequences to identify EST candidates that partially encode orthologous mammalian transporters. We thereby identified such a gene (ORNT1) that maps to 13q14 and whose expression, similar to that of other urea cycle (UC) components, was high in liver and varied with changes in dietary protein. ORNT1 expression… CONTINUE READING
55 Citations
59 References
Similar Papers


Publications citing this paper.
Showing 1-10 of 55 extracted citations


Publications referenced by this paper.
Showing 1-10 of 59 references

Identification and characterization of human PMP34, a protein closely related to the peroxisomal integral membrane protein PMP47 of Candida boidinii

  • T Wylin
  • Eur. J. Biochem
  • 1998

the Quebec experience

  • Carter, K. C. et al. Mutation at the phenylalanine hydroxylas gene, its use to document population genetic variation
  • Eur. J. Hum. Genet. 6, 61–70
  • 1998

Cloning of the human carnitine acylcarnitine carrier cDNA and identification of the molecular defect in a patient

  • M Huizing
  • Am. J. Hum. Genet
  • 1997

Similar Papers

Loading similar papers…