High impact information on SLC25A2

• 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 [1].
• When ORNT2 is overexpressed transiently in cultured fibroblasts from HHH patients, it rescues the deficient ornithine metabolism in these cells [1].
• To our knowledge, this is the first report of a functional retroposon (ORNT2) that can rescue the disease phenotype of the gene it arose from, ORNT1 [1].
• As such, ORNT2 may eventually become a candidate for pharmacological-based approaches to correct a urea cycle disorder [1].
• Here we identify a new intronless gene, ORNT2, located on chromosome 5 [1].

Biological context of SLC25A2

• Our results suggest that ORNT2 may in part be responsible for the milder phenotype in HHH patients secondary to a gene redundancy effect [1].

Anatomical context of SLC25A2

• The gene product of ORNT2 is 88% identical to ORNT1, targets to the mitochondria and is expressed in human liver, pancreas, kidney, and cultured fibroblasts from control and HHH patients [1].

References