Recombinant Human Mitochondrial ornithine transporter 1 (SLC25A15)

1. characterized mutations of the proposed substrate binding site in ORC1 and ORC2; demonstrated that the residue at position 179 in the 2 soforms is largely responsible for the difference in their substrate specificity;concluded that Arg-179 is a key residue in the opening of the carrier to the matrix side PMID: 22262851
2. Mutation analysis revealed two novel mutations in the ORNT1 gene. PMID: 22465082
3. Useful insights for in-depth understanding of the molecular mechanism of the HHH syndrome and developing effective drugs against the disease. PMID: 22292090
4. novel mutations in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome PMID: 11668643
5. expression, reconstitution, functional characterization, and tissue distribution of two human isoforms PMID: 12807890
6. Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family. PMID: 14759633
7. The DeltaF 188 mutant was not incorporated into the membrane to the same extent as wild type, but retained significant residual activity and lost stereospecificity. PMID: 16256388
8. A novel R275X mutation of the SLC25A15 gene in a Japanese patient with the HHH syndrome PMID: 16376511
9. The three patients were homozygous for a novel mutation in ORNT1 with a Gly220Arg change. We suggest including HHH syndrome in the differential diagnosis of patients found to have stroke-like lesions on brain MRI. PMID: 17825324
10. Clinical presentations and outcomes varied significantly in HHH syndrome patients homozygous for delF188 mutations in SLC25A15. PMID: 18978333
11. 16 additional Hyperornithinemia-hyperammonemia-homocitrullinuria cases were collected and the spectrum of SLC25A15/ORC1 mutations, was expanded. PMID: 19242930

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HGNC: 10985

OMIM: 238970

KEGG: hsa:10166

STRING: 9606.ENSP00000342267

UniGene: Hs.646645