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SLC25A15 is a member of the mitochondrial carrier family. Additionally we are shipping SLC25A15 Antibodies (12) and many more products for this protein.
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Compares and contrasts all the known human SLC25A (show SLC25A25 Proteins)* genes and includes functional information.
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
Mutation analysis revealed two novel mutations in the ORNT1 gene.
Useful insights for in-depth understanding of the molecular mechanism of the HHH syndrome and developing effective drugs against the disease.
Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family.
A novel R275X mutation of the SLC25A15 gene in a Japanese patient with the HHH syndrome
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 (show C7ORF49 Proteins).
Clinical presentations and outcomes varied significantly in HHH syndrome patients homozygous for delF188 mutations in SLC25A15.
16 additional Hyperornithinemia-hyperammonemia-homocitrullinuria cases were collected and the spectrum of SLC25A15/ORC1 mutations, was expanded.
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.
mitochondrial ornithine transporter 1
, ornithine transporter) member 15
, ornithine transporter, mitochondrial 1
, solute carrier family 25 member 15
, ornithine transporter 1