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SLC25A15 is a member of the mitochondrial carrier family. Additionally we are shipping SLC25A15 Antibodies (16) and and many more products for this protein.
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Includes the study of an upstream ORF in this gene, and shows that it functions to reduce protein levels by ~55%.
Structure/function relationships of the human mitochondrial ornithine/citrulline carrier by Cys site-directed mutagenesis. Relevance to mercury toxicity.
Compares and contrasts all the known human SLC25A* 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.
novel mutations in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome
expression, reconstitution, functional characterization, and tissue distribution of two human isoforms
Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family.
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.
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.
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, mitochondrial 1
, solute carrier family 25 member 15
, ornithine transporter 1
, ornithine transporter) member 15
, ornithine transporter) member 15a
, solute carrier family 25 (mitochondrial carrier
, solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15