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solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15

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.

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Data Correlations | 1,309 studies

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Individual Studies
  • OMIM - Congenital disorder

    score: 100100 | Homo sapiens Homo sapiens | Mutations/Phenotypic   Mutations/Phenotypic

    This study contains curated human phenotype data extracted from OMIM. Additional computational processing and curation of the phenotype data was performed to further organize and group data from related phenotypes into unifying disease categories.

    Source: NextBio Library/Mutation and Phenotypic data

  • Myclobutanil, propiconazole and triadimefon mid-dose and high-dose effects in rat liver

    score: 9999 | Rattus norvegicus Rattus norvegicus | RNA Expression   RNA Expression

    The modes of triazole reproductive toxicity have been characterized by an observed increased in serum testosterone and reduced insemination and fertility indices. The key events involved in the disruption in testosterone homeostasis and reduced fertility remain unclear. Gene expression analysis was …

    Authors: Dix J David, Goetz K Amber

    Organization: US EPA ORD/NCCT 109 TW Alexander Drive R…

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Thought leaders and organizations working on research involving SLC25A15.

  • C Dionisi-Vici
  • José A Camacho
  • F M Santorelli
  • Natalia Rioseco-Camacho
  • María de la Paz Sanchez
  • Office of Rare Diseases (ORD)
  • National Cancer Center Research Institute
  • Istituto di Ricovero e Cura a Carattere Scientifico Children's Hospita…
  • Centre Hospitalier Universitaire Sainte-Justine
  • Institute of Human Genetics
  • Vanderbilt University Medical Center

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