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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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|---|---|---|---|
| Zygote |
100
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| Fetal organ |
98
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| Thyroid gland |
96
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| Duodenum |
92
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| Small intestine |
90
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| Penis |
88
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|---|---|---|---|
| Formic Aldehyde |
100
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| Propiconazole |
91
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| Otoline |
89
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| Kinetin |
89
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| Heptaminol |
82
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| Triadimefon |
78
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|
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|---|---|---|---|
| Hyperornithinemia |
100
|
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| Cholangiocarcinoma o… |
100
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| Triploidy |
91
|
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| Anomaly of chromosom… |
90
|
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| Hepatitis C |
78
|
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| Neoplasm of liver |
71
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Individual Studies |
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Authors: Alessandra Tessa, Giuseppe Fiermonte, Carlo Dionisi-Vici, Eleonora Paradies, Matthias R Baumgartner, Yin-Hsiu Chien, Carmela Loguercio, Helene Ogier de Baulny, Marie-Cecile Nassogne, Manuel Schiff,…
Human mutation 2009 MayAuthors: F-G Debray, M Lambert, B Lemieux, J F Soucy, R Drouin, D Fenyves, J Dubé, B Maranda, R Laframboise, G A Mitchell
Journal of medical genetics 2008 NovThought leaders and organizations working on research involving SLC25A15.
conditions: Brain Diseases, Metabolic, Inborn ; Amino Acid Metabolism, Inborn Errors ; Urea Cycle Disorders
interventions: none