Solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
The SLC25A15 gene encodes a member of the mitochondrial carrier family. It is an important component of the urea cycle. Mutations cause autosomal recessive HHH syndrome.
Genetests:
Research |
Method |
Carrier testing |
Turnaround |
5 days |
Specimen type |
genomic DNA |
Related Diseases:
References:
1. |
Camacho JA et al. (1999) Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter.
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2. |
Miyamoto T et al. (2001) Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X.
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3. |
Salvi S et al. (2001) Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
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4. |
Debray FG et al. (2008) Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15.
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5. |
Tessa A et al. (2009) Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.
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6. |
Nakajima M et al. (1988) Clinical, biochemical and ultrastructural study on the pathogenesis of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
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7. |
Tsujino S et al. (2000) Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.
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8. |
Orphanet article
Orphanet ID 118789
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9. |
NCBI article
NCBI 10166
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10. |
OMIM.ORG article
Omim 603861
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11. |
Wikipedia article
Wikipedia EN (Ornithine_translocase)
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Update: Aug. 14, 2020