Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
SLC25A15

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 [^]
9.

NCBI article

NCBI 10166 [^]
10.

OMIM.ORG article

Omim 603861 [^]
11.

Wikipedia article

Wikipedia EN (Ornithine_translocase) [^]
Update: April 29, 2019