SLC25A15 Back

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

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NCBI Description of SLC25A15

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. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

Community Annotation of SLC25A15 Add / Edit SLC25A15: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

SLC25A15 is highly significantly mutated in
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SLC25A15 is significantly mutated in
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SLC25A15 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


Mutation list for SLC25A15