SLC25A13 Back

solute carrier family 25, member 13 (citrin)

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NCBI Description of SLC25A13

This gene is a member of the mitochondrial carrier family. The encoded protein contains four EF-hand Ca(2+) binding motifs in the N-terminal domain, and localizes to mitochondria. The protein catalyzes the exchange of aspartate for glutamate and a proton across the inner mitochondrial membrane, and is stimulated by calcium on the external side of the inner mitochondrial membrane. Mutations in this gene result in citrullinemia, type II. Multiple transcript variants encoding different isoforms have been found for this gene.

Community Annotation of SLC25A13 Add / Edit SLC25A13: 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

SLC25A13 is highly significantly mutated in
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SLC25A13 is significantly mutated in
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SLC25A13 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 SLC25A13