Editing Solute Carrier Family 25 Member 13(SLC25A13)

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Summary	Citrin 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.SLC25A13, which was found to encode a 675-amino acid protein with a molecular mass of 74 kD. The protein, termed citrin, is bipartite in structure, containing a mitochondrial carrier motif and 4 EF-hand domains. Northern blot analysis detected ubiquitous expression of a 3.4-kb transcript, with highest expression in liver.
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