Aliases for SLC25A13 Gene
External Ids for SLC25A13 Gene
Previous HGNC Symbols for SLC25A13 Gene
Previous GeneCards Identifiers for SLC25A13 Gene
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. [provided by RefSeq, May 2009]
GeneCards Summary for SLC25A13 Gene
SLC25A13 (Solute Carrier Family 25 Member 13) is a Protein Coding gene. Diseases associated with SLC25A13 include Citrullinemia, Type Ii, Neonatal-Onset and Citrullinemia, Adult-Onset Type Ii. Among its related pathways are Metabolism of proteins and Glycosaminoglycan metabolism. GO annotations related to this gene include calcium ion binding and L-glutamate transmembrane transporter activity. An important paralog of this gene is SLC25A12.
UniProtKB/Swiss-Prot for SLC25A13 Gene
Catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane. May have a function in the urea cycle.