Aliases for SLC25A13 Gene
External Ids for SLC25A13 Gene
Previous Symbols 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 (Aspartate/Glutamate Carrier), Member 13) is a Protein Coding gene. Diseases associated with SLC25A13 include failure to thrive and dyslipidemia caused by citrin deficiency and neonatal intrahepatic cholestasis due to citrin deficiency. Among its related pathways are Metabolism and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. GO annotations related to this gene include calcium ion binding and L-glutamate transmembrane transporter activity. An important paralog of this gene is SLC25A22.
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.