基因名:
SLC25A13
产品别名:
ARALAR2; CITRIN; CTLN2; NICCD; SLC25A13; solute carrier family 25 member 13; solute carrier family 25 member 13; calcium-binding mitochondrial carrier protein Aralar2; citrullinemia type II; mitochondrial aspartate glutamate carrier 2; solute carrier family 25 (aspartate/glutamate carrier), member 13; 溶质载体家族25成员13(SLC25A13); 线粒体内钙结合天冬氨酸/谷氨酸载体蛋白;
背景信息:
SLC25A13 is a member of the mitochondrial carrier family. It contains four EF-hand Ca(2+) binding motifs in the N-terminal domain, and localizes to mitochondria. It 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 the SLC25A13 gene result in citrullinemia, type II. Multiple transcript variants encoding different isoforms have been found for this gene.