检测编号：NS0470120

基因 SLC25A13 与疾病

SLC25A13基因指导合成一种叫做维生素P（citrin)的蛋白质，在肝脏、肾脏和心脏细胞线粒体中存在，在天冬氨酸穿梭过程中发生重要作用。已发现20多种突变，该基因突变导致不能合成正常的维生素P，影响相关器官能量供应和天冬氨酸降解，形成损害。

基因名称	基因全名	基因位置	外显子个数	CDS长度
SLC25A13	solute carrier family 25 (aspartate/glutamate carrier), member 13	7q21.3	18	约3193 bp
基因摘要	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].