菜单 基因医生

该基因编码一个与酵母Tim线粒体导入蛋白相似的保守蛋白家族成员这个基因由一个核基因编码，并被运输到线粒体的膜间空间。当这些蛋白质形成复合物时，它们引导跨膜蛋白穿过线粒体膜间空间，然后再将其添加到线粒体内膜中。该基因与琥珀酸脱氢酶d亚单位（sdhd）相邻，在该亚单位中，在遗传性副神经节瘤家族的受影响成员中发现了突变。
This gene encodes a member of a well-conserved family of proteins with similarity to yeast Tim mitochondrial import proteins. This gene is encoded by a nuclear gene and is transported into the intermembrane space of the mitochondrion. When formed into complexes, these proteins guide membrane-spanning proteins across the mitochondrial intermembrane space before they are added into the mitochondrial inner membrane. This gene is adjacent to succinate dehydrogenase, subunit D (SDHD), in which mutations have been found in affected members of families with hereditary paraganglioma.[provided by RefSeq, Aug 2009]