TIMM8B - translocase of inner mitochondrial membrane 8 homolog B Gene

中文名称：线粒体内膜转位酶 8 同系物 B

种属: Homo sapiens

同用名: DDP2; TIM8B

关于 TIMM8B

功能概要

该基因编码一个与酵母 Tim 线粒体输入蛋白相似的保守蛋白家族成员。该基因由核基因编码，并被输送到线粒体的膜间隙。当形成复合物时，这些蛋白质在被添加到线粒体内膜之前引导跨膜蛋白质穿过线粒体膜间隙。该基因与琥珀酸脱氢酶 D 亚基 (SDHD) 相邻，已在患有遗传性副神经节瘤的受影响家族成员中发现突变。[RefSeq 提供，2009 年 8 月]

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]