菜单 基因医生

这个基因编码的蛋白质被认为是一个复合物的一部分，参与了含有转运肽的蛋白质从细胞内膜到线粒体基质的ATP依赖性运输该基因的缺陷是3-甲基谷氨酸尿症5型（MGA5）的原因，也称为扩张型心肌病伴共济失调（DCMA）。该基因的选择性剪接导致多个转录变体。在1、2、6、10、14和19号染色体上发现了相关的假基因。[由RefSeq提供，2012年1月]
The protein encoded by this gene is thought to be part of a complex involved in the ATP-dependent transport of transit peptide-containing proteins from the inner cell membrane to the mitochondrial matrix. Defects in this gene are a cause of 3-methylglutaconic aciduria type 5 (MGA5), also known as dilated cardiomyopathy with ataxia (DCMA). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1, 2, 6, 10, 14 and 19. [provided by RefSeq, Jan 2012]