IBA57

The protein encoded by this gene localizes to the mitochondrion and is part of the iron-sulfur cluster assembly pathway. The encoded protein functions late in the biosynthesis of mitochondrial 4Fe-4S proteins. Defects in this gene have been associated with autosomal recessive spastic paraplegia-74 and with multiple mitochondrial dysfunctions syndrome-3. Two transcript variants encoding different isoforms have been found for this gene. The smaller isoform is not likely to be localized to the mitochondrion since it lacks the amino-terminal transit peptide. [provided by RefSeq, Jul 2015]

该基因编码的蛋白质定位于线粒体，并构成铁硫簇组装途径的一部分。编码的蛋白质在线粒体4Fe-4S蛋白质生物合成后期发挥功能。该基因的缺陷与常染色体隐性痉挛性截瘫74型以及多发性线粒体功能障碍综合征3型相关联。针对该基因已发现两种转录变体，分别编码不同的异构体。较小的异构体不太可能定位于线粒体，因为其缺乏氨基末端转运肽。该描述由RefSeq提供，发布于2015年7月。