ISCU

This gene encodes a component of the iron-sulfur (Fe-S) cluster scaffold. Fe-S clusters are cofactors that play a role in the function of a diverse set of enzymes, including those that regulate metabolism, iron homeostasis, and oxidative stress response. Alternative splicing results in transcript variants encoding different protein isoforms that localize either to the cytosol or to the mitochondrion. Mutations in this gene have been found in patients with hereditary myopathy with lactic acidosis. A disease-associated mutation in an intron may activate a cryptic splice site, resulting in the production of a splice variant encoding a putatively non-functional protein. A pseudogene of this gene is present on chromosome 1. [provided by RefSeq, Feb 2016]

本基因编码铁硫（Fe-S）簇骨架的一个组成部分。Fe-S簇作为辅因子，在多种酶的功能中发挥着作用，包括调节代谢、铁稳态和氧化应激反应的酶。选择性剪接导致转录本变异，编码定位于细胞质或线粒体的不同蛋白质异构体。该基因中的突变已在患有遗传性肌病伴乳酸酸中毒的患者中发现。一个与疾病相关的内含子突变可能激活了一个隐匿的剪接位点，从而导致编码一个假定的非功能性蛋白质的剪接变体的产生。本基因的一个假基因存在于第1号染色体上。[由RefSeq提供，2016年2月]