Frataxin is a protein that in humans is encoded by the FXN gene. [5] [6] It is located in the mitochondrion and Frataxin mRNA is mostly expressed in tissues with a high metabolic rate. The function of frataxin is not clear but it is involved in assembly of iron-sulfur clusters.

弗里德赖希共济失调 (Friedreich’s ataxia)是一种罕见的常染色体隐性遗传疾病，由编码Frataxin (FXN)基因的第一个内含子上的GAA三联密码子重复扩展突变所导致。FXN是一种主要位于线粒体基质的蛋白, 其功能与线粒体内铁硫簇的合成密切相关，因此该病患者表现出典型 ...

Friedreich 共济失调 (FRDA) 是一种罕见的遗传性神经退行性疾病，由FXN基因第一个内含子中 GAA 重复扩增引起，导致转录沉默和 frataxin 表达减少。 Frataxin 参与 FeS 簇（呼吸复合物 I、II 和 III 的氧化还原辅助因子）的线粒体组装。

Frataxin, a conserved protein found ubiquitously in prokaryotes and eukaryotes, is required for the cellular regulation of iron homeostasis. Although of extreme interest to many chemists and biologists alike, frataxin’s exact role in helping cells regulate iron chemistry and metal availability remains controversial at best.

Frataxin is a highly conserved iron-binding protein present in most organisms. Despite the intense interest generated since the determination of its pathology, identification of the cellular function of frataxin has so far remained elusive.

2024年12月25日 · Complete information for FXN gene (Protein Coding), Frataxin, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium New to GeneCards?

2023年12月8日 · Friedreich ataxia (FRDA) is a rare, inherited neurodegenerative disease caused by an expanded GAA repeat in the first intron of the FXN gene, leading to transcriptional silencing and reduced...

2014年10月6日 · 在线粒体铁代谢中，frataxin的作用尚未全部弄清，但可能调节线粒体处理铁，从而防止铁产生氧化压力。 frataxin可能作为铁分子伴侣，参与铁硫簇与血红素的生物合成。

frataxin 定 义 含210个氨基酸残基的蛋白质，发现于弗里德赖希(Friedreich s)共济失调症，其基因在某些患者体内发生点突变，但大多数为第一个内含子中出现不稳定GAA三核苷酸扩增的纯合子。

2013年7月17日 · Frataxin is a highly conserved iron-binding protein present in most organisms. Despite the intense interest generated since the determination of its pathology, identification of the cellular function of frataxin has so far remained elusive.