Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin
Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin
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DOI：
10.1126/science.276.5319.1709
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发表时间：
1997-06-13
期刊：
影响因子：
56.9
通讯作者：
Kaplan, J
中科院分区：
文献类型：
--
作者：
Babcock, M;deSilva, D;Kaplan, J
弗里德赖希共济失调是一种以神经变性和心肌病为特征的疾病，其基因最近被克隆，其产物被命名为共济失调蛋白。鉴定了酿酒酵母中的一个基因，其预测的蛋白产物与人共济蛋白具有高度的序列相似性。酵母基因（酵母共济失调蛋白同源物，YFH 1）编码一种参与铁稳态和呼吸功能的线粒体蛋白。人类共济失调蛋白也被证明是一种线粒体蛋白。描述YFH 1调节酵母铁稳态的机制可能有助于确定导致弗里德赖希共济失调细胞损伤的病理过程。
The gene responsible for Friedreich's ataxia, a disease characterized by neurodegeneration and cardiomyopathy, has recently been cloned and its product designated frataxin. A gene in Saccharomyces cerevisiae was characterized whose predicted protein product has high sequence similarity to the human frataxin protein. The yeast gene (yeast frataxin homolog, YFH1) encodes a mitochondrial protein involved in iron homeostasis and respiratory function. Human frataxin also was shown to be a mitochondrial protein. Characterizing the mechanism by which YFH1 regulates iron homeostasis in yeast may help to define the pathologic process leading to cell damage in Friedreich's ataxia.