PMID:9180083

Citation	Babcock, M, de Silva, D, Oaks, R, Davis-Kaplan, S, Jiralerspong, S, Montermini, L, Pandolfo, M and Kaplan, J (1997) Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin. Science 276:1709-12
Abstract	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.
Links	PubMed
Keywords	Biological Transport; Carrier Proteins/metabolism; Cell Membrane/metabolism; Ceruloplasmin; Cytosol/metabolism; Friedreich Ataxia/metabolism; Fungal Proteins/genetics; Fungal Proteins/metabolism; Genes, Fungal; Genetic Complementation Test; Homeostasis; Humans; Iron/metabolism; Iron-Binding Proteins; Membrane Transport Proteins/metabolism; Mitochondria/metabolism; Oxidative Stress; Oxidoreductases/metabolism; Phosphotransferases (Alcohol Group Acceptor)/metabolism; Recombinant Fusion Proteins/metabolism; Saccharomyces cerevisiae/genetics; Saccharomyces cerevisiae/growth & development; Saccharomyces cerevisiae/metabolism; Saccharomyces cerevisiae Proteins; Transformation, Genetic
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