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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.
|Status: Published||Type: Journal Article||PubMed ID: 9180083|
Topics addressed in this paper
Number of different genes curated to this paper: 4
- To go to the Locus page for a gene, click on the gene name.
|Disease Gene Related|
|DNA/RNA Sequence Features|
|Non-Fungal Related Genes/Proteins|
|Protein Sequence Features|