What does frataxin gene do?
Within cells, frataxin is found in energy-producing structures called mitochondria. Although its function is not fully understood, frataxin appears to help assemble clusters of iron and sulfur molecules that are critical for the function of many proteins, including those needed for energy production.
Is frataxin a mitochondrial protein?
The Friedreich ataxia gene (FRDA) encodes a small mitochondrial protein, frataxin, which is produced in insufficient amounts in the disease as a consequence of a GAA triplet repeat expansion in the first intron of the gene.
Why frataxin is important?
Frataxin, a highly conserved protein found in prokaryotes and eukaryotes, is required for efficient regulation of cellular iron homeostasis.
What chromosome is frataxin gene?
Frataxin
| FXN | ||
|---|---|---|
| Location (UCSC) | Chr 9: 69.04 – 69.08 Mb | Chr 19: 24.26 – 24.28 Mb |
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| Wikidata | ||
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What cellular process es are affected by loss of function mutations in the frataxin gene?
The precise cellular role of frataxin is not known; however, it is clear now that several mitochondrial functions are not performed correctly in patient cells. The affected functions include respiration, iron–sulfur cluster assembly, iron homeostasis, and maintenance of the redox status.
What chromosome is the frataxin gene on?
Frataxin
| FXN | ||
|---|---|---|
| Location (UCSC) | Chr 9: 69.04 – 69.08 Mb | Chr 19: 24.24 – 24.26 Mb |
| PubMed search | ||
| Wikidata | ||
| View/Edit Human View/Edit Mouse |
What chromosome is FXN on?
The region of chromosome 9 carrying the FXN gene is prone to chromosomal rearrangements in both control and Friedreich ataxia patient cells.
What chromosome is Fxn on?
Why does Frda increase ROS?
One proposed component of increased ROS sensitivity in FRDA patient cells is the accumulation of mitochondrial iron [79–84]. Based on Fenton chemistry, mitochondrial iron accumulation has the potential to dramatically increase susceptibility to ROS [84].
Is FXN short for function?
FA is now known to be an autosomal recessive trinucleotide repeat disorder, with the most common mutation being an expanded GAA triplet repeat in intron 1 on both alleles of FXN….FXN.
| Acronym | Definition |
|---|---|
| FXN | Function |
| FXN | Frataxin (genes) |
| FXN | Fox News |
| FXN | FF-XIII.net (Final Fantasy gaming website) |
What effect does the size of the GAA expansion have on the phenotype of FA?
The expanded GAA repeats cause an abnormal conformation of DNA and a decrease in transcription. The consequence is a reduction in the expression of the FXN gene and a decrease in the encoded protein, frataxin (51).
Why does FRDA increase ROS?