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.

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.

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.

The FXN gene provides instructions for making a protein called frataxin. This protein is found in cells throughout the body, with the highest levels in the heart, spinal cord, liver, pancreas, and muscles used for voluntary movement (skeletal muscles). Within cells, frataxin is found in energy-producing structures called mitochondria.

Dec 8, 2023 · 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...

Dec 25, 2024 · This nuclear gene encodes a mitochondrial protein which belongs to the FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA from 8-33 repeats to >90 repeats results in Friedreich ataxia.

Frataxin is an important iron regulatory protein whose reduced expression is responsible for Friedreich's Ataxia (FA), the most common inherited ataxia (Pandolfo, 2008). FA is caused by mutations in the frataxin gene, most commonly by homozygous GAA triplet nucleotide repeats in a non-coding intron.

Frataxin is a small, evolutionary conserved protein produced as a 210 amino acid precursor and cleaved into the mature 130 amino acid form upon import to the mitochondria. 22 Ubiquitously expressed FXN participates in the biosynthesis of iron/sulfur clusters in the mitochondrial matrix, and its complete knockout is early embryonic lethal. 22 ...

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 expression of frataxin. Frataxin participates in the ...

Feb 20, 2021 · Frataxin is a mitochondrial protein which deficiency causes Friedreich’s ataxia, a cardio-neurodegenerative disease. The lack of frataxin induces the dysregulation of mitochondrial iron homeostasis and oxidative stress, which finally causes the neuronal death.