frataxin
Frataxin is a mitochondrial protein that plays a crucial role in cellular energy production. It is encoded by the FXN gene in humans. The primary function of frataxin is to assist in the assembly of iron-sulfur clusters (ISCs), which are essential cofactors for a variety of enzymes involved in critical cellular processes, including DNA repair, cellular respiration, and heme biosynthesis.
Deficiency in frataxin protein leads to impaired mitochondrial iron homeostasis. This imbalance results in the accumulation
The most well-known condition associated with frataxin deficiency is Friedreich's ataxia (FA). FA is a rare,