Frataxin (F4V2S) Rabbit mAb

Product Usage Information

Storage

Specificity / Sensitivity

Species Reactivity:

Human, Mouse

Source / Purification

Monoclonal antibody is produced by immunizing animals with recombinant protein specific to the carboxy terminus of human frataxin protein.

Background

Frataxin is a highly conserved, ubiquitously expressed mitochondrial protein implicated in iron-sulfide cluster (ISC) assembly and iron homeostasis. Synthesized as a cytosolic 210 amino acid precursor protein, frataxin undergoes a two-step proteolytic maturation before translocating to the mitochondria (1). The functions of frataxin in the mitochondria have yet to be fully elucidated, though it has been suggested to be an iron chaperone and activator of persulfide transfer from the cysteine desulfurase NFS1 to the scaffold protein ISCU, which occurs in the early stages of ISC assembly. Proper expression levels of frataxin are vital for cell survival, as is highlighted by the fact that complete loss of this protein is embryonically lethal in mice. In humans, the expansion of GAA repeats in the first intron of the frataxin gene (FXN) results in a reduction in its protein expression levels, leading to the development of  Friedreich’s ataxia (FRDA). FRDA is an early-onset neurodegenerative disorder and the most common inherited form of ataxia, affecting 1 in 50,000 people. The downregulation of frataxin in FRDA results in mitochondrial iron and reactive oxygen species (ROS) accumulation, mitochondrial dysfunction, and ferroptosis. Patients with FRDA present with a myriad of symptoms, including gait disturbances, cardiomyopathy, muscle weakness, and increased incidence of diabetes. Individuals with higher GAA repeats exhibit more severe and earlier onset of symptoms (2-4).