Frataxin Antibody
Description
Product Specs
Product Science Overview
Frataxin is a mitochondrial protein that plays a crucial role in iron homeostasis and iron-sulfur cluster (ISC) biosynthesis. Deficiency in frataxin leads to Friedreich’s ataxia (FRDA), a progressive neurodegenerative disorder characterized by gait and limb ataxia, cardiomyopathy, and increased incidence of diabetes . The “Mouse Anti Human Frataxin” antibody is used in research to study the expression and function of human frataxin in various experimental models, including mouse models.
Friedreich’s ataxia is caused by mutations in the FXN gene, which encodes the frataxin protein. The most common mutation is a GAA trinucleotide repeat expansion in the first intron of the FXN gene, leading to reduced expression of frataxin . The deficiency of frataxin results in mitochondrial dysfunction, oxidative stress, and neurodegeneration .
Frataxin is involved in several critical cellular processes:
- Iron Homeostasis: Frataxin acts as an iron chaperone, facilitating the proper distribution and storage of iron within the mitochondria .
- Iron-Sulfur Cluster Biosynthesis: Frataxin is essential for the biosynthesis and repair of iron-sulfur clusters, which are vital cofactors for various mitochondrial enzymes .
- Heme Biosynthesis: Frataxin also plays a role in heme biosynthesis, which is crucial for oxygen transport and cellular respiration .
Mouse models are extensively used to study the pathophysiology of Friedreich’s ataxia and to test potential therapeutic approaches. These models include:
The “Mouse Anti Human Frataxin” antibody is a monoclonal antibody specifically designed to detect human frataxin in various experimental settings. This antibody is used in:
- Western Blotting: To detect and quantify frataxin protein levels in tissue samples.
- Immunohistochemistry: To visualize the localization of frataxin within cells and tissues.
- Immunoprecipitation: To isolate frataxin protein complexes for further analysis.
