FDXR

The gene FDXR encodes the protein ferredoxin reductase, also known as thioredoxin reductase, which is a critical enzyme in the mitochondria. It functions as a flavoprotein, participating in the reduction of ferredoxin and the oxidation of thioredoxin, thereby regulating the redox state of the cell. FDXR is involved in the biogenesis of iron-sulfur clusters, which are essential for various cellular processes, including electron transport along the mitochondrial respiratory chain and gene expression regulation. Its dysfunction has been linked to several diseases, such as syndromic optic neuropathy, retinal dystrophy, and neurodegenerative disorders. Research into FDXR mutations has led to advancements in understanding these conditions and has sparked interest in potential therapeutic approaches, including iron chelation and antioxidant therapies.
Recent studies have expanded the understanding of FDXR's role in diseases like adrenal insufficiency and atypical sexual development, highlighting its importance in steroidogenesis. This has opened new avenues for drug development, with research focusing on compounds that can modulate FDXR activity or restore iron homeostasis, potentially leading to novel treatments for FDXR-related disorders.