FDXR
Description
The FDXR gene, located on chromosome 10, encodes for a protein called ferredoxin reductase. This protein is a vital component of the cytochrome P450 system, which plays a crucial role in the metabolism of various substances, including steroid hormones. FDXR is particularly important for the biosynthesis of cortisol, a key hormone involved in stress response, blood sugar regulation, and inflammation. It facilitates the transfer of electrons within the cytochrome P450 system, ensuring the proper functioning of these essential metabolic pathways.
Associated Diseases
- Congenital adrenal hyperplasia (CAH): Mutations in the FDXR gene can cause a deficiency in cortisol production, leading to CAH, a condition characterized by excessive androgen production and other hormonal imbalances.
- Steroid hormone deficiency: Impaired FDXR function can disrupt the production of various steroid hormones, potentially leading to hormonal imbalances and related symptoms.
Did you know?
FDXR is involved in the biosynthesis of aldosterone, a hormone crucial for regulating blood pressure and sodium balance.