FDX2

FDX2 (Ferredoxin 2), also known as Adrenodoxin, mitochondrial, is a protein that in humans is encoded by the FDX2 gene. This protein plays a crucial role in the mitochondrial electron transport chain, where it is involved in the transfer of electrons from NADPH to cytochrome P450 enzymes. These enzymes are involved in the synthesis of steroid hormones, detoxification, and the metabolism of drugs in the liver. The FDX2 gene is located on chromosome 19 in humans.

Function

The primary function of FDX2 is to mediate electron transfer within the mitochondria. It accepts electrons from NADPH via ferredoxin reductase and then transfers these electrons to various cytochrome P450 enzymes. This process is essential for the biosynthesis of steroid hormones such as cortisol, aldosterone, and sex steroids. Additionally, FDX2 is involved in the metabolism of xenobiotics, which are foreign substances to the body, including drugs and toxins.

Clinical Significance

Mutations in the FDX2 gene have been associated with several diseases. Deficiencies in FDX2 can lead to disorders in steroidogenesis, resulting in symptoms related to adrenal insufficiency and potentially affecting sexual development. Furthermore, alterations in the function of FDX2 may influence the metabolism of drugs and the body's response to them, which has implications for pharmacogenomics and personalized medicine.

Genetic

The FDX2 gene is located on the long (q) arm of chromosome 19 at position 13.2, from base pair 35,897,971 to base pair 35,902,203. The gene consists of several exons that encode the FDX2 protein. Variants within this gene or its regulatory regions may affect the expression or function of FDX2, leading to disease.

See Also

• Cytochrome P450
• Mitochondrial electron transport chain
• Steroidogenesis
• Adrenal insufficiency
• Pharmacogenomics

External Links

• NCBI Gene: FDX2

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