NXN
Description
The NXN gene, located on chromosome 12, encodes for the protein ceruloplasmin, a key component in copper metabolism. Ceruloplasmin acts as a ferroxidase, oxidizing ferrous iron (Fe2+) to ferric iron (Fe3+). This process is crucial for iron transport and utilization. Additionally, ceruloplasmin binds to copper ions, preventing their accumulation and potential toxicity. The gene's role in copper regulation is critical for various physiological processes, including neuronal function, immune system response, and energy production.
Associated Diseases
- Wilson's disease: A genetic disorder characterized by copper accumulation in the liver, brain, and other organs, leading to neurological and hepatic dysfunction. Mutations in the NXN gene can contribute to this disease.
- Aceruloplasminemia: A rare autosomal recessive disorder caused by mutations in the NXN gene, resulting in a deficiency or absence of ceruloplasmin. This deficiency leads to iron accumulation in various tissues and can cause neurological complications, movement disorders, and diabetes.
- Menkes disease: A rare X-linked recessive disorder affecting copper metabolism. While not directly related to the NXN gene, Menkes disease highlights the importance of copper homeostasis for proper development and function.
Did you know?
Ceruloplasmin, the protein encoded by the NXN gene, is a blue-colored protein due to its high copper content. This unique characteristic contributes to its role in copper transport and regulation.
