SELO
The Selo Gene: Unraveling Its Role in Human Health
Description
The selenocysteine insertion sequence binding protein 2 (SBP2) gene, commonly known as the "selo gene," is an essential component of selenocysteine (Sec) synthesis. Sec is the 21st amino acid incorporated into proteins and plays crucial roles in various biological processes, including antioxidant defense, thyroid hormone metabolism, and immune function.
The selo gene encodes a protein that regulates the insertion of Sec into specific proteins. It binds to a specific RNA sequence within selenoprotein mRNAs, allowing for the incorporation of Sec at the appropriate codon. This process is essential for the production of functional selenoproteins, which are involved in a wide range of cellular functions.
Associated Diseases
Mutations in the selo gene have been linked to several genetic disorders, including:
- Keshan disease: A cardiomyopathy primarily seen in China, characterized by weakened heart muscle and heart failure, often associated with selenium deficiency.
- Myxedema: A condition resulting from hypothyroidism, causing swelling and thickening of the skin, hair loss, and mental impairment.
- Selenocysteine insertion sequence binding protein 2 deficiency: Also known as selenocysteine insertion sequence-binding protein 2 deficiency, this rare autosomal recessive disorder affects Sec incorporation into selenoproteins, leading to a variety of symptoms, including muscle weakness, cardiomyopathy, and developmental delay.
Did you Know ?
About 30% of the world's population is at risk of selenium deficiency, which can lead to impaired selenoprotein synthesis and an increased susceptibility to certain diseases.
