Consequences of mutations and inborn errors of selenoprotein biosynthesis and functions.

Abstract excerpt

In its 200 years of history, selenium has been defined first as a toxic element and finally as a micronutrient. Selenium is incorporated into selenoproteins as selenocysteine (Sec), the 21st proteinogenic amino acid codified by a stop codon. Specific biosynthetic factors recode UGA stop codon as Sec. The significance of selenoproteins in human health is manifested through the identification of patients with...

Topics

• Genetic Predisposition to Disease
• Humans
• Metabolism, Inborn Errors
• Mutation
• Protein Biosynthesis
• Selenoproteins