Human Genetic Disorders Resulting in Systemic Selenoprotein Deficiency.

Abstract excerpt

Selenium, a trace element fundamental to human health, is incorporated as the amino acid selenocysteine (Sec) into more than 25 proteins, referred to as selenoproteins. Human mutations in SECISBP2, SEPSECS and TRU-TCA1-1, three genes essential in the selenocysteine incorporation pathway, affect the expression of most if not all selenoproteins. Systemic selenoprotein deficiency results in a complex, multifactorial...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Amino Acid Metabolism, Inborn Errors
• Share to Amino Acyl-tRNA Synthetases