《生命科学》 2017, 29(8): 769-772
摘 要:摘 要:硒蛋白N (selenoprotein N, SelN) 是Lescure 在1999 年应用生物信息学方法发现的一种硒蛋白,其广泛表达于内质网膜表面。SEPN1 基因突变能够造成多种神经肌肉遗传疾病,如肌肉无力、肌肉萎缩、脊柱强直和呼吸功能不全。目前研究发现,SelN 具有维持机体氧化还原水平、影响肌肉形成和调节钙稳态平衡等重要生物学作用。现对硒蛋白N 的结构特点、性质和生物功能以及与重大疾病的关系、研究进展及今后研究方向等进行了综述和展望。
Abstract: Abstract: Selenoprotein N (SelN) is a kind of selenoprotein discovered by Lescure in 1999. It is widely expressed on the surface of endoplasmic reticulum. SEPN1 gene mutations can cause a variety of genetic neuromuscular diseases, including muscle weakness, muscle atrophy, spinal rigidity and respiratory insufficiency. The present study found that SelN is required for maintaining the body oxidation-reduction levels, affecting muscle formation and regulation of calcium homeostasis and other important biological effects. In this paper, progress on the structural properties and biological functions of selenoprotein N, and its relationship with major diseases are reviewed and prospected.