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硒蛋白N(selenoprotein N,Sel N)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,Sel N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。
Selenoprotein N (Sel N) is a kind of selenoprotein discovered by Lescure in 1999 by bioinformatics method, which is widely expressed on the surface of endoplasmic reticulum. Mutations in the SEPN1 gene can cause a variety of neuromuscular genetic disorders such as muscle weakness, muscle wasting, spine stiffness, and respiratory insufficiency. The present study found that Sel N has the important biological role of maintaining body redox level, affecting muscle formation and regulating calcium homeostasis. The structural features, biological properties and biological functions of selenoprotein N, the relationship with major diseases, research progress and future research directions are summarized and prospected.