Selenoprotein N (SELENON)

Selenoprotein N (SELENON, formerly SEPN1) is a type II transmembrane selenoprotein of the endoplasmic reticulum predominantly involved in oxidative stress protection and calcium homeostasis, particularly in developing muscle tissue[1][2][3][4]. Selenoprotein N features a unique calcium-binding EF-hand domain and acts as a redox enzyme that modulates ER calcium stores via interaction with the SERCA2 pump[3]. Pathogenic mutations in the SELENON gene cause several congenital muscular dystrophies, including rigid spine muscular dystrophy and multiminicore disease, typically characterized by early-onset muscle weakness, scoliosis, and respiratory impairment[1][2][4]. SELENON is not considered a classic therapeutic target (e.g., receptor, enzyme, transporter); rather, it is essential for normal muscle development and function, and alterations lead to clinical disease states[1][2].

Other names

SEPN1SelNSELNRSMD1Rigid spine muscular dystrophy 1 proteinMultiminicore disease proteinCFTDCMYO3CMYP3MDRS1RSSselenoprotein N1