SELENON : selenoprotein N

Description

The SELENON (selenoprotein N) is a protein-coding gene located on chromosome 1.

The SELENON gene (also known as SEPN1) provides instructions for making selenoprotein N, a member of the selenoprotein family. Selenoproteins play crucial roles in oxidation-reduction reactions, protecting cells from damage caused by unstable oxygen-containing molecules. While the exact function of selenoprotein N is unknown, it likely protects cells against oxidative stress, which occurs when free radicals accumulate, damaging or killing cells. Selenoprotein N is highly active in many tissues before birth and may be involved in muscle tissue formation (myogenesis). It might also be important for normal muscle function after birth, although its activity is much lower in adult tissues. This protein is thought to play a role in maintaining appropriate calcium levels (calcium homeostasis) in cells, which is essential for muscle movement.

Isoform 2 plays a crucial role in safeguarding cells against oxidative stress and regulating calcium homeostasis in a redox-dependent manner. It protects the calcium pump ATP2A2 within the endoplasmic reticulum (ER) from oxidative damage caused by the oxidoreductase ERO1A. ERO1A increases the concentration of hydrogen peroxide (H2O2) in the ER, leading to the formation of sulfenic acid (-SOH) on the luminal thiols of ATP2A2. SEPN1 reduces the SOH back to free thiol (-SH), restoring ATP2A2 activity. SEPN1 acts as a modulator of ryanodine receptor (RyR) activity by protecting RyR from oxidation due to elevated oxidative stress or directly regulating the RyR redox state. This regulation of RyR-mediated calcium mobilization is essential for normal muscle development and differentiation. (PubMed:18713863, PubMed:19557870, PubMed:25452428)

SELENON is also known as CFTD, CMYO3, CMYP3, MDRS1, RSMD1, RSS, SELN, SEPN1.

Associated Diseases

Comprehensive carrier screening