SEPN1

SEPN1, also known as selenoprotein N, is a protein encoded by the SEPN1 gene. This gene is found in humans and other mammals, and its protein product is involved in various cellular processes. Selenoproteins are a group of proteins that contain the amino acid selenocysteine, which is unusual and requires specific genetic machinery for its incorporation. SEPN1 is a critical component of the cellular antioxidant defense system.

The SEPN1 protein is primarily located in the endoplasmic reticulum, a cellular organelle involved in protein synthesis and modification. Its function is thought to be related to maintaining the proper folding and function of proteins within the endoplasmic reticulum, particularly under conditions of oxidative stress. Oxidative stress occurs when there is an imbalance between the production of reactive oxygen species and the ability of the body to detoxify them.

Mutations in the SEPN1 gene have been linked to a group of inherited neuromuscular disorders known as congenital muscular dystrophies. These conditions are characterized by muscle weakness and degeneration that are present from birth or early infancy. The specific mutations in SEPN1 can lead to a loss of function or altered function of the selenoprotein N, disrupting muscle development and maintenance. Research continues to explore the precise mechanisms by which SEPN1 deficiency causes these debilitating conditions.