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SELENON gene

Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SELENON gene

The SELENON gene provides instructions for making selenoprotein N, a protein essential for muscle development and protection against cellular oxidative stress.

Normal Function

The SELENON gene (also called SEPN1) provides instructions for making a protein called selenoprotein N. This protein is part of a family of selenoproteins, which have several critical functions within the body. Selenoproteins are primarily involved in chemical reactions called oxidation-reduction reactions, which are essential for protecting cells from damage caused by unstable oxygen-containing molecules. Although the exact function of selenoprotein N is unknown, it is likely involved in protecting cells against oxidative stress, which occurs when unstable molecules called free radicals accumulate to levels that damage or kill cells.

Selenoprotein N is highly active in many tissues before birth and may be involved in the formation of muscle tissue (myogenesis). The protein may also be important for normal muscle function after birth, although it is active at much lower levels in adult tissues. This protein is thought to play a role in maintaining an appropriate balance of calcium (calcium homeostasis) in cells, which is vital for muscle movement.

Health Conditions Related to Genetic Changes

Multiminicore disease

At least 17 mutations in the SELENON gene have been identified in people with the classic form of multiminicore disease. This condition is named for a distinctive abnormality in the muscle fibers called minicores. Affected individuals typically experience:

  • Muscle weakness, particularly in the muscles of the torso and neck (axial muscles)
  • Abnormal curvature of the spine (scoliosis)
  • Serious breathing problems

Rigid spine muscular dystrophy

More than a dozen SELENON gene mutations have been found to cause rigid spine muscular dystrophy 1 (RSMD1). In this disorder, the muscles surrounding the spine weaken and waste away (atrophy), and the joints in the spine develop deformities called contractures that restrict movement. Affected children often have limited ability to move their heads, develop scoliosis, and experience serious breathing problems during sleep.

Congenital fiber-type disproportion

Mutations in the SELENON gene are also associated with congenital fiber-type disproportion.

Other disorders

Mutations in the SELENON gene are involved in a rare muscle disorder called desmin-related myopathy with Mallory body-like inclusions. This disorder is characterized by small clusters of accumulated proteins in muscle fibers. Because these conditions share similar signs and symptoms—including axial muscle weakness, spine stiffness, scoliosis, and breathing problems—they are collectively known as SELENON-related (or SEPN1-related) myopathy.

Other Names for This Gene

  • selenoprotein N, 1
  • SELN
  • SEPN1
  • SEPN1_HUMAN

Frequently Asked Questions

Mutations in the SELENON gene can lead to conditions such as multiminicore disease and rigid spine muscular dystrophy. Common symptoms include significant muscle weakness, especially in the torso and neck (axial muscles), abnormal curvature of the spine (scoliosis), and serious breathing difficulties. Muscle biopsies may show distinctive abnormalities called minicores.
Selenoprotein N is part of a family of proteins that protect cells from damage caused by unstable molecules called free radicals, a process known as oxidative stress. While its exact function is still being studied, it's thought to be crucial for forming muscle tissue before birth and maintaining proper muscle function afterward, potentially by helping to regulate calcium balance within muscle cells.
Individuals with conditions like multiminicore disease or rigid spine muscular dystrophy due to SELENON gene mutations often require multidisciplinary care. This can include regular monitoring of respiratory function, physical therapy to manage muscle weakness and maintain mobility, orthopedic management for scoliosis, and nutritional support. The specific care plan will depend on the severity and progression of symptoms.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.