Book a test
On this page
⚠ Educational content only Not medical or genetic advice. Speak with a healthcare provider or genetic counsellor before acting on anything here.

SELENON

selenoprotein N

The SELENON gene provides instructions for producing selenoprotein N, a protein important for muscle development and protecting cells from oxidative stress. SELENON encodes selenoprotein N, which plays a crucial role in cellular protection and muscle formation.

Chromosome 1p36.11 HGNC:15999 Tier C
SELENON 1p36.11 p arm q arm 1

SELENON is located on the short (p) arm of chromosome 1, at band 1p36.11. Arm ratio per GRCh38 - banding schematic.

Explore chromosome 1 in the library →

Available at Jeen Health

Clinical tests that include this

Carrier Screening panel
SELENON is 1 of 1,008 genes on this panel
Expanded carrier screening for recessive and X-linked conditions

Overview

The SELENON gene, also known as SEPN1, contains the genetic blueprint for selenoprotein N. This protein is a member of the selenoprotein family, which are vital for various bodily functions. These proteins are largely involved in oxidation-reduction reactions, which are essential for safeguarding cells against damage from unstable oxygen molecules.

What the gene does

Selenoprotein N is believed to be important for protecting cells against oxidative stress, a process where unstable molecules accumulate and can harm cells. It is highly active in various tissues before birth, suggesting its involvement in myogenesis, the formation of muscle tissue. The protein may also be crucial for normal muscle function after birth, although its activity levels are lower in adult tissues. Additionally, selenoprotein N is thought to contribute to maintaining appropriate calcium balance within cells, a process critical for muscle movement.

Video: Genetics 101

Chromosome location

The SELENON gene is situated on chromosome 1, specifically at position 1p36.11. This location indicates its position on the short arm of chromosome 1, within band 36.11.

Protein structure

The selenoprotein N comprises 590 amino acids. It features a Disordered region spanning amino acids 1-26 and an EF-hand domain located between amino acids 67-102. These structural elements are thought to contribute to its function.

Domain map · 590 amino acids
EF-hand (67–102)EF-hand67–1021~295590
Domain - independent functional unit
🧬 Explore 3D structure on AlphaFold
UniProt:Q9NZV5Length:590 aaStructure:AlphaFold

Key variants

Variations within the SELENON gene can affect the production or function of selenoprotein N. These genetic changes can lead to a range of muscle-related conditions due to the protein's role in muscle development and cellular protection.

The table below shows the top 10 pathogenic or likely-pathogenic variants currently classified in ClinVar for SELENON.
View all on ClinVar →

Sample of pathogenic variants

10 pathogenic / likely-pathogenic variants from ClinVar, ranked by review status (expert-panel-reviewed first). This is a sample; recurrent founder variants in a specific population may not appear here - see the full ClinVar listing via the link above.

Variant (HGVS) Protein change Classification Evidence Associated condition
c.1074_1075del
Deletion
 p.Glu360fs Pathogenic/Likely pathogenic ★★☆☆ Eichsfeld type congenital muscular dystrophy
c.1120G>T
single nucleotide variant
 p.Glu374Ter Pathogenic/Likely pathogenic ★★☆☆ Eichsfeld type congenital muscular dystrophy
c.1285+1G>A
single nucleotide variant
 - Pathogenic/Likely pathogenic ★★☆☆ Eichsfeld type congenital muscular dystrophy
c.1344del
Deletion
 p.Asn449fs Pathogenic/Likely pathogenic ★★☆☆ Eichsfeld type congenital muscular dystrophy
c.142del
Deletion
 p.Val48fs Pathogenic/Likely pathogenic ★★☆☆ Eichsfeld type congenital muscular dystrophy
c.2T>A
single nucleotide variant
 p.Met1Lys Pathogenic/Likely pathogenic ★★☆☆ Eichsfeld type congenital muscular dystrophy
c.541del
Deletion
 p.Gln181fs Pathogenic ★★☆☆ Eichsfeld type congenital muscular dystrophy
c.646-2_658del
Deletion
 - Pathogenic/Likely pathogenic ★★☆☆ Eichsfeld type congenital muscular dystrophy
c.69_76dup
Duplication
 p.Arg26fs Pathogenic ★★☆☆ Eichsfeld type congenital muscular dystrophy
c.715G>A
single nucleotide variant
 p.Gly239Arg Pathogenic/Likely pathogenic ★★☆☆ Eichsfeld type congenital muscular dystrophy

Evidence stars indicate ClinVar review status. Individual variant interpretation should always be performed by a qualified clinical laboratory - many variants remain classified as Variants of Uncertain Significance (VUS) pending more research.

Associated conditions

Changes in the SELENON gene are associated with several inherited muscle disorders. These include congenital fibre-type disproportion myopathy, which affects muscle development. Other conditions linked to SELENON variants include multiminicore disease and rigid spine muscular dystrophy 1, both characterised by muscle weakness and structural abnormalities within muscle fibres. Desmin-related myopathy with Mallory body-like inclusions has also been associated with SELENON gene mutations.

UK clinical status

The SELENON gene is included in several NHS England Genomic Medicine Service national test panels. These include panels for Arthrogryposis (R83), Congenital muscular dystrophy (R79), Congenital myopathy (R81), Foetal anomalies (R21), and Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies (R82). It is also part of the DDG2P panel.

Green-listed
High evidence · clinically actionable in NHS testing
Included in NHS GMS signed-off panels
Arthrogryposis · R83 NHS GMS → Congenital muscular dystrophy · R79 NHS GMS → Congenital myopathy · R81 NHS GMS → Fetal anomalies · R21 NHS GMS → Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies · R82 NHS GMS → DDG2P NHS GMS →
NHS Genomic Medicine Service Jeen carrier screening

Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory

Frequently asked questions

What is the primary function of selenoprotein N?

Selenoprotein N, encoded by the SELENON gene, is thought to play a key role in protecting cells from oxidative stress and is important for muscle development and function, including maintaining calcium balance within cells.

Which conditions are associated with variations in the SELENON gene?

Variations in the SELENON gene are linked to several inherited muscle disorders, such as congenital fibre-type disproportion myopathy, multiminicore disease, rigid spine muscular dystrophy 1, and desmin-related myopathy with Mallory body-like inclusions.

Is the SELENON gene part of any NHS genetic testing panels?

Yes, the SELENON gene is included in several NHS England Genomic Medicine Service national test panels, including those for Arthrogryposis, Congenital muscular dystrophy, Congenital myopathy, and Foetal anomalies.

References

  1. Ardissone A, Bragato C, Blasevich F. SEPN1-related myopathy in three patients: novel mutations and diagnostic clues. European journal of pediatrics. 2016. PMID: 26780752
  2. Castets P, Lescure A, Guicheney P. Selenoprotein N in skeletal muscle: from diseases to function. Journal of molecular medicine (Berlin, Germany). 2012. PMID: 22527882
  3. Castets P, Bertrand AT, Beuvin M. Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency. Human molecular genetics. 2011. PMID: 21131290
  4. Arbogast S, Beuvin M, Fraysse B. Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment. Annals of neurology. 2009. PMID: 19557870
  5. Schara U, Kress W, Bönnemann CG. The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 2008. PMID: 17951086
  6. Zorzato F, Jungbluth H, Zhou H. Functional effects of mutations identified in patients with multiminicore disease. IUBMB life. 2007. PMID: 17365175
  7. Jungbluth H. Multi-minicore Disease. Orphanet journal of rare diseases. 2007. PMID: 17631035
  8. Clarke NF, Kidson W, Quijano-Roy S. SEPN1: associated with congenital fiber-type disproportion and insulin resistance. Annals of neurology. 2006. PMID: 16365872
  9. Okamoto Y, Takashima H, Higuchi I. Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene. Neurogenetics. 2006. PMID: 16779558
  10. Ferreiro A, Ceuterick-de Groote C, Marks JJ. Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. Annals of neurology. 2004. PMID: 15122708
  11. Petit N, Lescure A, Rederstorff M. Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern. Human molecular genetics. 2003. PMID: 12700173
  12. Ferreiro A, Quijano-Roy S, Pichereau C. Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. American journal of human genetics. 2002. PMID: 12192640
  13. Moghadaszadeh B, Petit N, Jaillard C. Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Nature genetics. 2001. PMID: 11528383
Educational content. This page is not medical or genetic advice, is not individually reviewed by a clinician for each reader, and should not replace a consultation with a qualified healthcare professional or genetic counsellor. If you are considering genetic testing or acting on a test result, book a consultation.
Data sources Last updated 4 October 2026. Content compiled from HGNC · MedlinePlus Genetics · ClinGen · Genomics England PanelApp · NHS National Genomic Test Directory · ClinVar · UniProt · AlphaFold .