Gene: SELENON

Alternate names for this Gene: CFTD|MDRS1|RSMD1|RSS|SELN|SEPN1

Gene Summary: This gene encodes a glycoprotein that is localized in the endoplasmic reticulum. It plays an important role in cell protection against oxidative stress, and in the regulation of redox-related calcium homeostasis. Mutations in this gene are associated with early onset muscle disorders, referred to as SEPN1-related myopathy. SEPN1-related myopathy consists of 4 autosomal recessive disorders, originally thought to be separate entities: rigid spine muscular dystrophy (RSMD1), the classical form of multiminicore disease, desmin related myopathy with Mallory-body like inclusions, and congenital fiber-type disproportion (CFTD). This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. A second stop-codon redefinition element (SRE) adjacent to the UGA codon has been identified in this gene (PMID:15791204). SRE is a phylogenetically conserved stem-loop structure that stimulates readthrough at the UGA codon, and augments the Sec insertion efficiency by SECIS. Alternatively spliced transcript variants have been found for this gene.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.11

Description of this Gene: selenoprotein N

Type of Gene: protein-coding

rs121908188 in SELENON gene and Congenital Fiber Type Disproportion PMID 23394784 2013 Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.

PMID 12192640 2002 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.

PMID 17951086 2008 The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy.

PMID 16365872 2006 Two sisters with CFTD were homozygous for the 943G-->A SEPN1 mutation and had clinical features typical of previously reported patients with SEPN1-related myopathy.

PMID 15668457 2005 Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale.

rs1174570887 in SELENON gene and Eichsfeld type congenital muscular dystrophy PMID 12192640 2002 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.

PMID 16779558 2006 Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene.

PMID 23394784 2013 Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.

PMID 11528383 2001 Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.

PMID 15122708 2004 Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.

PMID 19067361 2009 A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy.

PMID 21078917 2010 Consensus statement on standard of care for congenital muscular dystrophies.

PMID 18713863 2008 Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle.

PMID 15668457 2005 Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale.

PMID 16365872 2006 SEPN1: associated with congenital fiber-type disproportion and insulin resistance.

PMID 17951086 2008 The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy.

PMID 21670436 2011 SEPN1-related myopathies: clinical course in a large cohort of patients.

PMID 15792869 2005 Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1).

PMID 27447704 2017 Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.

PMID 21131290 2011 Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency.