Gene Symbol: Selenon
Description: selenoprotein N
Alias: 1110019I12Rik, AI414492, SelN, Sepn1, selenoprotein N, selenoprotein N, 1
Moghadaszadeh B, Petit N, Jaillard C, Brockington M, Quijano Roy S, Merlini L, et al
. Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Nat Genet. 2001;29:17-8 pubmed
..locus and find evidence of linkage disequilibrium associated with SEPN1, which encodes the recently described selenoprotein N (ref. 2)...
Castets P, Maugenre S, Gartioux C, Rederstorff M, Krol A, Lescure A, et al
. Selenoprotein N is dynamically expressed during mouse development and detected early in muscle precursors. BMC Dev Biol. 2009;9:46 pubmed publisher
In humans, mutations in the SEPN1 gene, encoding selenoprotein N (SelN), are involved in early onset recessive neuromuscular disorders, referred to as SEPN1-related-myopathies...
Rederstorff M, Castets P, Arbogast S, Laine J, Vassilopoulos S, Beuvin M, et al
. Increased muscle stress-sensitivity induced by selenoprotein N inactivation in mouse: a mammalian model for SEPN1-related myopathy. PLoS ONE. 2011;6:e23094 pubmed publisher
Selenium is an essential trace element and selenoprotein N (SelN) was the first selenium-containing protein shown to be directly involved in human inherited diseases...
Moghadaszadeh B, Rider B, Lawlor M, Childers M, Grange R, Gupta K, et al
. Selenoprotein N deficiency in mice is associated with abnormal lung development. FASEB J. 2013;27:1585-99 pubmed publisher
Mutations in the human SEPN1 gene, encoding selenoprotein N (SepN), cause SEPN1-related myopathy (SEPN1-RM) characterized by muscle weakness, spinal rigidity, and respiratory insufficiency...
Marino M, Stoilova T, Giorgi C, Bachi A, Cattaneo A, Auricchio A, et al
. SEPN1, an endoplasmic reticulum-localized selenoprotein linked to skeletal muscle pathology, counteracts hyperoxidation by means of redox-regulating SERCA2 pump activity. Hum Mol Genet. 2015;24:1843-55 pubmed publisher
b>Selenoprotein N (SEPN1) is a broadly expressed resident protein of the endoplasmic reticulum (ER) whose loss-of-function inexplicably leads to human muscle disease...
Howard M, Aggarwal G, Anderson C, Khatri S, Flanigan K, Atkins J. Recoding elements located adjacent to a subset of eukaryal selenocysteine-specifying UGA codons. EMBO J. 2005;24:1596-607 pubmed
..stop codon redefinition element located adjacent to a selenocysteine-encoding UGA codon in the eukaryal gene, SEPN1. This element is sufficient to stimulate high-level (6%) translational redefinition of the SEPN1 UGA codon in ..
Castets P, Bertrand A, Beuvin M, Ferry A, Le Grand F, Castets M, et al
. Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency. Hum Mol Genet. 2011;20:694-704 pubmed publisher
b>Selenoprotein N (SelN) deficiency causes a group of inherited neuromuscular disorders termed SEPN1-related myopathies (SEPN1-RM)...
Gladyshev V, Arnér E, Berry M, Brigelius Flohe R, Bruford E, Burk R, et al
. Selenoprotein Gene Nomenclature. J Biol Chem. 2016;291:24036-24040 pubmed
..selenoprotein I, SELI, EPT1), SELENOK (selenoprotein K, SELK), SELENOM (selenoprotein M, SELM), SELENON (selenoprotein N, SEPN1, SELN), SELENOO (selenoprotein O, SELO), SELENOP (selenoprotein P, SeP, SEPP1, SELP), SELENOS (..