Biology:SELENON

Short description: Protein-coding gene in the species Homo sapiens

Generic protein structure example

Selenoprotein N is a protein that in humans is encoded by the SEPN1 gene.

Function

This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Pathogenic Mutations in SEPN1 gene (SELENON) can cause the classical phenotype of multiminicore disease and congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome known as SEPN1-related congenital muscular dystrophy or rigid spine syndrome. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.

Further reading

• "Isolation, expression, and chromosomal localization of the human mitochondrial capsule selenoprotein gene (MCSP)". Genomics 32 (2): 184–90. Mar 1996. doi:10.1006/geno.1996.0104. PMID 8833144. 
• "Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36". American Journal of Human Genetics 62 (6): 1439–45. Jun 1998. doi:10.1086/301882. PMID 9585610. 
• "Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome". Nature Genetics 29 (1): 17–8. Sep 2001. doi:10.1038/ng713. PMID 11528383. 
• "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 71 (4): 739–49. Oct 2002. doi:10.1086/342719. PMID 12192640. 
• "Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern". Human Molecular Genetics 12 (9): 1045–53. May 2003. doi:10.1093/hmg/ddg115. PMID 12700173. 
• "Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene". Annals of Neurology 55 (5): 676–86. May 2004. doi:10.1002/ana.20077. PMID 15122708. 
• "Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale". Neurology 64 (2): 395–6. Jan 2005. doi:10.1212/01.WNL.0000149755.85666.DB. PMID 15668457. 
• "Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1)". Neuromuscular Disorders 15 (4): 299–302. Apr 2005. doi:10.1016/j.nmd.2004.11.004. PMID 15792869. 
• "Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes". Neuromuscular Disorders 15 (8): 521–4. Aug 2005. doi:10.1016/j.nmd.2005.03.006. PMID 15961312. 
• "SEPN1: associated with congenital fiber-type disproportion and insulin resistance". Annals of Neurology 59 (3): 546–52. Mar 2006. doi:10.1002/ana.20761. PMID 16365872. 
• "A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy". EMBO Reports 7 (4): 450–4. Apr 2006. doi:10.1038/sj.embor.7400648. PMID 16498447. 
• "Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene". Neurogenetics 7 (3): 175–83. Jul 2006. doi:10.1007/s10048-006-0046-0. PMID 16779558. 

External links

• GeneReviews/NCBI/NIH/UW entry on Congenital Muscular Dystrophy Overview
• GeneReviews/NCBI/NIH/UW entry on Multiminicore Disease