SELENON selenoprotein N
Gene ID: 57190, updated on 5-Mar-2024Gene type: protein coding
Also known as: RSS; CFTD; SELN; CMYP3; MDRS1; RSMD1; SEPN1
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- Go to complete Gene record for SELENON
- Go to Variation Viewer for SELENON variants
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. [provided by RefSeq, Dec 2016]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Congenital myopathy with fiber type disproportion MedGen: C0546264GeneReviews: Not available | See labs |
Eichsfeld type congenital muscular dystrophy | See labs |
Multiminicore myopathy MedGen: C0270962GeneReviews: Not available | See labs |
Genomic context
- Location:
- 1p36.11
- Sequence:
- Chromosome: 1; NC_000001.11 (25800193..25818221)
- Total number of exons:
- 13
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for SELENON variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SEPN1 homepage - Leiden Muscular Dystrophy pages
- Variation ViewerRelated Variants
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