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SELENON - selenoprotein N
- Synonym(s) : RSS, SELN
- Previous symbols and names : MDRS1, RSMD1, SEPN1, rigid spine muscular dystrophy 1, selenoprotein N, 1
- Type : gene with protein product
- Chromosomal location : 1p36.11
- OMIM: 606210
- HGNC: 15999
- UniProtKB: Q9NZV5
- Genatlas: SEPN1
- Ensembl: ENSG00000162430
- IUPHAR-DB: -
- Reactome: -
Diseases list
- Disease-causing germline mutation(s) in Classic multiminicore myopathy
- Disease-causing germline mutation(s) in Congenital fiber-type disproportion myopathy
- Disease-causing germline mutation(s) in Desmin-related myopathy with Mallory body-like inclusions
- Disease-causing germline mutation(s) in Rigid spine syndrome
: AssessedAdditional information
Health care resources for this gene
Research activities on this gene
Specialised Social Services
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