Aliases for SEPN1 Gene
External Ids for SEPN1 Gene
Previous HGNC Symbols for SEPN1 Gene
Previous GeneCards Identifiers for SEPN1 Gene
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. Mutations in this gene cause the classical phenotype of multiminicore disease and congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for SEPN1 Gene
SEPN1 (Selenoprotein N, 1) is a Protein Coding gene. Diseases associated with SEPN1 include desmin-related myopathy with mallory body-like inclusions and muscular dystrophy, rigid spine, 1. Among its related pathways are Selenium Metabolism and Selenoproteins and Selenium Pathway. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is ENSG00000255054.