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SELN / SEPN1
selenoprotein N, 1
SELN / SEPN1 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.
| Gene Name: | selenoprotein N, 1 |
| Synonyms: | SEPN1, CFTD, MDRS1, RSMD1, RSS, Selenoprotein N, 1, Selenoprotein N, SELN |
| Target Sequences: | AF166125 AAF21430.1 Q9NZV5 |
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