Article
A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy.
Human mutation - 1 Mar 2009
Maiti Baijayanta, Arbogast Sandrine, Allamand Valérie, Moyle Mark W, Anderson Christine B, Richard Pascale, Guicheney Pascale, Ferreiro Ana, Flanigan Kevin M, Howard Michael T
Abstract excerpt
Mutations in SEPN1 result in a spectrum of early-onset muscle disorders referred to as SEPN1-related myopathy. The SEPN1 gene encodes selenoprotein N (SelN), which contains the amino acid selenocysteine (Sec). Incorporation of Sec occurs due to redefinition of a UGA codon during translation. Efficient insertion requires a Sec insertion sequence (SECIS) in the 3'UTR and, for at least a subset of selenoprotein...
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