Selenoprotein N is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''SEPN1''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
Function
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. Pathogenic Mutations in SEPN1 gene (SELENON) can cause the classical phenotype of multiminicore disease and congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome known as SEPN1-related congenital muscular dystrophy or
rigid spine syndrome
Rigid spine syndrome, also known as congenital muscular dystrophy with rigidity of the spine (CMARS), is a rare and often debilitating neuromuscular disorder. It is characterized by progressive muscle stiffness and rigidity, particularly in the s ...
. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.
References
Further reading
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External links
GeneReviews/NCBI/NIH/UW entry on Congenital Muscular Dystrophy Overview GeneReviews/NCBI/NIH/UW entry on Multiminicore Disease
Selenoproteins
Genes mutated in mice