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Highest antigen sequence indentity to the following orthologs: Mouse (83%), Rat (83%).
This recombinant protein control fragment may be used for blocking experiments with the corresponding antibody, PA5-63520. In IHC/ICC and WB experiments, we recommend a 100x molar excess of the protein fragment control based on the concentration and the molecular weight. Pre-incubate the antibody-protein control fragment mixture for 30 min at room temperature.
SEPN1 is a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. Mutations in SEPN1 gene cause the classical phenotype of multiminicore disease and congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. 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.
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Protein Aliases: FLJ24021; Selenoprotein N; SelN
Gene Aliases: CFTD; MDRS1; RSMD1; RSS; SELENON; SELN; SEPN1
UniProt ID: (Human) Q9NZV5
Entrez Gene ID: (Human) 57190
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