SEPN1 Antibody

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.

For short periods of storage (days) store at 4˚ C. For longer periods of storage, store SEPN1 antibody at -20˚ C. As with any antibody avoid repeat freeze-thaw cycles.

SEPN1 antibody can be used for detection of SEPN1 by ELISA at 1:1562500. SEPN1 antibody can be used for detection of SEPN1 by western blot at 1.0 μ g/mL, and HRP conjugated secondary antibody should be diluted 1:50,000 - 100,000.