Description
Product Characteristics: 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. Synonyms: Polyclonal SEPN1 antibody, Anti-SEPN1 antibody, selenoprotein N, 1 antibody, FLJ24021 antibody, MDRS1 antibody, RSMD1 antibody, RSS antibody, SELN antibody.
Target Information: 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. [provided by RefSeq, Jul 2008]