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Immunogen sequence: WSLVKELEEL QNKQENSSHQ KLAGLHLEKY SFPVEMMICL PNGTVVHHIN ANYFLDITSV KPEEIESNLF SFSSTFEDPS T
Highest antigen sequence identity to the following orthologs: Mouse - 83%, Rat - 80%.
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: FLJ24021; Selenoprotein N; SelN
基因别名: CFTD; MDRS1; RSMD1; RSS; SELENON; SELN; SEPN1
UniProt ID: (Human) Q9NZV5
Entrez Gene ID: (Human) 57190