SEPN1 codes for selenoprotein N that is involved in redox homeostasis. It protects cells against oxidative stress. Mutations in this gene have been linked to SEPN1-related myopathy, multiminicore disease, and congenital muscular dystrophy. Rabbit anti-SEPN1 antibody recognizes human, mouse, pig, and bovine SEPN1.
Immunogen
Synthetic peptide directed towards the C terminal region of human SEPN1
Application
Rabbit anti-SEPN1 antibody is suitable for western blot applications at a concentration of 1μg/ml.
Biochem/physiol Actions
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.
Sequence
Synthetic peptide located within the following region: NYFLDITSVKPEEIESNLFSFSSTFEDPSTATYMQFLKEGLRRGLPLLQP
Physical form
Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.
Disclaimer
Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
To assess the clinical course and genotype-phenotype correlations in patients with selenoprotein-related myopathy (SEPN1-RM) due to selenoprotein N1 gene (SEPN1) mutations for a retrospective cross-sectional study. Forty-one patients aged 1-60 years were included. Clinical data including scoliosis, respiratory function, and
Mutations of the selenoprotein N gene (SEPN1) cause SEPN1-related myopathy (SEPN1-RM), a novel early-onset muscle disorder formerly divided into four different nosological categories. Selenoprotein N (SelN) is the only selenoprotein involved in a genetic disease; its function being unknown, no
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