SEPN1 (SELENON) Rabbit Polyclonal Antibody

Specifications

Product Data
Applications	IHC, WB
Recommend Dilution	WB: 500-2000 WB positive control: Human placenta tissue IHC: 25-100 Positive control: Human thyroid cancer Predicted cell location: Cytoplasm
Reactivity	Human
Host	Rabbit
Clonality	Polyclonal
Immunogen	Synthetic peptide of human SELENON
Formulation	pH7.4 PBS, 0.05% NaN3, 40% Glycerol
Purification	Antigen affinity purification
Conjugation	Unconjugated
Storage Condition	Store at -20°C.
Predicted Protein Size	66 kDa
Gene Name	selenoprotein N, 1
Database Link	Entrez Gene 57190 Human UniProt ID Q9NZV5
Background	This gene encodes a glycoprotein that is localized in the endoplasmic reticulum. It plays an important role in cell protection against oxidative stress, and in the regulation of redox-related calcium homeostasis. Mutations in this gene are associated with early onset muscle disorders, referred to as SEPN1-related myopathy. SEPN1-related myopathy consists of 4 autosomal recessive disorders, originally thought to be separate entities: rigid spine muscular dystrophy (RSMD1), the classical form of multiminicore disease, desmin related myopathy with Mallory-body like inclusions, and congenital fiber-type disproportion (CFTD). This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. A second stop-codon redefinition element (SRE) adjacent to the UGA codon has been identified in this gene (PMID:15791204). SRE is a phylogenetically conserved stem-loop structure that stimulates readthrough at the UGA codon, and augments the Sec insertion efficiency by SECIS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2016]
Synonyms	FLJ24021; MDRS1; OTTHUMP00000008506; OTTHUMP00000008507; RSMD1; RSS; SELN
Reference Data

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