| 產(chǎn)品編號 | bs-21081R-BF594 |
| 英文名稱1 | Rabbit Anti-SEPN1/Selenoprotein N/BF594 Conjugated antibody |
| 中文名稱 | BF594標(biāo)記的硒蛋白N抗體 |
| 別 名 | CFTD; MDRS1; RSMD1; RSS; Selenoprotein N; Selenoprotein N, 1; SelN; SELN_HUMAN; sepn1. |
| 規(guī)格價格 | 100ul/2980元 購買 大包裝/詢價 |
| 說 明 書 | 100ul |
| 研究領(lǐng)域 | 細胞生物 免疫學(xué) |
| 抗體來源 | Rabbit |
| 克隆類型 | Polyclonal |
| 交叉反應(yīng) | (predicted: Human, Mouse, Rat, Dog, Pig, Cow, Rabbit, Sheep, ) |
| 產(chǎn)品應(yīng)用 | ICC=1:50-200 IF=1:50-200
not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user. |
| 分 子 量 | 61kDa |
| 性 狀 | Lyophilized or Liquid |
| 濃 度 | 1mg/ml |
| 免 疫 原 | KLH conjugated synthetic peptide derived from human SEPN1/Selenoprotein N |
| 亞 型 | IgG |
| 純化方法 | affinity purified by Protein A |
| 儲 存 液 | 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. |
| 保存條件 | Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C. |
| 產(chǎn)品介紹 |
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] Function: Isoform 2: Plays an important role in cell protection against oxidative stress and in the regulation of redox-related calcium homeostasis. Regulates the calcium level of the ER by protecting the calcium pump ATP2A2 against the oxidoreductase ERO1A-mediated oxidative damage. Within the ER, ERO1A activity increases the concentration of H(2)O(2), which attacks the luminal thiols in ATP2A2 and thus leads to cysteinyl sulfenic acid formation (-SOH) and SEPN1 reduces the SOH back to free thiol (-SH), thus restoring ATP2A2 activity (PubMed:25452428). Acts as a modulator of ryanodine receptor (RyR) activity: protects RyR from oxidation due to increased oxidative stress, or directly controls the RyR redox state, regulating the RyR-mediated calcium mobilization required for normal muscle development and differentiation (PubMed:19557870, PubMed:18713863). Essential for muscle regeneration and satellite cell maintenance in skeletal muscle (PubMed:21131290). Subcellular Location: Endoplasmic reticulum membrane. Probably membrane-associated. Tissue Specificity: Isoform 1 and isoform 2 are expressed in skeletal muscle, brain, lung and placenta. Isoform 2 is also expressed in heart, diaphragm and stomach. Post-translational modifications: N-glycosylated (isoform 2). DISEASE: Defects in SEPN1 are the cause of myopathy SEPN1-related (M-SEPN1) [MIM:602771]. A group of neuromuscular disorders consisting of four nosological entities: classic multiminicore disease (MmD), rigid spine muscular dystrophy 1 syndrome (RSMD1), desmin-related myopathy with Mallory body-like inclusions (MB-DRM) and congenital fiber-type disproportion. All are clinically characterized by poor axial muscle strength, scoliosis and neck weakness, and a variable degree of spinal rigidity. Early ventilatory insufficiency can lead to death by respiratory failure. Similarity: Contains 1 EF-hand domain. Database links: Entrez Gene: 57190 Human Entrez Gene: 74777 Mouse Omim: 606210 Human SwissProt: Q9NZV5 Human Unigene: 323396 Human Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. |
