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货号： bs-21081R-AF594 基本售价： 2980.0 元 规格： 100ul
产品信息
- 产品编号
- bs-21081R-AF594
- 英文名称
- Anti-SEPN1/Selenoprotein N/AF594
- 中文名称
- AF594标记的硒蛋白N抗体
- 别 名
- CFTD; MDRS1; RSMD1; RSS; Selenoprotein N; Selenoprotein N, 1; SelN; SELN_HUMAN; sepn1.
- 规格价格
- 100ul/2980元购买 大包装/询价
- 说 明 书
- 100ul
- 研究领域
- 细胞生物 免疫学
- 抗体来源
- Rabbit
- 克隆类型
- Polyclonal
- 交叉反应
- Human, Mouse, Rat, Dog, Pig, Cow, Rabbit, Sheep,
- 产品应用
- 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 状
- Lyophilized or Liquid
- 浓 度
- 2mg/1ml
- 免 疫 原
- KLH conjugated synthetic peptide derived from human SEPN1/Selenoprotein N
- 亚 型
- IgG
- 纯化方法
- affinity purified by Protein A
- 储 存 液
- 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
- 保存条件
- 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.
- 产品介绍
- 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: 57190Human
Entrez Gene: 74777Mouse
Entrez Gene: 362624Rat
Omim: 606210Human
SwissProt: Q9NZV5Human
Unigene: 323396Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.