SMCHD1蛋白抗體 返回列表頁

SMCHD1蛋白抗體

英文名稱 SMCHD1
中文名稱 SMCHD1蛋白抗體
別    名 KIAA0650; SMC hinge domain containing 1; SMC hinge domain containing protein 1; Smchd1; SMHD1_HUMAN; Structural maintenance of chromosomes flexible hinge domain containing 1; Structural maintenance of chromosomes flexible hinge domain-containing protein 1.
  
說 明 書 0.2ml  
研究領(lǐng)域 細(xì)胞生物  表觀遺傳學(xué)  
抗體來源 Rabbit
克隆類型 Polyclonal
交叉反應(yīng) Human, Mouse, Rat, Dog, Pig, Cow, Horse, Rabbit, Sheep, 
產(chǎn)品應(yīng)用 WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蠟切片需做抗原修復(fù)） 
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量 226kDa
細(xì)胞定位 細(xì)胞核 
性    狀 Lyophilized or Liquid
濃    度 1mg/1ml
免 疫 原 KLH conjugated synthetic peptide derived from human SMCHD1
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.

PubMed PubMed
產(chǎn)品介紹 background:
This gene encodes a protein which contains a hinge region domain found in members of the SMC (structural maintenance of chromosomes) protein family. [provided by RefSeq, Dec 2011]

Function:
Required for maintenance of X inactivation in females and hypermethylation of CpG islands associated with inactive X. Involved in a pathway that mediates the methylation of a subset of CpG islands slowly and requires the de novo methyltransferase DNMT3B (By similarity). Required for DUX4 silencing in somatic cells.

Subcellular Location:
Chromosome

DISEASE:
The disease is caused by mutations affecting the gene represented in this entry. SMCHD1 mutations lead to DUX4 expression in somatic tissues, including muscle cells, when an haplotype on chromosome 4 is permissive for DUX4 expression. Ectopic expression of DUX4 in skeletal muscle activates the expression of stem cell and germline genes, and, when overexpressed in somatic cells, DUX4 can ultimay lead to cell death.
Disease description:A degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles.

Gene ID:
23347

Database links:xy-12580R    BDP神經(jīng)母細(xì)胞瘤相關(guān)蛋白ARID3B抗體
xy-12861R    beta IV Tubulin微管蛋白β4抗體
xy-12862R    beta subunit Cholera Toxin霍亂腸毒素β鏈抗體
xy-12582R    beta B1 Crystallinβ晶體蛋白B1抗體
xy-12572R    phospho-Bax (Thr167)磷酸化Bax抗體
xy-12573R    phospho-BCAR1(Tyr165)磷酸化乳腺癌抗雌激素耐藥蛋白1抗體
xy-12574R    phospho-BCAR1 (Tyr249)磷酸化乳腺癌抗雌激素耐藥蛋白1抗體
xy-12575R    phospho-BCAR1 (Tyr751)磷酸化乳腺癌抗雌激素耐藥蛋白1抗體
xy-12567R    phospho-BAD(Ser91)磷酸化相關(guān)死亡促進(jìn)因子抗體
xy-12568R    BAF53A肌動蛋白樣蛋白6A抗體
xy-12569R    phospho-Band3 (Tyr21)磷酸化紅細(xì)胞陰離子交換蛋白1抗體
xy-12570R    phospho-Band3 (Tyr359)磷酸化紅細(xì)胞陰離子交換蛋白1抗體
xy-12571R    BANF1障礙自整合蛋白BAF抗體
xy-12553R    phospho-B MyB (Ser577 + Ser581)磷酸化轉(zhuǎn)錄因子MYB相關(guān)蛋白B抗體
xy-12554R    phospho-B MyB (Thr487)磷酸化轉(zhuǎn)錄因子MYB相關(guān)蛋白B抗體
xy-12555R    phospho-B-Raf (Ser729)磷酸化B-Raf抗體
xy-12556R    phospho-B Raf (Thr446 + Ser601)磷酸化B-Raf抗體
xy-12557R    phospho-B Raf (Thr598)磷酸化B-Raf抗體
xy-12558R    phospho-B Raf (Thr753)磷酸化B-Raf抗體
xy-12563R    BACH2轉(zhuǎn)錄調(diào)節(jié)蛋白BACH2抗體
xy-12564R    Bacillus anthracis lethal factor炭疽桿菌致死因子LF抗體
xy-12322R    Protein BOC蛋白BOC抗體
xy-12307R    BP1氨肽酶A抗體
xy-7132R    BNP腦鈉素/利鈉肽抗體
xy-15534R    Bcl-2 betaBcl2 beta蛋白抗體
xy-2668R    Bone sialoprotein骨涎蛋白抗體
xy-1488R    Bim細(xì)胞死亡調(diào)解子抗體
xy-1489R    BIRC6Apollon凋亡抑制蛋白抗體
xy-1628R    BONZO細(xì)胞表面趨化因子受體6抗體
xy-1195R    beta endorphinβ-內(nèi)啡肽/β endorphin抗體
xy-1509R    BMPR1A骨成型蛋白受體1A抗體
xy-1336R    Bcl-xLBcl-xL蛋白抗體
xy-1337R    phospho-Bcl-xL (Ser62)磷酸化Bcl-xL(Ser62)抗體
xy-1304R    Bad相關(guān)死亡促進(jìn)因子Bad抗體
xy-9519R    BPGM紅細(xì)胞2,3 - 二磷酸甘油酸合成酶抗體