| 產(chǎn)品編號(hào) | bs-11703R-BF488 |
| 英文名稱1 | Rabbit Anti-AFF2/BF488 Conjugated antibody |
| 中文名稱 | BF488標(biāo)記的脆性X綜合征相關(guān)蛋白AFF2抗體 |
| 別 名 | FMR2; AF4/FMR2 family member 2; AF4/FMR2 family, member 2; AFF2; AFF2_HUMAN; FMR2; FMR2P; Fragile X E mental retardation syndrome protein; fragile X mental retardation 2; Fragile X mental retardation 2 protein; fragile X mental retardation gene associated with FRAXE; FRAXE; mild or borderline mental retardation; MRX2; OX19; Protein FMR-2; Protein Ox19. |
| 規(guī)格價(jià)格 | 100ul/2980元 購買 大包裝/詢價(jià) |
| 說 明 書 | 100ul |
| 研究領(lǐng)域 | 神經(jīng)生物學(xué) |
| 抗體來源 | Rabbit |
| 克隆類型 | Polyclonal |
| 交叉反應(yīng) | (predicted: Human, Mouse, Rat, Dog, Pig, Cow, Horse, ) |
| 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 | 145kDa |
| 性 狀 | Lyophilized or Liquid |
| 濃 度 | 1mg/ml |
| 免 疫 原 | KLH conjugated synthetic peptide derived from human AFF2 (1-80aa) |
| 亞 型 | IgG |
| 純化方法 | affinity purified by Protein A |
| 儲(chǔ) 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: FMR2 is a 1311 amino acid nuclear protein belonging to the AF4 family. Expressed in the brain, placenta and lung, FMR2 exists as two isoforms produced by alternative splicing. Defects in the gene that encodes FMR2 have been found to be a cause of FRAXE, an X-linked form of mental retardation. Individuals expressing the FRAXE site also have more than two-hundred copies of a GCC repeat adjacent to CpG island, compared to six to thirty-five copies of the GCC repeat in a normal individual. It is believed that loss of FMR2 expression causes this GCC expansion of the FRAXE site. Function: RNA-binding protein. Might be involved in alternative splicing regulation through an interaction with G-quartet RNA structure. Subcellular Location: Nucleus speckle. When splicing is inhibited, accumlates in enlarged speckles. Tissue Specificity: Brain (most abundant in hippocampus and amygdala), placenta and lung. DISEASE: Defects in AFF2 are the cause of fragile X-E mental retardation syndrome (FRAXE) [MIM:309548]. FRAXE is an X-linked form of mental retardation. Loss of FMR2 expression is correlated with FRAXE CCG(N) expansion. Normal individuals have 6-35 copies of the repeat, whereas cytogenetically positive, developmentally delayed males have more than 200 copies and show methylation of the associated CPG island. Similarity: Belongs to the AF4 family. Database links: Entrez Gene: 2334 Human Omim: 309548 Human SwissProt: P51816 Human Unigene: 496911 Human Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. 脆性X綜合癥，又稱馬丁－貝爾綜合癥，是一種遺傳疾病。該綜合癥可以導(dǎo)致一系列的特征性癥狀，包括生理、智力、情緒、以及行為上的異常。癥狀的輕重各有不同。該疾病伴隨著X染色體上一個(gè)簡(jiǎn)單的三核苷酸基因序列（CGG）的擴(kuò)增。這種擴(kuò)增導(dǎo)致了一種稱為FMR-1的蛋白質(zhì)無法在病人體內(nèi)表達(dá)，而該蛋白質(zhì)是神經(jīng)的正常發(fā)育必不可少的。 根據(jù)CGG重復(fù)序列的長(zhǎng)度，目前普遍認(rèn)可將脆性X綜合癥分為四種類型：正常人（含有19－31個(gè)CGG重復(fù)序列），前突變者（含有55－200個(gè)CGG重復(fù)序列），全突變者（含有200個(gè)以上的CGG重復(fù)序列），過渡型，又稱“灰色區(qū)域型”（含有40－60個(gè)重復(fù)）。脆性X綜合征這是一種導(dǎo)致智力低下的遺傳疾病，是導(dǎo)致人群中智力低下的第二大病因——僅次于21三體綜合癥。 |
