| 產(chǎn)品編號 | bsm-51162M |
| 英文名稱 | Mouse Anti-FMR1 antibody |
| 中文名稱 | 脆性X綜合征相關(guān)蛋白AFF1單克隆抗體 |
| 別 名 | FMR 1; FMR1; FMR1_HUMAN; FMRP; FMRP1; Fragile X mental retardation 1; Fragile X mental retardation 1 protein; FRAXA; POF; POF1; Protein FMR-1; Protein FMR1. |
| 抗體來源 | Mouse |
| 克隆類型 | Monoclonal |
| 克 隆 號 | 8C2 |
| 產(chǎn)品應(yīng)用 | WB=1:500-1000
not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user. |
| 理論分子量 | 70kDa |
| 細胞定位 | 細胞核 細胞漿 |
| 性 狀 | Liquid |
| 濃 度 | 1mg/ml |
| 免 疫 原 | Recombinant human FMR1 protein |
| 亞 型 | Mouse IgG1, κ |
| 純化方法 | affinity purified by Protein G |
| 緩 沖 液 | 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol. |
| 保存條件 | Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles. |
| 注意事項 | This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. |
| PubMed | PubMed |
| 產(chǎn)品介紹 |
Fragile X syndrome is the most frequent form of inherited mental retardation and is the result of transcriptional silencing of the FMR1 gene on the X chromosome. The FMR1 gene contains a distinct CpG dinucleotide repeat located in the 5' untranslated region of the gene. In fragile X syndrome this tandem repeat is substantially amplified and subjected to extensive methylation and enhanced transcriptional silencing. The FMR1 protein (or FMRP) is an RNA-binding protein that associates with polyribosomes and is a likely component of a messenger ribonuclear protein (mRNP) particle. It contains several features that are characteristics of RNA-binding proteins, including two hnRNPK homology (KH) domains and an RGG amino acid motif (RGG box). FMR1 localizes to both the nucleus and the cytoplasm and can also interact with two fragile X syndrome related factors, FXR1 and FXR2, which form heterodimers through their N-terminal coiled-coil domains. Since FMR1 contains both a nuclear localization signal and a nuclear export signal it is also implicated in the nucleocytoplasmic transport of mRNAs. Function: Translation repressor. Component of the CYFIP1-EIF4E-FMR1 complex which binds to the mRNA cap and mediates translational repression. In the CYFIP1-EIF4E-FMR1 complex this subunit mediates translation repression (By similarity). RNA-binding protein that plays a role in intracellular RNA transport and in the regulation of translation of target mRNAs. Associated with polysomes. May play a role in the transport of mRNA from the nucleus to the cytoplasm. Binds strongly to poly(G), binds moderately to poly(U) but shows very little binding to poly(A) or poly(C). Subunit: Component of the CYFIP1-EIF4E-FMR1 complex which is composed of CYFIP, EIF4E and FMR1. Interacts with CYFIP1 and CYFIP2. The interaction with brain cytoplasmic RNA 1 (BC1) increases binding affinity for the CYFIP1-EIF4E complex in the brain (By similarity). Homooligomer. Found in a RNP granule complex with IGF2BP1. Directly interacts with SMN and TDRD3. Interacts with the SMN core complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP. Interacts with FXR1, FXR2, IGF2BP1, NUFIP1, NUFIP2, MCRS1 and RANBP9. Subcellular Location: Cytoplasm. Nucleus, nucleolus. Tissue Specificity: Highest levels found in neurons, brain, testis, placenta and lymphocytes. Also expressed in epithelial tissues and at very low levels in glial cells. Post-translational modifications: Phosphorylated on several serine residues. DISEASE: Defects in FMR1 are the cause of fragile X syndrome (FRAX) [MIM:300624]. Fragile X syndrome is a common genetic disease (has a prevalence of one in every 2000 children) which is characterized by moderate to severe mental retardation, macroorchidism (enlargement of the testicles), large ears, prominent jaw, and high-pitched, jocular speech. The defect in most fragile X syndrome patients results from an amplification of a CGG repeat region which is directly in front of the coding region. Defects in FMR1 are the cause of fragile X tremor/ataxia syndrome (FXTAS) [MIM:300623]. In FXTAS, the expanded repeats range in size from 55 to 200 repeats and are referred to as 'premutations'. Full repeat expansions with greater than 200 repeats results in fragile X mental retardation syndrome [MIM:300624]. Carriers of the premutation typically do not show the full fragile X syndrome phenotype, but comprise a subgroup that may have some physical features of fragile X syndrome or mild cognitive and emotional problems. Defects in FMR1 are the cause of premature ovarian failure syndrome type 1 (POF1) [MIM:311360]. An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. Similarity: Belongs to the FMR1 family. Contains 2 Agenet-like domains. Contains 2 KH domains. SWISS: Q06787 Gene ID: 2332 Database links: UniProtKB/Swiss-Prot: Q06787.1 脆性X綜合癥，又稱馬?。悹柧C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染色體上一個簡單的三核苷酸基因序列（CGG）的擴增。這種擴增導(dǎo)致了一種稱為FMR-1的蛋白質(zhì)無法在病人體內(nèi)表達，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)序列的長度，目前普遍認可將脆性X綜合癥分為四種類型：正常人（含有19－31個CGG重復(fù)序列），前突變者（含有55－200個CGG重復(fù)序列），全突變者（含有200個以上的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。 |
