脆性X综合征相关蛋白AFF2抗体
规格：1mg/1ml
英文名： AFF2
别名： 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
分子量： 145kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human AFF2 (1-
交叉反应：Human, Mouse, Rat, Dog, Pig, Cow, Horse,
细胞定位：细胞核
脆性X综合征相关蛋白AFF2抗体产品介绍：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脆性X综合征相关蛋白AFF2抗体. 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.脆性X综合征相关蛋白AFF2抗体 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综合症，又称马丁－贝尔综合症，是一种遗传**。该综合症可以导致一系列的特征性症状，包括生理、智力、情绪、以及行为上的异常。症状的轻重各有不同。该**伴随着X染色体上一个简单的三核苷酸基因序列（CGG）的扩增。这种扩增导致了一种称为FMR-1的蛋白质无法在病人体内表达，而该蛋白质是神经的正常发育必不可少的。 根据CGG重复序列的长度，目前普遍认可将脆性X综合症分为四种类型：正常人（含有19－31个CGG重复序列），前突变者（含有55－200个CGG重复序列），全突变者（含有200个以上的CGG重复序列），过渡型，又称“灰**域型”（含有40－60个重复）。脆性X综合征这是一种导致智力低下的遗传**，是导致人群中智力低下的**大病因——仅次于21三体综合症。
脆性X综合征相关蛋白AFF2抗体产品应用：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 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
研究领域：神经生物学
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid