Anti-CYFIP2抗体脆性X综合症，又称马丁－贝尔综合症，是一种遗传疾病。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。

产品编号 yb-7606R
英文名称Anti-CYFIP2抗体
中文名称 细胞质脆性X智力低下蛋白结合蛋白2抗体
别    名 CYFP2; cytoplasmic FMR1 interacting protein 2; KIAA1168; p53 inducible protein; p53-inducible protein 121; PIR121; CYFP2_HUMAN.
Anti-CYFIP2抗体   
说 明 书 0.1ml  0.2ml  
研究领域 细胞生物  神经生物学  信号转导  细胞凋亡  转录调节因子  t-淋巴细胞  
抗体来源 Rabbit
克隆类型 Polyclonal
交叉反应 Human, Mouse, Rat, Chicken, Dog, Pig, Horse, Rabbit, Sheep, 
产品应用 WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=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.
分 子 量 148kDa
细胞定位 细胞浆 细胞膜 
性    状 Lyophilized or Liquid
浓    度 1mg/1ml
免 疫 原 KLH conjugated synthetic peptide derived from human CYFIP2
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.

PubMed PubMed
产品介绍 background:
CYFIP2 is involved in T cell adhesion and p53 dependent induction of apoptosis. It does not bind RNA but is up regulated significantly in CD4+ T lymphocytes from patients with multiple sclerosis. There are 2 isoforms produced by alternative splicing.

Function:
Involved in T-cell adhesion and p53/TP53-dependent induction of apoptosis. Does not bind RNA

Subunit:
Interacts with FMR1, FXR1 AND FXR2. Component of the WAVE1 complex composed of ABI2, CYFIP2, BRK1, NCKAP1 and WASF1/WAVE1. CYFIP2 binds to activated RAC1 which causes the complex to dissociate, releasing activated WASF1. The complex can also be activated by NCK1.

Subcellular Location:
Cytoplasm. Cytoplasm, perinuclear region. Cell junction , synapse, synaptosome. Note: Highly expressed in the perinuclear region. Enriched in synaptosomes. Treatment with leptomycin-B triggers translocation to the nucleus.

Tissue Specificity:
Expressed in T-cells. Increased expression is observed in CD4+ T-lymphocytes from patients with multiple sclerosis (at protein level).

Similarity:
Belongs to the CYFIP family.

Database links:
UniProtKB/Swiss-Prot: Q96F07.2

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，是一种遗传疾病。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。该疾病伴随着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*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“灰色区域型"（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疾病，是导致人群中智力低下的第二大病因——仅次于21三体综合症。