维甲酸诱导蛋白1抗体
规格：1尘驳/1尘濒
英文名： RAI1
别名： DKFZP434A139; KIAA1820; MGC12824; retinoic acid induced 1; Retinoid acid induced protein 1; SMCR; SMS; RAI1_HUMAN.
分子量： 203kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：笔辞濒测肠濒辞苍补濒
亚型：滨驳骋
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human RAI1/Ret
交叉反应：Human, Mouse, Rat,
细胞定位：细胞核 细胞浆
维甲酸诱导蛋白1抗体产物介绍：background: Retinoic acid induced 1 (RAI1) is a 1,906 amino acid protein containing an N-terminal polyglutamine stretch that is expressed in most tissues, with highest expression in neuronal tissues. RAI1 functions as a transcriptional regulator and is important for embryonic and postnatal developments. Heterozygous deletions of the RAI1 gene are associated with Smith-Magenis syndrome (SMS), a mental retardation syndrome with behavioral, neurological and skeletal anomalies. Individuals affected with SMS usually display self-injurious behaviors, sleep disturbance, developmental delay and reduced motor and cognitive skills. RAI1 haploinsufficiency is specifically responsible for the obesity and craniofacial symptoms of SMS. RAI1 mutations have also been implicated in schizophrenia and spinocerebellar ataxia type 2. Function维甲酸诱导蛋白1抗体: RAI1 (retinoid-acid induced protein 1) may be involved in neuronal differentiation. RAI1 is highly similar to its mouse counterpart and is expressed at high levels mainly in neuronal tissues. RAI1 has a polymorphic polyglutamine tract in it's N-terminal domain. Expression of the mouse counterpart in neurons is induced by retinoic acid. The RAI1 gene is associated with both the severity of the phenotype and the response to medication in schizophrenic patients. Defects in RAI1 are a cause of Smith-Magenis syndrome (SMS). There are four named isoforms. Subcellular Location:维甲酸诱导蛋白1抗体 Cytoplasmic and Nuclear. In neurons it is localized to neurites. Tissue Specificity: Expressed in all tissues examined with higher expression in the heart and brain. No expression was seen in the corpus callosum of the brain. DISEASE: Defects in RAI1 are a cause of Smith-Magenis syndrome (SMS) [MIM:182290]. SMS is characterized by congenital mental retardation associated with development and growth delays. Affected persons have characteristic behavioral abnormalities, including self-injurious behaviors and sleep disturbance, and distinct craniofacial and skeletal anomalies. Similarity: Contains 1 PHD-type zinc finger. Database links: Entrez Gene: 10743 Human Omim: 607642 Human SwissProt: Q7Z5J4 Human Unigene: 655395 Human Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
维甲酸诱导蛋白1抗体产物应用：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 转录调节因子
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid