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Rabbit Anti-RAI1/HRP Conjugated antibody (bs-11940R-HRP)
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说 明 书: 100ul  
100ul/2980.00元
大包装/询价
产品编号 bs-11940R-HRP
英文名称 Rabbit Anti-RAI1/HRP Conjugated antibody
中文名称 辣根过氧化物酶标记的维甲酸诱导蛋白1抗体
别    名 DKFZP434A139; KIAA1820; MGC12824; retinoic acid induced 1; Retinoid acid induced protein 1; SMCR; SMS; RAI1_HUMAN.  
规格价格 100ul/2980元 购买        大包装/询价
说 明 书 100ul  
研究领域 神经生物学  转录调节因子  
抗体来源 Rabbit
克隆类型 Polyclonal
交叉反应 (predicted: Human, Mouse, Rat, )
产品应用 WB=1:500-2000 ELISA=1:100-1000 IHC-P=1:50-200 IHC-F=1:50-200 ICC=1:50-200 
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量 203kDa
性    状 Lyophilized or Liquid
浓    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human RAI1/Retinoid acid induced protein 1
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.
产品介绍 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:
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:
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.
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