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RAI1 Rabbit pAb (bs-11940R)  
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50ul/1180.00元
100ul/1980.00元
200ul/2800.00元
大包裝/詢價
產品編號 bs-11940R
英文名稱 RAI1 Rabbit pAb
中文名稱 維甲酸誘導蛋白1抗體
別    名 DKFZP434A139; KIAA1820; MGC12824; retinoic acid induced 1; Retinoid acid induced protein 1; SMCR; SMS; RAI1_HUMAN.  
研究領域 神經生物學  轉錄調節(jié)因子  
抗體來源 Rabbit
克隆類型 Polyclonal
克 隆 號
交叉反應 (predicted: Human,Mouse,Rat)
產品應用 WB=1:500-2000,IHC-P=1:100-500,IHC-F=1:100-500,IF=1:100-500,ICC/IF=1:100-500,ELISA=1:5000-10000
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
理論分子量 203 kDa
檢測分子量
細胞定位 細胞核 細胞漿 
性    狀 Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human RAI1: 421-520/1906 
亞    型 IgG
純化方法 affinity purified by Protein A
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
產品介紹 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.

SWISS:
Q7Z5J4

Gene ID:
10743

Database links:

Entrez Gene: 10743 Human

Omim: 607642 Human

SwissProt: Q7Z5J4 Human

Unigene: 655395 Human



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