产品名称

RAI1抗体

英文名称

RAI1

产品规格

50ul  100ul 200ul 

产品货号

GOY-01K0622

产品分类

抗体 / 一抗

交叉反应

Human, Mouse, Rat

保存条件

Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.

标记

Unconjugated

抗体来源

Rabbit

抗体类型

Polyclonal

研究领域

神经生物学 转录调节因子

蛋白细胞定位

细胞核,细胞浆

纯化方法

affinity purified by Protein A

性状

Liquid

浓度

1mg/ml

储存液

 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.

发货地

上海

背景资料

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 e are associated with Smith-Mais 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.