蛋白质/抗原/多肽 >> 重组蛋白
重组维甲酸诱导蛋白1
产品介绍 基因名: RAI1 产品别名: SMCR; SMS; RAI1; retinoic acid induced 1; retinoic acid induced 1; retinoic acid-induced protein 1; Smith-Magenis syndrome chromosome region; 维甲酸诱导蛋白1; 背景信息: 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. 标签:His-tag |
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