首页>
外国专利>
IDENTIFICATION OF AN ADVANCED SLEEP PHASE SYNDROME GENE IN HUMANS
IDENTIFICATION OF AN ADVANCED SLEEP PHASE SYNDROME GENE IN HUMANS
展开▼
机译:人体高级睡眠阶段综合症基因的鉴定
展开▼
页面导航
摘要
著录项
相似文献
摘要
The present invention includes the disclosure of the hPER2 gene and a mutant of the hPER2 gene that participates in the human circadian biological clock. The product of the mutant hPER2 gene found in some familial advanced sleep phase syndrome patients is hypophosphorylated by casein kinase epsilon due to the serine-to-glycine mutation caused by the point mutation of the genomic sequence. Specifically, this serine-to-glycine mutation affects the casein kinase epsilon binding region of the hPER2 protein, thus blocking the phosphorylation cascade ordinarily caused by the binding of casein kinase epsilon to hPER2.
展开▼