Fragile X syndrome is the most frequent form of inherited mental retardation and is the result of transcriptional silencing of the FMR1 (fragile X mental retardation) gene on the X chromosome. The FMR1 gene contains a distinct CpG dinucleotide repeat located in the 5’-untranslated region of the gene which, in fragile X syndrome, is substantially amplified and subject to extensive methylation and enhanced transcriptional silencing. CGGBP1 (CGG triplet repeat binding protein 1), also known as CGGBP or p20-CGGBP, is a 167 amino acid nuclear protein that influences FMR1 expression. Highly expressed in thymus, placenta, lymph nodes, cerebral cortex and cerebellum, CGGBP1 binds to the 5’ (CGG)n-3’ repeat in the promotor of the FMR1 gene and positively regulates expression of the FMR1 protein. Binding of CGGBP1 to the FMR1 promoter is inhibited by cytosine-specific DNA methylation of the protein binding motif, suggesting that CGGBP1 activity is silenced in FMR1-affected individuals.
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產品詳情: 產品編號:HRK-13879R 產品規格: 0.1ml/0.2ml 產品別名:20 kDa CGG binding protein; 20 kDa CGG-binding protein; CGBP1_HUMAN; CGG binding protein 1; CGG triplet repeat binding protein 1; CGG triplet repeat-binding protein 1; CGG-binding protein 1; CGGBP 1; CGGBP; Cggbp1; OTTHUMP00000213853; OTTHUMP00000213877; p20 CGG binding protein; p20 CGGBP; p20 CGGBP DNA binding protein; p20-CGGBP DNA-binding protein 產品價格:詢價(電詢或客服) 產品用途:科研實驗 貯 存: 貯存于-20℃.