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Rabbit Anti-CGGBP1 antibody
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.
Function:
Binds to nonmethylated 5'-d(CGG)(n)-3' trinucleotide repeats in the FMR1 promoter. May play a role in regulating FMR1 promoter.
Subcellular Location:
Nucleus.
Tissue Specificity:
Ubiquitous. Highly expressed in placenta, thymus, lymph nodes, cerebellum and cerebral cortex. Low expression in other regions of the brain.
Post-translational modifications:
Phosphorylated upon DNA damage, probably by ATM or ATR.
SWISS:
Q9UFW8
Gene ID:
8545
Database links:
Entrez Gene: 8545 Human
Omim: 603363 Human
SwissProt: Q9UFW8 Human
Unigene: 444818 Human
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