CGGBP1 Rabbit Polyclonal Antibody

CGGBP1 influences expression of the FMR1 gene (MIM 309550), which is associated with the fragile X mental retardation syndrome (MIM 300624), by specifically interacting with the 5-prime (CGG) n-3-prime repeat in its 5-prime UTR.[supplied by OMIM, Mar 2008], developmental stage:Expressed in fetal brain and kidney. Lower expression in fetal liver and lung., function:Binds to nonmethylated 5'-d (CGG) (n) -3' trinucleotide repeats in the FMR1 promoter. May play a role in regulating FMR1 promoter., miscellaneous:Binding is severely inhibited by complete or partial cytosine-specific DNA methylation of the binding motif., PTM:Phosphorylated upon DNA damage, probably by ATM or ATR., tissue specificity:Ubiquitous. Highly expressed in placenta, thymus, lymph nodes, cerebellum and cerebral cortex. Low expression in other regions of the brain.