Summary
Performance
Immunogen
Application
Background
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.,
Research Area
