Aliases for CGGBP1 Gene
External Ids for CGGBP1 Gene
Previous GeneCards Identifiers for CGGBP1 Gene
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]
GeneCards Summary for CGGBP1 Gene
CGGBP1 (CGG Triplet Repeat Binding Protein 1) is a Protein Coding gene. Diseases associated with CGGBP1 include fragile x syndrome. GO annotations related to this gene include RNA polymerase II regulatory region sequence-specific DNA binding and transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding.
UniProtKB/Swiss-Prot for CGGBP1 Gene
Binds to nonmethylated 5-d(CGG)(n)-3 trinucleotide repeats in the FMR1 promoter. May play a role in regulating FMR1 promoter.