Aliases for CGGBP1 Gene
External Ids for CGGBP1 Gene
Previous GeneCards Identifiers for CGGBP1 Gene
This gene encodes a CGG repeat-binding protein that primarily localizes to the nucleus. CGG trinucleotide repeats are implicated in many disorders as they often act as transcription- and translation-regulatory elements, can produce hairpin structures which cause DNA replication errors, and form regions prone to chromosomal breakage. CGG repeats are also targets for CpG methylation. In addition to its ability to bind CGG repeats and regulate transcription, this gene is believed to play a role in DNA damage repair and telomere protection. In vitro studies indicate this protein does not bind to methylated CpG sequences. [provided by RefSeq, Jul 2017]
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.