CGGBP1


Description

The CGGBP1 (CGG triplet repeat binding protein 1) is a protein-coding gene located on chromosome 3.

CGGBP1 is a protein encoded by the CGGBP1 gene in humans. It was first discovered in 1990 and characterized in 1997. This 20 kDa protein contains a C2H2 zinc finger domain for DNA binding. Located on chromosome 3, CGGBP1 is near the centromere with four known promoters. It has evolved from hAT transposons and is present in all amniotes. CGGBP1 binds to CGG trinucleotide repeats to regulate transcription, including the inhibition of Alu elements, and translation. Essential for cell survival, it plays a role in DNA repair and telomere maintenance. Its promoters contain CGG repeats, making it self-regulatory. Notably, CGGBP1 interacts with the CGG trinucleotide repeat in the 5' UTR of the FMR1 gene, influencing its expression.

CGGBP1 binds to non-methylated CGG trinucleotide repeats within the FMR1 promoter region. This interaction suggests that CGGBP1 might play a role in regulating the expression of the FMR1 gene.

CGGBP1 is also known as CGGBP, p20-CGGBP.

Associated Diseases



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