Gene: CGGBP1

Alternate names for this Gene: CGGBP|p20-CGGBP

Gene Summary: 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.

Gene is located in Chromosome: 3

Location in Chromosome : 3p11.1

Description of this Gene: CGG triplet repeat binding protein 1

Type of Gene: protein-coding

rs9861443 in CGGBP1 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.