CGGBP1 - CGG triplet repeat binding protein 1 Gene

中文名称：CGG 三重重复结合蛋白 1

种属: Homo sapiens

同用名: CGGBP; p20-CGGBP

关于 CGGBP1

功能概要

该基因编码主要定位于细胞核的 CGG 重复结合蛋白。 CGG 三核苷酸重复与许多疾病有关，因为它们通常充当转录和翻译调节元件，可以产生导致 DNA 复制错误的发夹结构，并形成易于染色体断裂的区域。 CGG 重复也是 CpG 甲基化的目标。除了其结合 CGG 重复序列和调节转录的能力外，该基因被认为在 DNA 损伤修复和端粒保护中发挥作用。体外研究表明该蛋白不与甲基化的 CpG 序列结合。[RefSeq 提供，2017 年 7 月]

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]