CXXC4 - CXXC finger protein 4 Gene

中文名称：CXXC 指蛋白 4

种属: Homo sapiens

同用名: IDAX

关于 CXXC4

功能概要

该基因编码一种含有 CXXC 型锌指结构域的蛋白质，该蛋白质作为经典无翼/整合信号通路的拮抗剂发挥作用。编码的蛋白质通过与 Dishevelled 的突触后密度蛋白/果蝇圆盘大肿瘤抑制因子/zonula occludens-1 蛋白结构域相互作用来负向调节无翼/整合信号，Dishevelled 是稳定转录共激活因子 β-连环蛋白所需的脚手架蛋白。此外，该蛋白的 CXXC 结构域已被证明可结合未甲基化的 CpG 二核苷酸，定位于启动子和 CpG 岛，并与甲基胞嘧啶双加氧酶 10-11-易位 2 (一种铁和 α-酮戊二酸依赖性双加氧酶) 的催化结构域相互作用改变 DNA 的甲基化状态。在人类中，该基因的突变与恶性肾细胞癌的发展有关。可变剪接导致多个转录本变体。[RefSeq 提供，2015 年 9 月]

This gene encodes a CXXC-type zinc finger domain-containing protein that functions as an antagonist of the canonical wingless/integrated signaling pathway. The encoded protein negatively regulates wingless/integrated signaling through interaction with the post synaptic density protein/ Drosophila disc large tumor suppressor/ zonula occludens-1 protein domain of Dishevelled, a scaffolding protein required for the stabilization of the transcriptional co-activator beta-catenin. In addition, the CXXC domain of this protein has been shown to bind unmethylated CpG dinucleotides, localize to promoters and CpG islands, and interact with the catalytic domain of methylcytosine dioxygenase ten-eleven-translocation 2, an iron and alpha-ketoglutarate-dependent dioxygenase that modifies the methylation status of DNA. In humans, a mutation in this gene has been associated with development of malignant renal cell carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]