CTCF是抑癌基因，编码一种基因转录的通用调节因子，其11个高保守的锌指（ZF）结构域的以不同组合与DNA相结合。CTCF可以分别募集组蛋白乙酰转移酶（HAT）或组蛋白去乙酰化酶（HDAC）以及其他辅因子，并分别激活或抑制转录。c-MYC癌基因是一种众所周知的CTCF靶标，在此环境中CTCF充当转录阻遏物。CTCF充当绝缘体在高度有序的染色质结构组织和远程基因相互作用中起作用，通常从启动子中分离增强子，最终导致抑制基因转录。虽然CTCF的完全丧失导致胚胎致死，但CTCF单倍体已被证明可改变甲基化模式，使小鼠易患一系列癌症并且与缩短总体寿命。 CTCF突变通常表现为截短型突变，主要在于子宫内膜（15％），消化道（结肠和胃，约5％）和乳房肿瘤中。此外，CTCF丢失和过表达都会影响表达谱的全局。

The CTCF gene encodes a versatile regulator of gene transcription that binds DNA with different combinations of its eleven highly conserved zinc finger (ZF) domains. CTCF can recruit histone acetyltransferases (HATs) or histone deacetylases (HDACs), along with other cofactors, and activate or repress transcription, respectively. c-MYC oncogene is a well known CTCF target, which acts in this context as a transcriptional repressor. CTCF also acts as an insulator, playing a role in high order chromatin structural organization and long-range genomic interactions , typically isolating enhancers from promoters which ultimately results in inhibition of gene transcription . Insulation is achieved by CTCF-mediated modification of epigenetic marks, such as H3K27me3 removal. CTCF binding prevents CpG methylation and vice versa. While complete loss of CTCF is embryonic lethal, CTCF haploinsufficiency has been demonstrated to alter global methylation patterns, predispose mice to a range of cancers and is associated with shortened overall lifespan. Mutations in the CTCF gene usually result in a truncated protein, and they are mainly found in carcinomas of the endometrium (15%), digestive tract (colon and stomach, around 5%) and breast. In addition, both CTCF loss and overexpression lead to global effects in expression profiles.

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