CDC73是抑癌基因，编码蛋白为核parafibromin蛋白，编码蛋白是RNA聚合酶相关因子（PAF1）复合物的一个组分，其通过调控转录延伸、组蛋白甲基化和组蛋白泛素化来调节基因表达。由CDC73、CTR9、LEO1、RTF1、SKI8和PAF1组成的PAF1复合物与RNA聚合酶II亚基POLR2A结合。CDC63胚系突变与家族性甲状旁腺功能亢进症-颌骨肿瘤（HPT-JT）综合征相关，而体细胞突变则存在于甲状旁腺癌中。CDC73/PAF复合物在白血病发生过程中也很重要，其通过与MLL癌基因的相互作用并控制促白血病生成靶基因的表观遗传调控（如MEIS1和BCL2）。与CDC73相关的疾病还包括胃癌、骨癌、肠癌等。

CDC73 (also known as HRPT2) is the nuclear parafibromin protein, a component of the RNA Polymerase-associated factor (PAF1) complex which regulates transcriptional elongation, histone methylation and histone ubiquitination to modulate gene expression. The PAF1 complex, composed of CDC73, CTR9, LEO1, RTF1, SKI8, and PAF1, associates with the RNA polymerase II subunit POLR2A. CDC73 is a tumor suppressor, and germline mutations are associated with familial hyperparathyroidism-jaw tumor (HPT-JT) syndrome, while somatic mutations are found in parathyroid carcinomas. The CDC73/PAF complex is also important in leukemogenesis by interacting with the MLL oncogene and controlling epigenetic regulation of proleukemogenic target genes, such as MEIS1 and BCL2.

GeneCards OncoKB My Cancer Genome