CCND2基因突变与药物因子介绍
该基因编码的蛋白质属于高度保守的细胞周期蛋白家族，其成员在细胞周期内具有显著的蛋白质丰度周期性。细胞周期蛋白起着调节CDK激酶的作用。不同的细胞周期蛋白表现出不同的表达和降解模式，这有助于每个有丝分裂事件的时间协调。该细胞周期蛋白与CDK4或CDK6形成复合物，并作为该复合物的调节亚单位发挥作用，其活性是细胞周期G1/S转换所必需的。这种蛋白与肿瘤抑制蛋白Rb的磷酸化相互作用并参与其中。小鼠同源基因敲除研究提示该基因在卵巢颗粒和生殖细胞增殖中的重要作用。该基因在卵巢和睾丸肿瘤中高水平表达。该基因突变与巨头畸形多发性多指状脑积水综合征3（MPPH3）有关。
The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with CDK4 or CDK6 and functions as a regulatory subunit of the complex, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with and be involved in the phosphorylation of tumor suppressor protein Rb. Knockout studies of the homologous gene in mouse suggest the essential roles of this gene in ovarian granulosa and germ cell proliferation. High level expression of this gene was observed in ovarian and testicular tumors. Mutations in this gene are associated with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (MPPH3).
