菜单 基因医生

该基因带有印记，具有母体等位基因的优先表达。编码蛋白是一种紧密结合的、强抑制多种g1周期蛋白/cdk复合物的蛋白，是细胞增殖的负调控因子。该基因的突变与散发性癌症和beckwith-wiedemann-syndorome有关，提示该基因是一种肿瘤抑制候选基因。已经发现了三个编码两种不同亚型的转录变体。[由RefSeq提供，2010年10月]
This gene is imprinted, with preferential expression of the maternal allele. The encoded protein is a tight-binding, strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation. Mutations in this gene are implicated in sporadic cancers and Beckwith-Wiedemann syndorome, suggesting that this gene is a tumor suppressor candidate. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]