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]

基因名:CDKN1C
别名:BWS,WBS,p57,BWCR,KIP2,p57Kip2
基因ID:1028
Chromosome:
(GRCh37)
11 Start: 2904448 End: 2907063 Strand: 
信号通路:  
CDKN1C 基因突变与药物

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