Disease:Defects in CDKN1C are a cause of Beckwith-Wiedemann syndrome (BWS) [MIM:130650]. BWS is a genetically heterogeneous disorder characterized by anterior abdominal wall defects including exomphalos (omphalocele) , pre- and postnatal overgrowth , and macroglossia. Additional less frequent complications include specific developmental defects and a predisposition to embryonal tumors. ,Disease:Defects in CDKN1C are involved in tumor formation. ,Function:Potent tight-binding inhibitor of several G1 cyclin/CDK complexes (cyclin E-CDK2 , cyclin D2-CDK4 , and cyclin A-CDK2) and , to lesser extent , of the mitotic cyclin B-CDC2. Negative regulator of cell proliferation. May play a role in maintenance of the non-proliferative state throughout life. ,similarity:Belongs to the CDI family. ,tissue specificity:Expressed in the heart , brain , lung , skeletal muscle , kidney , pancreas and testis. High levels are seen in the placenta while low levels are seen in the liver. ,
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