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Cyclin-dependent kinase inhibitor 1C is a maternally expressed, imprinted gene encoding a tight-binding inhibitor of several cyclin/CDK complexes. It regulates cell proliferation by arresting the cell cycle in G1 phase and acts as a tumor suppressor. Loss-of-function mutations cause increased cell proliferation and tumor growth, as seen in Beckwith-Wiedemann syndrome, while gain-of-function mutations cause growth restriction as seen in IMAGe syndrome. CDKN1C is involved in growth regulation both prenatally and postnatally, and its dysregulation is implicated in cancer and rare developmental syndromes. Immunohistochemical detection of p57 can aid in diagnosis of certain gestational diseases.
Drugs or molecules that increase CDKN1C activity typically inhibit cell proliferation by promoting cell cycle arrest at G1 phase; gene therapy or small molecules that modulate imprinting or methylation of the CDKN1C locus are explored as potential mechanisms.
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