CDKN1C

CDKN1C (Cyclin Dependent Kinase Inhibitor 1C) is a Protein Coding gene. Diseases associated with CDKN1C include Beckwith-Wiedemann Syndrome and Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies. Among its related pathways are Primary Focal Segmental Glomerulosclerosis FSGS and DNA Damage. Gene Ontology (GO) annotations related to this gene include cyclin-dependent protein serine/threonine kinase inhibitor activity. An important paralog of this gene is CDKN1B.

Cyclin Dependent Kinase Inhibitor 1C

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.

Cell cycle arrest Source: InterPro
Negative regulation of cyclin-dependent protein kinase activity Source: CAFA
Negative regulation of cyclin-dependent protein serine/threonine kinase activity Source: GO_Central
Negative regulation of epithelial cell proliferation Source: BHF-UCL
Negative regulation of kinase activity Source: UniProtKB
Negative regulation of mitotic cell cycle Source: GO_Central
Negative regulation of phosphorylation Source: UniProtKB
Negative regulation of transcription, DNA-templated Source: UniProtKB
Positive regulation of transcription, DNA-templated Source: UniProtKB
Positive regulation of transforming growth factor beta receptor signaling pathway Source: BHF-UCL

Nucleus

Beckwith-Wiedemann syndrome (BWS): A 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.
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE): A rare condition characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies. Patients with this condition may present shortly after birth with severe adrenal insufficiency, which can be life-threatening if not recognized early and commenced on steroid replacement therapy. Other reported features in this condition include, hypercalciuria and/or hypercalcemia, craniosynostosis, cleft palate, and scoliosis.