Aliases for CDKN1C Gene
External Ids for CDKN1C Gene
Previous HGNC Symbols for CDKN1C Gene
Previous GeneCards Identifiers for CDKN1C Gene
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]
GeneCards Summary for CDKN1C Gene
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.
UniProtKB/Swiss-Prot for CDKN1C Gene
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.