The gene cdkn2d encodes a cyclin-dependent kinase inhibitor protein. The cdkn2d protein functions as an inhibitor of G1 phase cyclin D- and cyclin E-dependent kinases, binding to and preventing their a...[+]

The gene cdkn2d encodes a cyclin-dependent kinase inhibitor protein. The cdkn2d protein functions as an inhibitor of G1 phase cyclin D- and cyclin E-dependent kinases, binding to and preventing their activation which controls cell cycle progression at the G1/S checkpoint. It is involved in regulating progenitor cell proliferation within the developing nervous system, including the retina, brain, and spinal cord. The protein exhibits nucleocytoplasmic shuttling but has a primary nuclear localization during interphase. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD