Aliases: CDKN4, KIP1, MEN1B, MEN4, P27KIP1
Chromosome No: 12
Chromosome Band: 12p13.1
Genetic Category: Multigenic CNV/rare single gene variant
ASD Reports: 1
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 8
Evidence score: 2
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Relevance to Autism
A male proband presenting with overgrowth, autism, and severe developmental delay was found to carry variants affecting both copies of the CDKN1B gene that likely resulted in CDKN1B deficiency: a maternally-inherited multigenic deletion removing the entire CDKN1B gene, and a de novo CDKN1B promoter variant that resulted in decreased protein translation (Grey et al., 2013).
Molecular Function
This gene encodes a cyclin-dependent kinase inhibitor, which shares a limited similarity with CDK inhibitor CDKN1A/p21. The encoded protein binds to and prevents the activation of cyclin E-CDK2 or cyclin D-CDK4 complexes, and thus controls the cell cycle progression at G1. The degradation of this protein, which is triggered by its CDK dependent phosphorylation and subsequent ubiquitination by SCF complexes, is required for the cellular transition from quiescence to the proliferative state.
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