Four individuals with de novo variants affecting the CCNK gene presented with a syndromic neurodevelopmental disorder characterized by developmental delay and intellectual disability, language defects, and distinctive facial dysmorphisms; three individuals also displayed extremely severe deficits in social communication, with two further showing autistic features (Fan et al., 2018). Cyclin K, the protein encoded by the CCNK gene, binds to the protein encoded by the syndromic gene CDK13 (Greifenberg et al., 2016).
Molecular Function
The protein encoded by this gene is a member of the transcription cyclin family. These cyclins may regulate transcription through their association with and activation of cyclin-dependent kinases (CDK) that phosphorylate the C-terminal domain (CTD) of the large subunit of RNA polymerase II. This gene product may play a dual role in regulating CDK and RNA polymerase II activities.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
