CDK13-related disorder, also known as congenital heart defects, dysmorphic facial features and intellectual developmental disorder (CHDFIDD), is a very rare autosomal dominant genetic condition characterised by congenital heart defects, intellectual disability and …

2019年1月31日 · CDK13-related disorder, reported in 43 individuals to date, is characterized in all individuals by developmental delay / intellectual disability (DD/ID); nearly all individuals older than age one year display impaired verbal language skills (either absent or restricted speech).

Cyclin dependent kinase 13 is an enzyme that in humans is encoded by the CDK13 gene. [5][6] The protein encoded by this gene is a member of the cyclin -dependent serine/ threonine protein kinase family. Members of this family are well known for their essential roles as master switches in cell cycle control.

What is CDK13-related disorder? CDK13-related disorder is a rare genetic condition associated with developmental delay, intellectual disability, heart conditions, and speech and language disorders.

2024年12月24日 · CDK13 (Cyclin Dependent Kinase 13) is a Protein Coding gene. Diseases associated with CDK13 include Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder and Autism Spectrum Disorder .

2023年3月7日 · We here identify key translation machinery components, 4E-BP1 and eIF4B, as novel CDK13 substrates. CDK13 directly phosphorylates 4E-BP1 at Thr46 and eIF4B at Ser422; genetically or...

2024年11月18日 · This includes the identification of variants in cyclin-dependent kinase 13 (CDK13), in individuals with syndromic CHD. CDK13 encodes a serine/threonine protein kinase. The cyclin partner of CDK13 is cyclin K; this complex is thought to be important in transcription and RNA processing.