DYRK4
Dyrk4: A Kinase with Diverse Roles in Cellular Functions
Description
Dual-specificity tyrosine-phosphorylation-regulated kinase 4 (Dyrk4) is a serine/threonine kinase that plays crucial roles in various cellular processes. It belongs to the CMGC (Cyclin-dependent kinases, Mitogen-activated protein kinases, Glycogen synthase kinases, and CDK-like kinases) group of kinases. Dyrk4 is highly expressed in the brain and is involved in regulating neuronal development, synaptic plasticity, and memory formation.
Associated Diseases
Mutations in the Dyrk4 gene have been linked to several neurological and developmental disorders, including:
- Down Syndrome: Duplication or overexpression of the Dyrk4 gene is commonly observed in individuals with Down syndrome, contributing to cognitive impairments and developmental delays.
- Intellectual Disability: Mutations in Dyrk4 have been identified in individuals with intellectual disability, developmental delay, and autism spectrum disorder.
- Schizophrenia: Dyrk4 has been implicated in the pathogenesis of schizophrenia, with studies showing altered expression and activity levels in patients.
- Parkinson's Disease: Impaired Dyrk4 function has been associated with neurodegeneration in Parkinson's disease, potentially contributing to motor and cognitive symptoms.
Did you Know ?
Approximately 1 in 100,000 individuals is estimated to have a mutation in the Dyrk4 gene, making it a relatively rare but significant contributor to neurodevelopmental disorders.
