CCDC42B
Description
Cyclin-dependent kinase 42B (CCDC42B) is a protein that plays a crucial role in cell division and organization of the actin cytoskeleton. It belongs to the Cdc42 family of Rho GTPases, a group of proteins that regulate various cellular processes, including cell shape, migration, and growth. CCDC42B is primarily localized to the plasma membrane and is involved in the formation of cell protrusions, such as filopodia and lamellipodia, which are essential for cell movement and adhesion.
Associated Diseases
Mutations in the CCDC42B gene have been linked to several human diseases, including:
- Intellectual disability: Germline mutations in CCDC42B have been identified in individuals with developmental delay, intellectual disability, and behavioral problems.
- Schizophrenia: Genome-wide association studies have found genetic variants associated with schizophrenia that reside within or near the CCDC42B gene.
- Autism spectrum disorder: CCDC42B has been implicated in the etiology of autism spectrum disorder, with several studies reporting disruptions in CCDC42B expression or function in affected individuals.
- Alzheimer's disease: Recent research suggests that CCDC42B may play a role in the development of Alzheimer's disease by regulating the formation of amyloid plaques, which are characteristic of the disease.
Did you Know ?
Approximately 1% of individuals with intellectual disability have mutations in the CCDC42B gene, making it one of the most common genetic causes of intellectual disability.
