CCDC22

CCDC22 (Coiled-Coil Domain Containing 22) is a human gene that encodes a protein with the same name. CCDC22 is involved in endosomal trafficking and is a component of the WASH complex, a multiprotein complex that regulates actin polymerization at the surface of endosomes. This actin polymerization is crucial for the transport of cargo within cells.

CCDC22 is located on the X chromosome. Mutations in the CCDC22 gene have been associated with X-linked intellectual disability, characterized by cognitive impairment, speech delay, and facial dysmorphism. Other phenotypic features may include skeletal abnormalities and immune system dysfunction. The severity of the condition can vary between affected individuals.

Research suggests that CCDC22 plays a role in the regulation of osteoclast differentiation, the process by which bone-resorbing cells are formed. Loss of CCDC22 function can impact bone homeostasis. Further studies are ongoing to fully elucidate the precise functions of CCDC22 and the mechanisms by which its deficiency leads to the observed clinical features.