CCDC22

CCDC22 is a gene that in humans is encoded by the CCDC22 protein. This gene is located on the X chromosome and has been associated with a variety of medical conditions, including X-linked intellectual disability and Ritscher-Schinzel syndrome.

Function

The CCDC22 gene provides instructions for making a protein that is involved in endosomal trafficking, which is the process of moving proteins and other molecules within cells. This protein is particularly important in nerve cells (neurons) in the brain.

Clinical significance

Mutations in the CCDC22 gene have been associated with a form of X-linked intellectual disability. This condition is characterized by significantly below-average general intellectual function with impairment in adaptive behavior. In addition, some males with CCDC22 mutations have features of Ritscher-Schinzel syndrome, which is characterized by heart defects, severe intellectual disability, and distinctive facial features.

Research

Research into the CCDC22 gene and its associated conditions is ongoing. Current research is focused on understanding the role of the CCDC22 protein in endosomal trafficking and how mutations in this gene lead to intellectual disability and other symptoms.

See also

• X-linked intellectual disability
• Ritscher-Schinzel syndrome
• Endosomal trafficking

External links

• CCDC22 at the National Center for Biotechnology Information