catenin delta 2
The CTNND2 gene provides instructions for making a protein called delta-catenin. This protein is active in the nervous system, where it likely helps cells stick together (cell adhesion) and plays a role in cell movement. In the developing brain, it may help guide nerve cells to their proper positions as part of a process known as neuronal migration.
In mature nerve cells, delta-catenin is located in specialized outgrowths called dendrites. Dendrites branch out from the cell and receive information from nearby nerve cells. This information is relayed across synapses, which are junctions between nerve cells where cell-to-cell communication occurs. Delta-catenin appears to play a crucial role in the function of synapses.
The CTNND2 gene is located in a region of chromosome 5 that is often deleted in people with cri-du-chat syndrome. As a result of this deletion, many people with this condition are missing one copy of the CTNND2 gene in each cell. The loss of this gene may cause severe intellectual disability in some affected individuals. Researchers suspect that intellectual disability could result from a disruption of neuronal migration during the early development of the nervous system.
People with cri-du-chat syndrome who do not have a deletion of the CTNND2 gene tend to have milder intellectual disability or normal intelligence.
- catenin (cadherin-associated protein), delta 2
- neural plakophilin-related armadillo-repeat protein