|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The official name of this gene is “catenin (cadherin-associated protein), delta 2.”
CTNND2 is the gene's official symbol. The CTNND2 gene is also known by other names, listed below.
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.
Cytogenetic Location: 5p15.2
Molecular Location on chromosome 5: base pairs 10,971,839 to 11,904,042
The CTNND2 gene is located on the short (p) arm of chromosome 5 at position 15.2.
More precisely, the CTNND2 gene is located from base pair 10,971,839 to base pair 11,904,042 on chromosome 5.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about CTNND2 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
cell ; cell adhesion ; chromosome ; deletion ; disability ; gene ; nervous system ; protein ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.