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Genetics Home Reference: your guide to understanding genetic conditions
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CDH gene family

Reviewed August 2012

What are the CDH genes?

Genes in the cadherins family provide instructions for making proteins that help cells attach to each other (cell adhesion). During cell adhesion, a cadherin protein on the surface of one cell attaches to (binds) a cadherin protein on the surface of another cell. Different cell types have different cadherin proteins on their surfaces, which help cells distinguish between cells that are similar to them and cells that are different. These cell recognition and sorting processes are important during embryonic development and tissue formation. Cadherins also play roles in cell movement and cell signaling.

Cadherin proteins span the cell membrane, so that one end (the extracellular domain) of the protein projects from the outer surface of the cell and the other end (the intracellular or cytoplasmic domain) remains inside the cell. The extracellular domain contains two or more repeated sequences called cadherin repeats that bind calcium molecules, which are required for the protein's stability and function. The extracellular domains of cadherin proteins on separate cells also bind to each other for cell adhesion. The intracellular domain interacts with different cellular components, including proteins that make up the cell's structural framework (cytoskeleton), and signaling proteins. Variations in the extracellular and intracellular domains are responsible for the diversity of the cadherin proteins. Abnormalities of cadherin proteins or a loss of particular cadherins are associated with conditions that affect many body systems, including the skin, heart, ears, eyes, and nervous system. Cadherins are also associated with the spread of some types of cancer.

Which genes are included in the CDH gene family?

The HUGO Gene Nomenclature Committee (HGNC) provides a list of genes in the CDH family (http://www.genenames.org/genefamilies/CDH).

Genetics Home Reference summarizes the normal function and health implications of these members of the CDH gene family: CDH1, CDH23, DSG4, FAT4, PCDH15, and RET.

What conditions are related to genes in the CDH gene family?

Genetics Home Reference includes these conditions related to genes in the CDH gene family:

  • autosomal recessive hypotrichosis
  • breast cancer
  • Hennekam syndrome
  • hereditary diffuse gastric cancer
  • Hirschsprung disease
  • monilethrix
  • multiple endocrine neoplasia
  • nonsyndromic deafness
  • nonsyndromic paraganglioma
  • Usher syndrome

Where can I find additional information about the CDH gene family?

You may find the following resources about the CDH gene family helpful.

  • The Cadherin Resource: Molecular and Structural properties (http://calcium.uhnres.utoronto.ca/cadherin/pub_pages/general/index.htm)
  • Molecular Biology of the Cell (4th Edition, 2002): Cadherins Mediate Ca2+-dependent Cell-Cell Adhesion (http://www.ncbi.nlm.nih.gov/books/NBK26937/)
  • Molecular Cell Biology (4th Edition, 2000): Cadherin-Containing Junctions Connect Cells to One Another (http://www.ncbi.nlm.nih.gov/books/NBK21599/)

What glossary definitions help with understanding the CDH gene family?

atypical ; calcium ; cancer ; cell ; cell adhesion ; cell membrane ; cytoskeleton ; domain ; embryonic ; epithelial ; extracellular ; intracellular ; nervous system ; oncogene ; protein ; proto-oncogene ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

These sources were used to develop the Genetics Home Reference summary for the CDH gene family.

  • Angst BD, Marcozzi C, Magee AI. The cadherin superfamily: diversity in form and function. J Cell Sci. 2001 Feb;114(Pt 4):629-41. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11171368?dopt=Abstract)
  • Stemmler MP. Cadherins in development and cancer. Mol Biosyst. 2008 Aug;4(8):835-50. doi: 10.1039/b719215k. Epub 2008 May 29. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18633485?dopt=Abstract)
  • El-Amraoui A, Petit C. Cadherins as targets for genetic diseases. Cold Spring Harb Perspect Biol. 2010 Jan;2(1):a003095. doi: 10.1101/cshperspect.a003095. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20182609?dopt=Abstract)

 

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.

 
Reviewed: August 2012
Published: October 9, 2014