CDH3

CDH3 is a gene in humans that encodes a protein called cadherin 3, also known as P-cadherin. This protein is a type of cadherin, which are calcium-dependent cell adhesion proteins. They play important roles in cell-cell adhesion, ensuring that cells within tissues are bound together.

Function

The CDH3 gene provides instructions for making a protein that is part of the cadherin superfamily. This family of proteins plays a role in cell adhesion. The protein produced from the CDH3 gene is found in the cell membrane and binds cells together by interacting with the same protein on the surface of adjacent cells. This protein also plays a role in cell signaling and can influence cell movement and the activity of certain genes.

Clinical significance

Mutations in the CDH3 gene are associated with several conditions. These include hypotrichosis with juvenile macular dystrophy, a condition characterized by sparse hair and progressive vision loss; and ectodermal dysplasia, a group of conditions characterized by abnormal development of several ectodermal structures such as the skin, hair, nails, teeth, and sweat glands.

See also

• Cadherin
• Cell adhesion
• Hypotrichosis
• Ectodermal dysplasia

External links

• CDH3 at NCBI
• CDH3 at GHR

CDH3 Resources
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