CDH3 (gene)

CDH3 is a gene that encodes for the protein P-cadherin, a type of cadherin. Cadherins are a class of type-1 transmembrane proteins that play crucial roles in cell adhesion, ensuring that cells within tissues are bound together. They are dependent on calcium (Ca2+) ions to function, hence their name.

Structure

The CDH3 gene is located on the long (q) arm of chromosome 16 at position 22.1. The gene spans approximately 27 kilobases and contains 16 exons. The encoded protein, P-cadherin, is 829 amino acids long with a predicted molecular weight of approximately 90 kDa.

Function

P-cadherin is a classical cadherin from the cadherin superfamily of integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays a role in the establishment and maintenance of epithelial cell-cell adhesion, cell polarity and tissue architecture. In addition, P-cadherin is thought to play a role in tumor suppression.

Clinical significance

Mutations in the CDH3 gene have been associated with several diseases, including hypotrichosis with juvenile macular dystrophy, ectodermal dysplasia, and congenital hypotrichosis with juvenile macular dystrophy.

See also

• Cadherin
• Chromosome 16
• Ectodermal dysplasia
• Hypotrichosis

References

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