CDH5
CDH5 is a gene that in humans encodes the VE-cadherin protein, a type of cadherin. It is located on chromosome 16 at position 13.3. VE-cadherin is a classic cadherin from the cadherin superfamily. The encoded protein is a calcium-dependent cell-cell adhesion glycoprotein composed of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. The protein plays a role in endothelial cell biology through control of the cohesion and organization of the intercellular junctions. An alternative splice variant has been described but its full length sequence has not been determined.
Function[edit | edit source]
VE-cadherin, the protein encoded by the CDH5 gene, is a major component of endothelial cell intercellular junctions. It is a classic cadherin, and like other cadherins, it functions in cell-cell adhesion. VE-cadherin is critical for the organization and cohesion of intercellular junctions in endothelial cells, which line the inside of blood vessels and the heart.
Clinical significance[edit | edit source]
Mutations in the CDH5 gene have been associated with several diseases. For example, CDH5 mutations have been found in patients with cerebral small vessel disease, a condition that affects the small blood vessels in the brain. Additionally, changes in CDH5 expression have been observed in various types of cancer, including breast cancer and colorectal cancer.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD