CDH4

CDH4 is a gene that in humans encodes the protein Cadherin 4, also known as R-cadherin. This protein is a type of cadherin. Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types.

Function

Cadherin-4, also known as R-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. This gene is located in a six-cadherin cluster in a region on the long arm of chromosome 5 that is involved in loss of heterozygosity events in breast and prostate cancer. In addition, aberrant expression of this protein is observed in cervical adenocarcinomas. Mutations in this gene have been associated with congential hypotrichosis with juvenile macular dystrophy.

Clinical significance

Mutations in the CDH4 gene have been associated with congenital hypotrichosis with juvenile macular dystrophy. This is a rare disorder characterized by early hair loss and progressive degeneration of the macula in the eye, leading to vision loss.

See also

• Cadherin
• Cell adhesion
• Congenital hypotrichosis
• Juvenile macular dystrophy

References

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External links

• NCBI Gene
• GeneCards

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