CDH1 (gene)

CDH1 is a gene that provides instructions for making a protein called E-cadherin. E-cadherin is part of a family of proteins called cadherins, which are responsible for calcium-dependent cell-to-cell adhesion in tissues. This protein is found in the outer layer of cells, where it binds to similar proteins in neighboring cells. This binding process is crucial for the formation and maintenance of tissues.

Function

The CDH1 gene is located on the long (q) arm of chromosome 16 at position 22.1. The protein produced by this gene is part of the cadherin superfamily. Cadherins mediate calcium-dependent cell adhesion and are critical for the establishment and maintenance of tissue architecture. The CDH1 gene product is a classical cadherin and is a single-pass type-1 membrane protein that interacts with catenin (CTNNA1), CTNNB1 and CTNND1.

Clinical significance

Mutations in the CDH1 gene are associated with hereditary diffuse gastric cancer (HDGC), and invasive lobular breast cancer. Individuals with mutations in this gene have an increased risk of developing diffuse gastric cancer and lobular breast cancer.

See also

• Cadherin
• Hereditary diffuse gastric cancer
• Invasive lobular carcinoma