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CDH1
CDH1 Full Name
cadherin 1, type 1, E-cadherin (epithelial)
CDH1 Introduction
Cadherin 1 (CDH1), encoded by the CDH1 gene, is a calcium-dependent transmembrane glycoprotein that belongs to the classical cadherin family—a key group of cell adhesion molecules (CAMs) essential for maintaining tissue integrity and architecture. Commonly known as E-cadherin (epithelial cadherin), it is the most well-characterized member of the classical cadherin family and is primarily expressed in epithelial tissues, including the epithelium of the gastrointestinal tract, breast, skin, and lung. In humans, the CDH1 gene is located on chromosome 16q22.1, spanning approximately 100 kb of genomic DNA, and its expression is tightly regulated during embryonic development and tissue homeostasis. As a foundational mediator of cell-cell adhesion, CDH1 plays pivotal roles in epithelial morphogenesis, cell polarity, and the suppression of abnormal cell migration and invasion.
Figure 1. Strcuture of CDH1.
Core Functional Mechanisms
The primary function of CDH1 is to mediate calcium-dependent homophilic cell-cell adhesion, which is critical for forming and maintaining the integrity of epithelial monolayers. By binding to CDH1 molecules on neighboring cells via its EC1 domain, CDH1 establishes tight cell-cell junctions (adherens junctions), preventing the dissociation of epithelial cells and limiting their migration. Beyond adhesion, CDH1 participates in intracellular signaling pathways that regulate cell proliferation, differentiation, apoptosis, and polarity. Through its interaction with β-catenin, CDH1 sequesters β-catenin at the cell membrane, inhibiting its nuclear translocation and subsequent activation of Wnt signaling— a pathway closely linked to cell proliferation and tumorigenesis. Additionally, CDH1 modulates the activity of Rho GTPases, which regulate cytoskeletal dynamics, and contributes to epithelial-mesenchymal transition (EMT) by maintaining epithelial cell phenotype.
Association with Human Diseases
Dysregulation of CDH1 expression or function is strongly associated with a wide range of human diseases, most notably cancer, as well as hereditary disorders and autoimmune conditions. In cancer, CDH1 is frequently downregulated or mutated, leading to the loss of cell-cell adhesion, increased cell migration and invasion, and the induction of EMT—key hallmarks of tumor metastasis. Mutations in the CDH1 gene are causally linked to hereditary diffuse gastric cancer (HDGC), an autosomal dominant disorder characterized by an increased risk of diffuse gastric cancer and lobular breast cancer. Reduced CDH1 expression is also observed in other cancers, including colorectal cancer, ovarian cancer, and non-small cell lung cancer, and is often associated with poor prognosis. Furthermore, CDH1 dysfunction has been implicated in autoimmune diseases such as pemphigus vulgaris and inflammatory bowel disease, as well as developmental disorders affecting tissue morphogenesis.
Alternate Names for CDH1
CDH1; cadherin 1, type 1, E-cadherin (epithelial); UVO; CDHE; ECAD; LCAM; Arc-1; CD324; cadherin-1; CAM 120/80; E-Cadherin; uvomorulin; cell-CAM 120/80; epithelial cadherin; cadherin 1, E-cadherin (epithelial); calcium-dependent adhesion protein, epithelial;
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