CDH2
CDH2 or Cadherin 2 is a protein that in humans is encoded by the CDH2 gene. It is also known as N-cadherin (neural cadherin) due to its role in neural development. CDH2 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[edit | edit source]
CDH2 is a classical 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 18 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.
Clinical significance[edit | edit source]
Mutations in this gene have been associated with Congenital heart disease and Neurodevelopmental disorders. It has also been associated with Arrhythmogenic right ventricular cardiomyopathy (ARVC).
See also[edit | edit source]
- Cadherin
- Cell adhesion
- Congenital heart disease
- Neurodevelopmental disorders
- Arrhythmogenic right ventricular cardiomyopathy
References[edit | edit source]
External links[edit | edit source]
- CDH2 at the US National Library of Medicine Medical Subject Headings (MeSH)
CDH2 Resources | |
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Contributors: Prab R. Tumpati, MD