DSG2
DSG2 or Desmoglein-2 is a protein that in humans is encoded by the DSG2 gene. It is a member of the desmoglein family and cadherin cell adhesion molecule superfamily of proteins. DSG2 is a component of desmosome cell-cell junctions and is involved in the process of cell adhesion.
Function[edit | edit source]
Desmoglein-2 is a calcium-binding transmembrane glycoprotein component of desmosomes in vertebrate epithelial cells. Currently, three desmoglein subfamily members have been identified and all are members of the cadherin cell adhesion molecule superfamily. These desmoglein gene family members are located in a cluster on chromosome 18. The protein encoded by this gene has been identified as the autoantigen of the autoimmune skin blistering disease pemphigus vulgaris.
Clinical significance[edit | edit source]
Mutations in the DSG2 gene are associated with arrhythmogenic right ventricular dysplasia, a heart muscle disorder. In addition, the DSG2 gene has been linked to other diseases such as pemphigus vulgaris, an autoimmune skin blistering disease.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
- DSG2 at the US National Library of Medicine Medical Subject Headings (MeSH)
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Contributors: Prab R. Tumpati, MD
