DSG1

DSG1 (Desmoglein 1) is a protein that in humans is encoded by the DSG1 gene. It is a member of the desmoglein family and cadherin cell adhesion molecule superfamily of proteins. DSG1 plays a crucial role in the formation and maintenance of desmosome structures, which are critical for cell adhesion and cohesion in epithelial cells.

Function

DSG1 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 foliaceus.

Clinical significance

Mutations in the DSG1 gene are associated with the skin diseases pemphigus foliaceus and striate palmoplantar keratoderma. In pemphigus foliaceus, autoantibodies target DSG1, leading to blistering of the skin. In striate palmoplantar keratoderma, mutations in DSG1 lead to thickening of the skin on the palms and soles.

See also

• Desmoglein
• Pemphigus foliaceus
• Striate palmoplantar keratoderma

External links

• DSG1 at the National Center for Biotechnology Information

DSG1 Resources
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