Desmoglein-1

Desmoglein-1 (DSG1) 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.

Function[edit | edit source]

Desmoglein-1 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. This protein has been identified as the autoantigen of the autoimmune skin blistering disease pemphigus foliaceus.

Clinical significance[edit | edit source]

Mutations in the DSG1 gene are associated with the skin diseases pemphigus, erythroderma, and palmoplantar keratoderma, striate type 1. In pemphigus, the immune system produces antibodies against desmoglein-1, leading to a loss of adhesion between keratinocytes, the predominant cell type in the epidermis. This results in the formation of blisters in the skin and mucous membranes.

Structure[edit | edit source]

Desmoglein-1 is a single-pass type I membrane protein. It contains five extracellular cadherin domains, a transmembrane region and a cytoplasmic tail involved in cell signaling. The protein interacts with plakoglobin and plakophilin, which are other constituents of desmosomes.