Desmosomes are
cell-cell junctions between
epithelial,
myocardial and certain other cell types. Desmoglein-1 is a calcium-binding
transmembrane glycoprotein component of
desmosomes in
vertebrate epithelial cells. Currently, four 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. Desmoglein-1 is also a target of
Staphylococcus exotoxins (
exfoliatins) A and B which contribute to the
pathoaetiology of
staphylococcal scalded skin syndrome (SSSS). Deficiency of the desmoglein-1 protein has been found to be associated with increased expression of multiple genes encoding
allergy-related
cytokines. Desmoglein-1 is
haploinsufficient and a mutation in the gene can cause the
autosomal dominant mutation
striate palmoplantar keratoderma. In 2013, == Interactions ==