The protein encoded by this gene has been identified as the autoantigen of the autoimmune skin blistering disease pemphigus foliaceus.

[6] It has been found that desmoglein-1 is the target antigen in majority of the cases linked to IgG/IgA pemphigus, which is an autoimmune IgG/IgA antibody mediated response.

[8] 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.

[11] Desmoglein-1 has been shown to interact with PKP3,[12] PKP2,[13] and PTPRT (PTPrho)[14] This article on a gene on human chromosome 18 is a stub.