DSG1
Description
The DSG1 (desmoglein 1) is a protein-coding gene located on chromosome 18.
Desmoglein-1 is a protein encoded by the DSG1 gene in humans. It's expressed throughout the skin epidermis, predominantly in the superficial upper layers. Desmoglein-1 is a calcium-binding transmembrane glycoprotein component of desmosomes, which are cell-cell junctions found in epithelial, myocardial, and other cell types. It belongs to the cadherin cell adhesion molecule superfamily, with four known desmoglein subfamily members located on chromosome 18. Desmoglein-1 is the autoantigen associated with the autoimmune skin blistering disease pemphigus foliaceus, targeted by IgG/IgA antibodies in the majority of cases of pemphigus. It's also a target of Staphylococcus exotoxins A and B, contributing to the development of staphylococcal scalded skin syndrome (SSSS). Deficiency in desmoglein-1 has been linked to increased expression of genes encoding allergy-related cytokines.
DSG1 is also known as CDHF4, DG1, DSG, EPKHE, EPKHIA, PPKS1, SPPK1.
Associated Diseases
- Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige
- Striate palmoplantar keratoderma
- Keratosis palmoplantaris striata I
