DSG1
Domain
Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain.
Function
Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.
Involvement in disease
Palmoplantar keratoderma 1, striate, focal, or diffuse
PPKS1
A dermatological disorder characterized by thickening of the skin on the palms and soles, and longitudinal hyperkeratotic lesions on the palms, running the length of each finger.
None
The disease is caused by variants affecting the gene represented in this entry.
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE
EPKHE
A syndrome characterized by severe dermatitis, multiple allergies and metabolic wasting. Clinical features include erythroderma, yellowish papules and plaques arranged at the periphery of the palms, along the fingers and over weight-bearing areas of the feet, skin erosions and scaling, and hypotrichosis. Additionally, patients manifest severe food allergies, elevated immunoglobulin E (IgE) levels and recurrent infections with marked metabolic wasting.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Epidermis, tongue, tonsil and esophagus.
Cellular localization
- Cell membrane
- Single-pass type I membrane protein
- Cell junction
- Desmosome
- Cytoplasm
- Nucleus
Alternative names
CDHF4, DSG1, Desmoglein-1, Cadherin family member 4, Desmosomal glycoprotein 1, Pemphigus foliaceus antigen, DG1, DGI