Recombinant Human Desmoglein-1 (DSG1), Truncated

Uniprot Id

Q02413

Target Species

Human

Target Name

DSG1

Target Full Name

Desmoglein-1

Target Function

Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.

Target Involvement

Palmoplantar keratoderma 1, striate, focal, or diffuse (PPKS1); Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE (EPKHE)

Target Subcellular Location

Cell membrane; Single-pass type I membrane protein. Cell junction, desmosome.

Target Tissue Specificity

Epidermis, tongue, tonsil and esophagus.

Target Research Area

Signal Transduction

Target Synonyms

Cadherin family member 4;Desmosomal glycoprotein 1 (DG1; DGI);Pemphigus foliaceus antigen

Target Background

This gene encodes a member of the desmoglein protein subfamily. Desmogleins, along with desmocollins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmoglein family members on chromosome 18. The encoded protein has been identified as a target of auto-antibodies in the autoimmune skin blistering disease pemphigus foliaceus. Disruption of this gene has also been associated with the skin diseases palmoplantar keratoderma and erythroderma.