Dsg1e

Dsg1e, also known as desmoglein 1e, is a protein encoded by the DSG1 gene in humans. It is a member of the desmoglein family of cadherin proteins, which are essential components of desmosomes. Desmosomes are specialized cell junctions that provide strong adhesive connections between cells, particularly in epithelial tissues. Dsg1e is predominantly expressed in the epidermis, the outermost layer of the skin, and plays a critical role in maintaining epidermal integrity and barrier function.

The desmogleins are transmembrane glycoproteins that form homophilic and heterophilic interactions with other desmogleins on adjacent cells, thereby linking the cytoskeletons of neighboring cells. Dsg1e specifically interacts with other desmogleins to form the desmosomal cadherin complex. Mutations in the DSG1 gene, and consequently in the Dsg1e protein, have been associated with several skin disorders. These include ectodermal dysplasia with skin fragility, which is characterized by abnormalities in hair, nails, teeth, and skin that is prone to blistering. Another condition linked to DSG1 mutations is autosomal dominant keratosis pilaris, a common skin condition that causes small, rough bumps on the skin. The precise mechanisms by which Dsg1e dysfunction leads to these conditions are still under investigation but involve compromised cell adhesion and structural integrity of the epidermis.