Desmoglein 1/DSG1 (DSG1) Antibody – Goat Polyclonal

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. [provided by RefSeq, Feb 2015]

DSG1: Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. Defects in DSG1 are the cause of palmoplantar keratoderma striate type 1 (SPPK1); also known as keratosis palmoplantaris striata I. SPPK1 is a dermatoligical 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.

Protein type: Membrane protein, integral; Cell adhesion

Chromosomal Location of Human Ortholog: 18q12.1

Cellular Component: apical plasma membrane; cytosol; desmosome; integral to membrane; intercellular junction; internal side of plasma membrane; lateral plasma membrane; plasma membrane

Molecular Function: calcium ion binding; gamma-catenin binding; protein binding; toxin binding

Biological Process: calcium-dependent cell-cell adhesion; cell-cell adhesion; homophilic cell adhesion; intercellular junction assembly; maternal process involved in pregnancy; protein stabilization; response to progesterone stimulus

Disease: Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-ige; Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse