Desmoglein 1 (DSG1) ELISA Kit for Human

Desmosomes are cell-cell junctions between epithelial, myocardial and certain other cell types. Desmoglein 1 is a calcium-binding transmembrane glycoprotein component of desmosomes in vertebrate epithelial cells. Currently, three desmoglein subfamily members have been identified and all are members of the cadherin cell adhesion molecule superfamily. These desmoglein gene family members are located in a cluster on chromosome 18. The protein encoded by this gene has been identified as the autoantigen of the autoimmune skin blistering disease pemphigus foliaceus. [provided by RefSeq, Jul 2008]

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

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

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

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