Aliases for DSG1 Gene
External Ids for DSG1 Gene
Previous HGNC Symbols for DSG1 Gene
Previous GeneCards Identifiers for DSG1 Gene
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]
GeneCards Summary for DSG1 Gene
DSG1 (Desmoglein 1) is a Protein Coding gene. Diseases associated with DSG1 include Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse and Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Apoptotic cleavage of cellular proteins. Gene Ontology (GO) annotations related to this gene include calcium ion binding and toxic substance binding. An important paralog of this gene is DSG4.
UniProtKB/Swiss-Prot Summary for DSG1 Gene
Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.