DefinitionThis section has been translated automatically.
The DSC2 gene (DSC2 stands for: Desmocollin 2) is a protein-coding gene localized on chromsome 18q12.1.
General informationThis section has been translated automatically.
The DSC2 gene codes for a member of the desmocollin protein subfamily. Desmocollins, together with desmogleins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that resist shear forces and are present in high concentrations in cells exposed to mechanical stress. The DSC2 gene is located in a cluster with other members of the desmocollin family (e.g. DSC1 gene) on chromosome 18. Alternative splicing leads to several transcript variants.
The encoded protein desmocollin 2 is a component of the intercellular desmosome junctions. It is involved in the interaction of plaque proteins and intermediate filaments that mediate cell-cell adhesion and may contribute to epidermal cell positioning (stratification) by mediating differential adhesion.
Clinical pictureThis section has been translated automatically.
Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia-11 (Arrhythmogenic Right Ventricular Dysplasia 11 with Mild Palmoplantar Keratoderma and Woolly Hair -OMIM: 610476
