The DSC2 gene (DSC2 stands for: Desmocollin 2) is a protein-coding gene localized on chromsome 18q12.1.
DSC2 gene
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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.
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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