Literature associating DSC1 and Hailey-Hailey disease
Desmosomal glycoprotein 2/3; Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms. Linked to the keratinization of epithelial tissues; Desmosomal cadherins
Synonyms: DSC1, DSC1p, hDSC1, Q08554, Q9HB00 ...