Disease-gene associations mined from literature

Literature associating DSC1 and Hailey-Hailey disease

DSC1 [ENSP00000257198]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM