DSC1 gene

DSC1 (desmocollin 1) is a protein-coding gene located on chromosome 18q12.1. The protein encoded by this gene (desmocollin1) is a calcium-dependent glycoprotein that belongs to the desmocollin subfamily of the cadherin superfamily. The members of the desmosome family, together with the desmogleins, are mainly found in epithelial cells, where they form the adhesive proteins of the desmosome-cell junction and are required for cell adhesion and desmosome formation .

A subtype of IgA pemphigus is characterized by the expression of autoantibodies directed against the encoded protein, desmocollin1.

The members of the desmosomal family are arranged in two clusters on chromosome 18. Alternative splicing of this gene leads to several transcript variants. At least one of these variants encodes a preprotein that is proteolytically processed to form the mature protein.

Diseases associated with DSC1 include:

subcorneal pustular dermatosis (Sneddon-Wilkinson)

IgA pemphigus.

An important paralogous gene of DSC1 is the DSC2 gene.

1. Hegazy S et al. (2016) IgA pemphigus showing IgA antibodies to desmoglein 1 and 3. Dermatol Pract Concept 6:31-33.
2. Porro AM et al. (2014) Non-classical forms of pemphigus: pemphigus herpetiformis, IgA pemphigus, paraneoplastic pemphigus and IgG/IgA pemphigus. An Bras Dermatol 89:96-106.3.
3. Wallach D (1992) Intraepidermal IgA pustulosis. J Am Acad Dermatol 27:993-1000.