Desmoglein-2 is a protein that in humans is encoded by the DSG2 gene. These desmoglein gene family members are located in a cluster on chromosome 18. This second family member is expressed in colon, colon carcinoma, and other simple and stratified epithelial-derived cell lines. Mutations in DSG2 display a high degree of penetrance. Disease expression was of variable severity with LV involvement a prominent feature. The low prevalence of classical ECG changes highlights the need to expand current diagnostic criteria to take account of LV disease, childhood disease expression, and incomplete penetrance.
應(yīng)用類型
FC,ICC,IF,IHC,WB
免疫原
A synthetic peptide corresponding to a sequence at the C-terminus of human Desmoglein 2(1104-1118aa STRVTKHSTVQHSYS), different from the related mouse and rat sequences by one amino acid.