靶标:
DSG2
产品别名:
CDHF5; HDGC; DSG2; desmoglein 2; desmoglein 2; desmoglein-2; cadherin family member 5; 桥粒芯糖蛋白2; 桥粒芯糖蛋白2(DSG2);
背景信息:
This gene encodes a member of the desmoglein family and cadherin cell adhesion molecule superfamily of proteins. Desmogleins are calcium-binding transmembrane glycoprotein components of desmosomes, cell-cell junctions between epithelial, myocardial, and other cell types. The encoded preproprotein is proteolytically processed to generate the mature glycoprotein. This gene is present in a gene cluster with other desmoglein gene family members on chromosome 18. Mutations in this gene have been associated with arrhythmogenic right ventricular dysplasia, familial, 10. [provided by RefSeq, Jan 2016],