DSG2

Description 
desmoglein 2

 

DSG2 (NM_001943.2) encodes the protein desmogelin 2, a calcium-binding transmembrane glycoprotein (cadherin) component of desmosomes expressed in cardiac myocytes and in other vertebrate epithelial cells.  This protein is located at cellular junctions and is involved with the interaction of plaque proteins and intermediate microfilaments with regards to cell-cell adhesion.  This gene is located at 18q12.1 and is composed of 15 exons.  Mutations in DSG2 have been associated with arrhythmogenic right ventricular dysplasia (ARVD) (Pilichou, K et alCirc. 2006;113:1171-1179; Fressart, V et alEuropace. 2010;12:861-868). 

Aliases 
HDGC; CDHF5; ARVC10; ARVD10; CMD1BB
Chromosomal Locations 
18q12.1