| Gene Symbol | DSG2 |
| Entrez Gene ID | 1829 |
| Full Name | desmoglein 2 |
| Synonyms | CDHF5,HDGC |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | 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]. |
| Disorder MIM: | |
| Disorder Html: | Arrhythmogenic right ventricular dysplasia 10, 610193 (3); Cardiomyopathy, dilated, 1BB, 612877 (3) |

User Manual