Gene Symbol | DSG2 |
Entrez Gene ID | 1829 |
Full Name | desmoglein 2 |
Synonyms | CDHF5,HDGC |
General protein information |
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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) |