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arrhythmogenic right ventricular dysplasia 12
Summary
- Synonym
-
- ARVC12
- ARVD12
- arrhythmogenic right ventricular cardiomyopathy 12
- familial arrhythmogenic right ventricular dysplasia 12
- Definition
- An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding junction plakoglobin (JUP) on chromosome 17q21.
- Super Class
- arrhythmogenic right ventricular cardiomyopathy autosomal dominant disease
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P14923 | Junction plakoglobin |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q02257 | Junction plakoglobin |
