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TGFB3 - transforming growth factor beta 3
- Synonym(s) : prepro-transforming growth factor beta-3
- Previous symbols and names : ARVD, ARVD1, arrhythmogenic right ventricular dysplasia 1, transforming growth factor, beta 3
- Type : gene with protein product
- Chromosomal location : 14q24.3
- OMIM: 190230
- HGNC: 11769
- UniProtKB: P10600
- Genatlas: TGFB3
- GenCC: TGFB3
- Ensembl: ENSG00000119699
- IUPHAR-DB: -
- Reactome: P10600
- LOVD: TGFB3
Diseases list
- Disease-causing germline mutation(s) in Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
ORPHA:293899 - Disease-causing germline mutation(s) in Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
ORPHA:293888 - Disease-causing germline mutation(s) in Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
ORPHA:293910 - Disease-causing germline mutation(s) (loss of function) in Familial thoracic aortic aneurysm and aortic dissection
ORPHA:91387

Additional information
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