Review Article
Cardiomyopathy Classification: Ongoing Debate in the Genomics Era
Table 4
Genes associated with ARVD.
| Locus | Gene | Protein | Function | References |
| ARVD1 | TGFB3 | Transforming growth factor β3 | Cell signalling | [42, 43] | ARVD2 | RYR2 | Ryanodine receptor 2 | Sarcoplasmic reticulum calcium channel | [44, 45] | ARVD3 | Not known | [46] | ARVD4 | Not known | [47] | ARVD5 | LAMR1 | Extracellular matrix glycoprotein | Cell signalling, adhesion, and migration | [48, 49] | ARVD6 | PTPLA | Protein-tyrosine phosphatase-like member A | Fatty acid synthesis | [50, 51] | ARVD7 | DES; ZASP | Desmosomal protein; PDZ domain protein | Dystrophin-associated glycoprotein complex, andCytoskeletal assembly | [52, 53] | ARVD8 | DSP | Desmoplakin | Anchoring of intermediate filaments | [53, 54] | ARVD9 | PKP2 | Plakophilin 2 | Cell adhesion | [55, 56] | ARVD10 | DSG2 | Desmoglein 2 | Calcium-binding transmembrane glycoprotein | [57, 58] | ARVD11 | DSC2 | Desmocollin 2 | Calcium-dependent glycoprotein | [59, 60] |
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