Table 1.
List of genes associated with ACM. Modified from the work of Corrado et al. [39].
| Gene | Encoded Protein | Subcellular Localization | Chromosomal Locus |
|---|---|---|---|
| JUP | Junction plakoglobin | Desmosome | 17q21.2 |
| DSP | Desmoplakin | Desmosome | 6p24.3 |
| PKP2 | Plakophilin-2 | Desmosome | 12p11.21 |
| DSG2 | Desmoglein-2 | Desmosome | 18q12.1 |
| DSC2 | Desmocollin-2 | Desmosome | 18q12.1 |
| TMEM43 | Transmembrane protein 43 (luma) | Nuclear envelope | 3p25.1 |
| LMNA | Lamin A/C | Nuclear envelope | 1q22 |
| DES | Desmin | Intermediate filament | 2q35 |
| CTNNA3 | α-T-catenin | Area composita | 10q21.3 |
| PLN | Phospholamban | SERCA | 6q22.31 |
| TGFB3 | Transforming growth factor-3 | Growth factor | 14q24.3 |
| TTN | Titin | Sarcomere | 2q31.2 |
| SCN5A | Sodium voltage-gated channel α subunit 5 (NaV1.5) | Sodium channel | 3p22.2 |
| CDH2 | Cadherin C | Area composita | 18q12.1 |